Listings

Posted 6 months ago by Wales Gene Park

Vestibular schwannomas (VS) arise from the vestibulocochlear (hearing and balance) nerve, located at the base of the brain. Although benign, VS can enlarge over time, resulting in debilitating symptoms; therefore, surgical removal is frequently offered. One significant risk of surgery is inadvertent injury to the facial nerve, which lies adjacent to the vestibulocochlear nerve. Currently, the nerve's course is only revealed during surgical dissection and injury can cause permanent facial weakness. It would therefore be useful for the surgeon to know the course of the nerve before operating. To this end, a new MRI technique known as probabilistic diffusion tensor tractography (DTT) has shown potential in revealing the course of the facial nerve pre-operatively. However, its clinical reliability remains uncertain. This study aims to investigate the reliability of DTT in identifying the course of the facial nerve preoperatively in patients undergoing surgery for VS. The future benefit would be to...

 Acoustic Neuroma

Posted 2 weeks ago by Wales Gene Park

Brief Summary The DCM SUPPORT study is a single centre, single arm study evaluating the change in left ventricular ejection fraction with the combines use of bone marrow derived stem cells and G-CSF with a percutaneous circulatory assistance for the treatment of dilated cardiomyopathy. Detailed Description The DCM SUPPORT study is a single centre, single arm, phase II pilot study. The primary endpoint will be a change in LVEF from baseline measured by a CT scan of the heart at 3 months. The secondary endpoints include change in LVEF from baseline measured by a CT scan of the heart at 12 months, in-hospital procedural related morbidity / mortality and assessment of major adverse cardiac events (MACE; death, heart attack, need for repeat heart revascularisation), change in exercise capacity and NYHA class at 3 months and 12 months respectively. The NYHA classification is a quantitative way of assessing a patient's heart...

 Familial Dilated Cardiomyopathy /  London

Posted 3 years ago by Wales Gene Park

A prospective study of Thrombotic Thrombocytopenic Purpura in the UK This is a UK based registry, involving all sites treating newly presenting Thrombotic Thrombocytopenic Purpura (TTP). From this registry, important epidemiological data will be obtained. Admission and remission samples will be collected. DNA will be collected and analysed from patients wishing to participate to determine if any link exists between mutations/polymorphisms and the risk of TTP. As part of NHS commissioning, this study will be undertaking long term follow up, to understand the impact of acute TTP on morbidity and mortality.

 Immune thrombocytopenia /  University Hospital of Wales

Posted 5 days ago by Wales Gene Park

Brief Summary The overall aim of the study is to demonstrate a clinically meaningful extension of progression free survival using maintenance pembrolizumab. The aim of the translational research is to study the immune microenvironment before and during pembrolizumab therapy. Detailed Description This study aims to investigate the effect of maintenance pembrolizumab in patients who have undergone treatment with weekly paclitaxel for platinum-resistant recurrent ovarian cancer and have either responded or have not progressed after a minimum of 4 cycles of treatment. In this study patients will receive 3 weekly pembrolizumab until progression and the investigators will monitor the immune microenvironment by tumour biopsy and blood sampling before starting pembrolizumab and again before cycle 4 of treatment. The clinical endpoint will be to demonstrate a worthwhile improvement in the 6 month median PFS and to study possible predictive markers or response to pembrolizumab. This is a non-randomised phase II study, and...

 Fallopian Tube Cancer /  London

Posted 2 years ago by Wales Gene Park

Osteogenesis imperfect (OI) or brittle bone disease is an inherited condition in which the bones of the skeleton break (fracture) more easily than normal, often in response to a minor injury and sometimes for no reason at all. There is no cure for OI and no treatment has been convincingly shown to reduce the risk of breaking bones. Many doctors treat OI patients with drugs called bisphosphonates, such as zoledronic acid, which are also used in osteoporosis (gradual bone loss that leads to weakened bones), but it’s not clear if they are effective at preventing fractures in OI. Teriparatide (TPTD) is a form of parathyroid hormone, which works by activating bone building cells in the body. The aim of this study is to determine if it is possible to reduce the risk of fractures occurring in OI by using a combination of treatments which will strengthen the skeleton as compared...

 Osteogenesis imperfecta

Posted 6 months ago by Wales Gene Park

RATIONALE: Following stem cell transplantation, a major risk is graft-versus-host disease (GVHD). This occurs when donor immune cells that have been infused recognise the host's cells as 'foreign' and attack these cells. Prevention of GVHD relies upon depletion of donor immune T cells or drugs that block T cell function. However, these methods also increase the risk of life threatening infection. There is an important unmet need for better means of accelerating immune recovery following stem cell transplantation while avoiding GVHD. Pre-clinical studies have shown that infusion of donor CD62L- effector memory T cells (Tem) into the host improve immune recovery after allo-Stem Cell Transplant but do not cause GVHD. PURPOSE: This phase I dose escalation trial aims to determine the feasibility and safety of transfer of donor Tem following allogeneic stem cell transplantation.

 Aplastic Anemia /  London

Posted 4 weeks ago by Wales Gene Park

Summary TRACERx Renal: This is a translational study, which, aims to develop prognostic and predictive biomarkers for patients with renal cell carcinoma (RCC). CAPTURE Sub-study: Covid-19 antiviral response in a pan-tumour immune monitoring study

 Rare Kidney Cancers /  London

Posted 3 years ago by Wales Gene Park

TOPaZ: Treatment of Osteogenesis Imperfecta with Parathyroid hormone and Zoledronic acid  Osteogenesis imperfecta (OI) is an inherited skeletal disorder characterised by increased risk of fragility fractures. Bisphosphonates are frequently prescribed for adult patients with OI with the aim of preventing fractures but the evidence base for efficacy is poor. Recent evidence suggests that the bone anabolic agent teriparatide (TPTD) increases bone mineral density (BMD) and may have the potential to prevent fractures in OI. The purpose of the TOPaZ Trial is to investigate if a a two-year course of teriparatide (TPTD) followed by antiresorptive therapy with a single infusion of zoledronic acid (ZA) in adults with OI reduces the proportion of patients who experience a fracture as compared with standard care. Adult patients with a clinical diagnosis of OI who are willing and able to give informed consent and who do not have contraindications to the study medications will be...

 Osteogenesis imperfecta /  Llandudno General Hospital

Posted 3 years ago by Wales Gene Park

The role of routine and novel biomarkers and their correlation with clinical outcome measures in patients undergoing surgical interventions for benign and malignant disorders of the prostate and bladder.

 Penile Cancer /  Wrexham

Posted 3 weeks ago by Wales Gene Park

Brief Summary This study seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called 'Lamin'. Patients born with lamin gene mutations have apparently healthy hearts initially, they begin experiencing symptoms in their twenties or thirties, and by age 45 the majority have undergone a heart transplant, experienced a major cardiac complication, or have died. Sudden heart rhythm abnormalities are a major cause of sudden death so earlier diagnosis can save lives by enabling timely treatment or implantation of specialised pacemakers (defibrillators). In clinical practice, diagnosis of lamin heart disease currently relies on the genetic test. Very little is known about the detailed imaging features of the hearts of patients with lamin heart disease although advanced echocardiography and cardiac MRI now offer the opportunity to study the health of the heart without the need for radiation....

 Familial Dilated Cardiomyopathy /  London

Posted 3 years ago by Wales Gene Park

Huntington’s disease (HD) commonly begins in mid-life. However, research over the last 20 years has demonstrated that subtle behavioural and cognitive changes can occur 10 years or more before a formal clinical diagnosis is made, and recent studies have demonstrated the presence of changes on brain imaging 20 years prior to predicted onset of the disease in individuals who are clinically completely normal. This has prompted the question “is the brain ever normal in HD?”. Answering this question and characterising any such changes will be important for A full understanding of the genetic and cellular processes leading to the death of specific brain cells in HD Revealing new therapeutic targets Judging the stage at which various disease-modifying treatments (once available) should be used in clinical trials With the promise of disease-modifying treatments on the horizon, ranging from drugs to infusions of RNAi/ASOs (molecules to suppress the formation of the toxic mutant...

 Huntington's Disease /  Cardiff University

Posted 3 years ago by Wales Gene Park

We hope to use new gene and protein technologies currently only available in Universities, to measure combinations of the most promising molecules and microbes(biomarkers) from sputum, blood, saliva, urine, pleural fluid and any biopsy samples from people attending hospital with lung diseases and compare them with samples from people with other lung diseases and healthy controls. Testing on samples which are more easily and safely obtained than deep biopsies and then applying newer cutting edge technologies we hope we can better detect and monitor lung cancer and Chronic Obstructive Pulmonary Disease (COPD). We will also apply special ways of measuring and combinations of biomarkers rather than a single reading. The work applies high-throughput, automated so rapid and potentially more accurate and cost-effective detection “omics” technologies.

 Rare non-specific /  Prince Philip Hospital

Posted 4 weeks ago by Wales Gene Park

Brief Summary The purpose of the study is to test how well patients with advanced solid tumors respond to treatment with elimusertib (BAY1895344) in combination with pembrolizumab. In addition researchers want to find for patients the optimal dose of elimusertib in combination with pembrolizumab, how the drug is tolerated and the way the body absorbs, distributes and discharges the drug. The study medication, elimusertib, works by blocking a substance (ATR Kinase) which is produced by the body and is important for the growth of tumor cells. Pembrolizumab is an immunologic checkpoint blocker that promotes an immune response against the tumor.

 Ataxia /  London

Posted 6 months ago by Wales Gene Park

This is a multicenter, open label, non-comparator, single arm study to evaluate the efficacy and safety of ibrexafungerp (SCY-078) in patients ≥ 18 years of age with a documented fungal disease that has been intolerant or refractory (rIFI) to Standard of Care (SoC) antifungal treatment.

 Blastomycosis /  England

Posted 4 weeks ago by Wales Gene Park

Brief Summary This is a multicenter, open label, non-comparator, single arm study to evaluate the efficacy and safety of ibrexafungerp (SCY-078) in patients ≥ 18 years of age with a documented fungal disease that has been intolerant or refractory (rIFI) to Standard of Care (SoC) antifungal treatment. Detailed Description This is a multicenter, open label, non-comparator, single arm study to evaluate the efficacy and safety of ibrexafungerp in patients ≥ 18 years of age with a documented invasive and/or severe fungal disease that has been intolerant or refractory (rIFI) to Standard of Care (SoC) antifungal treatment. Patients will be treated with ibrexafungerp for up to 180 days. Treatment beyond 180 days and combination therapy with other antifungal agents may be allowed under special circumstances to be agreed upon by the Investigator and the Sponsor. Subjects must have a proven or probable fungal disease and meet all study criteria to be...

 Fungal Diseases /  Manchester

Posted 5 days ago by Wales Gene Park

Brief Summary A single centre phase II trial of peri-operative chemo-immunotherapy in operable gastro-oesophageal adenocarcinoma (GOA). This trial is designed to evaluate the safety and efficacy of administering Avelumab, an anti-PD-L1 monoclonal antibody, with cytotoxic FLOT chemotherapy for patients with operable GOA treated according to a peri-operative protocol. This trial is in 2 stages: the first stage will establish the safe and tolerated maximum administered dose (MAD) of Avelumab in combination with FLOT and the second stage will assess the efficacy of this combination therapy in achieving pathological complete response (pCR) and peri-operative safety. Detailed Description Patients will receive chemo-immunotherapy consisting of FLOT chemotherapy (Folinic acid 200mg/m2 iv infusion day 1, Oxaliplatin 85mg/m2 iv infusion day 1, Docetaxel 50mg/m2 iv day 1, Fluorouracil 2600mg/m2 over 24 hours iv) and the PD-L1 inhibiting monoclonal antibody Avelumab. The safe dose of Avelumab in combination with FLOT will be established in a safety...

 Esophageal Cancer /  London

Posted 1 month ago by Wales Gene Park

The main objective of this study is to evaluate the efficacy of SRP-4045 and SRP-4053 compared to placebo in participants with DMD with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53, respectively. This is a double-blind, placebo-controlled, multi-center study to evaluate the efficacy and safety of SRP-4045 and SRP-4053. Eligible participants with out-of-frame deletion mutations amenable to exon 45 or 53 skipping will be randomized to receive once weekly intravenous (IV) infusions of 30 milligrams/kilograms (mg/kg) SRP-4045 or 30 mg/kg SRP-4053 respectively (combined-active group) or placebo for up to 96 weeks (the placebo-controlled period of the trial). This will be followed by an open-label extension period in which all participants will receive open-label active treatment for 48 weeks (up to Week 144 of study). The study will enroll approximately 222 participants. Twice as many participants will be randomized to receive active treatment as will receive placebo (2:1...

 Duchenne Muscular Dystrophy

Posted 3 weeks ago by Wales Gene Park

Detailed Description The main objective of this study is to evaluate the efficacy of SRP-4045 and SRP-4053 compared to placebo in participants with DMD with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53, respectively. This is a double-blind, placebo-controlled, multi-center study to evaluate the efficacy and safety of SRP-4045 and SRP-4053. Eligible participants with out-of-frame deletion mutations amenable to exon 45 or 53 skipping will be randomized to receive once weekly intravenous (IV) infusions of 30 milligrams/kilograms (mg/kg) SRP-4045 or 30 mg/kg SRP-4053 respectively (combined-active group) or placebo for up to 96 weeks (the placebo-controlled period of the trial). This will be followed by an open-label extension period in which all participants will receive open-label active treatment for 48 weeks (up to Week 144 of study). The study will enroll approximately 222 participants. Twice as many participants will be randomized to receive active treatment as will receive...

 Duchenne Muscular Dystrophy /  Oxford

Posted 7 days ago by Wales Gene Park

Brief Summary Research has shown that increasing the dose of radiotherapy improves outcomes in patients with lung and head and neck cancers. This study aims to see whether this is also the case for patients with tumour of the oesophagus. This trial will compare the effects of the standard dose of radiotherapy to a higher dose whilst closely monitoring the side effects. A comparison will also be made regarding the effects of the standard drugs used in chemotherapy (cisplatin and capecitabine) with an alternative combination (carboplatin and paclitaxel) in patients that do not show a response to chemotherapy with standard drugs early on in treatment. All patients will receive 6 weeks of chemotherapy and 5 weeks of chemoradiotherapy. How the study will be conducted: Prior to the commencement of treatment each patient will have a special scan called a PET scan. Patients will receive a second PET scan two weeks...

 Esophageal Cancer /  Cardiff

Posted 6 months ago by Wales Gene Park

The purpose of this first in human study is to assess safety, tolerability, Pharmacokinetic (PK) and preliminary clinical activity and to estimate the Maximum Tolerated Doses (MTD(s))/ Recommended Phase 2 Doses (RP2D(s)) of S65487 as single agent administered intravenously (i.v.) in adult patients with refractory or relapsed Acute Myeloid Leukemia (AML), Non-Hodgkin Lymphoma (NHL), Multiple Myeloma (MM) or Chronic Lymphocytic Leukemia (CLL).

 Acute myeloid leukaemia

Posted 4 weeks ago by Wales Gene Park

Brief Summary Multi-center, International, Prospective, Non comparative, Non randomized, Open label. 5,000 patients to be enrolled approximately worldwide. The objective of this registry is to collect safety and clinical performance post market data related to the procedure and follow-up of the Sorin Group aortic valve devices in accordance with the Instructions for Use (IFU). This observational global registry is intended to collect data without requiring any deviation from the standard of care and IFU in each participating center. The participating centers shall include those patients that have provided their informed consent to participate in this registry in accordance with the local applicable regulations.   Detailed Description SURE-AVR objective is to collect post market safety and performance data collected along the procedure and the relevant follow-up with Sorin Group aortic valve devices in accordance with the IFU to further evidence the safety and efficacy in a post-approval environment. All current and...

 Aortic Valve Stenosis /  Bristol

Posted 5 months ago by Wales Gene Park

This research project aims to understand the social factors surrounding the diagnosis of conditions that are related to joint hypermobility. This includes conditions that are rarely diagnosed, including hypermobile Ehlers-Danlos syndrome, and rare diseases such as Marfan's syndrome and osteogenesis imperfecta. It explores how guidance about diagnosing hypermobility is written, who makes decisions about diagnosing hypermobility, how these decisions are made, and how this affects different people.   To understand this in-depth, a variety of research methods are used, including analysis of documents and webpages; observations of disease support groups online and in-person; and interviews with a variety of stakeholders including patients, parents, carers, medical professionals, social care professionals, and other researchers. Research participants also have the opportunity to send the researcher other items that allow them to express themselves and their experiences, such as diaries, photographs, drawings, or poetry.   The research is part of a PhD project in the social...

 Ehlers-Danlos syndrome

Posted 2 years ago by Wales Gene Park

Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E) The purpose of the study is to assess the long-term safety and efficacy of idebenone in patients with Duchenne muscular dystrophy (DMD) who completed the SIDEROS study. The study is an open-label, single-group, multi-center extension study in patients with DMD receiving glucocorticoid steroids who participated in the SIDEROS study and who meet all the inclusion criteria and none of the exclusion criteria for this extension study. The study consists of 4 study visits scheduled every 6 months (Visit 1/Baseline, Visit 2/Week 26, Visit 3/ Week 52 and Visit 4/ Week 78), and a follow-up visit 4 weeks after treatment discontinuation. Visit 8/Week 78 in SIDEROS study is also SIDEROS-E Visit 1/Baseline.

 Duchenne Muscular Dystrophy /  England

Posted 6 months ago by Wales Gene Park

This is a Phase III, multi-centre, randomized, double-blind, placebo-controlled, parallel-group study to evaluate Safety and Efficacy of Tauroursodeoxycholic (TUDCA) as add-on Treatment in Patients Affected by Amyotrophic Lateral Sclerosis (ALS).

 Skeletal /  England

Posted 6 months ago by Wales Gene Park

The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, and efficacy of ponatinib in children aged 1 to < 18 years with advanced leukemias, lymphomas, and solid tumors.

 Acute myeloid leukaemia

Posted 3 weeks ago by Wales Gene Park

Brief Summary The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, and efficacy of ponatinib in children aged 1 to < 18 years with advanced leukemias, lymphomas, and solid tumors.

 Chronic myeloid leukemia (CML) /  Sutton

Posted 7 hours ago by Wales Gene Park

Brief Summary A Phase 1/2, open label, multi-center study to evaluate the safety, efficacy and tolerability of KY1044 as single agent and in combination with anti-PD-L1 (atezolizumab) in adult patients with selected advanced malignancies, who are ineligible for or there are no available therapies known to confer a clinical benefit for their disease, or they have exhausted all such available options in each indication and therefore will be patients for whom a clinical trial is appropriate.

 Oncology /  Sutton

Posted 2 years ago by Wales Gene Park

The purpose of this study is to determine if emixustat hydrochloride reduces the rate of progression of macular atrophy compared to placebo in subjects with Stargardt disease.

 Stargardt Disease 1 /  England

Posted 2 weeks ago by Wales Gene Park

Brief Summary Phase 1/2 study to determine safety, tolerability, pharmacokinetics, and anti-leukemic activity of Vodobatinib (K0706) in treatment-refractory/intolerant CML Detailed Description Part A ( for Healthy volunteers) of the study is completed Part B dose-escalation study is completed. Recruitment in dose-expansion is ongoing in India and Korea Part C study in subjects with treatment-refractory/intolerant is enrolling globally.

 Chronic myeloid leukemia (CML) /  London

Posted 4 days ago by Wales Gene Park

Brief Summary Phase 1/2 study to determine safety, tolerability, pharmacokinetics, and anti-leukemic activity of Vodobatinib (K0706) in treatment-refractory/intolerant CML Detailed Description Part A ( for Healthy volunteers) of the study is completed Part B dose-escalation study is completed. Recruitment in dose-expansion is ongoing in India and Korea Part C study in subjects with treatment-refractory/intolerant is enrolling globally.

 Chronic myeloid leukemia (CML) /  London

Posted 2 years ago by Wales Gene Park

The goal of this clinical trial is to assess the long-term safety and efficacy of GS010, a gene therapy, and assess the quality of life in subjects with LHON due to the G11778A ND4 mitochondrial mutation and who were treated in the Rescue or Reverse studies.

 Leber Hereditary Optic Neuropathy /  London

Posted 3 weeks ago by Wales Gene Park

Brief Summary RATIONALE: The current global standard of care after nephrectomy for localised Renal Cell Carcinoma (RCC) therefore remains active monitoring (i.e., observation by clinical and radiological means). 30-40% patients with initially localised RCC develop metastatic disease following nephrectomy. Need for adjuvant therapy is most marked in the high risk population where outcomes are predictably poor. However, the risk of recurrence in patients who are of intermediate risk of recurrence is not insignificant. Unfortunately, despite showing efficacy in advanced RCC, the results in the adjuvant setting, so far, are inconclusive. AIM: RAMPART is a phase III Multi-Arm Multi-Stage randomised controlled platform trial, initiated with three arms. The trial is assessing if durvalumab monotherapy or the combination of durvalumab and tremelimumab can improve Disease Free Survival (DFS) or Overall Survival (OS) compared to the current global standard-of-care (active monitoring). At the start of recruitment, patients with Leibovich scores 3 to 11...

 Renal Cell Carcinoma /  Cardiff

Posted 4 weeks ago by Wales Gene Park

Detailed Description This is a multicenter, observational study of participants receiving Translarna based on inclusion of their data in a registry. This study is intended to enroll 270 participants across ~50 care centers in Europe and other regions over a period of ~ 2 years. The study population will include participants who are receiving usual care treatment with commercial supply of Translarna (or receiving care within a named participant early access program) and who provide consent. Participants will be followed for at least 5 years from their date of enrollment. Safety and efficacy data will be collected in conjunction with routine visits conducted as per usual care. Although there are no protocol-mandated procedures, it is expected that physicians and other caregivers will follow published treatment guidelines and standards of care. This study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the...

 Duchenne Muscular Dystrophy /  London

Posted 3 weeks ago by Wales Gene Park

Brief Summary This study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety, effectiveness, and prescription patterns in routine clinical practice. Detailed Description This is a multicenter, observational study of participants receiving Translarna based on inclusion of their data in a registry. This study is intended to enroll 270 participants across ~50 care centers in Europe and other regions over a period of ~ 2 years. The study population will include participants who are receiving usual care treatment with commercial supply of Translarna (or receiving care within a named participant early access program) and who provide consent. Participants will be followed for at least 5 years from their date of enrollment. Safety and efficacy data will be collected in conjunction with routine visits conducted as per usual care. Although there...

 Duchenne Muscular Dystrophy /  Bristol

Posted 3 years ago by Wales Gene Park

Approximately 25% of children with epilepsy have “Rolandic Epilepsy” or RE, also known as Benign Epilepsy with Centrotemporal Spikes (BECTS). RE is diagnosed with the help of an electroencephalograph (EEG) or brainwave test. Children with RE quite often have other symptoms that affect their speech, attention, reading ability or coordination. We know that RE has a genetic basis and we recently discovered the genetic cause of the EEG pattern seen in RE. The goal of REGAIN is to now find the genetic basis for susceptibility to seizures and the associated symptoms above. Our hope is to be able to improve diagnosis and understand why each child with RE is different, and perhaps point us towards new treatments that are more effective and have fewer side effects. We will compare the genetic code of 3,000 children with RE against a similar number of people not affected by epilepsy. With the proposed...

 Rolandic epilepsy /  London

Posted 3 years ago by Wales Gene Park

Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients  

 Leber Hereditary Optic Neuropathy /  England

Posted 6 months ago by Wales Gene Park

This study will evaluate a new maintenance therapy with the aim of improving the outcome of patients with acute myeloid leukaemia (AML) and myelodysplasia (MDS) after stem cell transplantation.

 Acute myeloid leukaemia

Posted 6 months ago by Wales Gene Park

High blood pressure (hypertension) causes strokes and heart attacks. While most patients need long-term treatment with pills, some have a cause which can be removed, curing the hypertension. The commonest curable cause is a benign nodule in one of the hormone glands, the adrenals. About one in 20 patients have such a nodule, but difficulties with diagnosis, and reluctance to proceed to surgery for a bengin condition, limit the number having adrenal gland surgery to fewer than 300 per year in the UK. A potential, and exciting, solution to this dilemma is to use a momentary electric current to cauterise the nodule (radiofrequency ablation), without affecting the rest of the adrenal gland, and avoiding the need for surgery. Nodules in the left adrenal gland are easily reached under mild sedation using a similar procedure as is standard for investigating stomach ulcers (endoscopy). The study is designed to show that this...

 Adrenal Adenoma

Posted 6 months ago by Wales Gene Park

The FAST Trial Registry is a prospective observational cohort study of fetuses with a new diagnosis of atrial flutter (AF) or supraventricular tachycardia (SVT) that is severe enough to consider prenatal treatment (see eligibility criteria below). Aims of the Registry include to establish a large clinical database to determine and compare the efficacy and safety of different prenatal treatment strategies including observation without immediate treatment, transplacental antiarrhythmic fetal treatment and direct fetal treatment from the time of tachycardia diagnosis to death, neonatal hospital discharge or to a maximum of 30 days after birth.

 Cardiff

Posted 4 weeks ago by Wales Gene Park

Brief Summary Hypertrophic Cardiomyopathy (HCM) is an inherited heart condition. Most people who have it are unaware of any problems relating to it. Unfortunately, a small number of people with the condition can suddenly develop a dangerous fast heart beat that can lead to death. There is no cure, but implanting a cardioverter-defibrillator (ICD), which is like a pacemaker can save the life of affected individuals. However, ICD implantation has its own problems, so choosing who gets an ICD is a very important decision. The current approach for recommending people for an ICD has limitations and a better method is needed. Investigators have developed a new technique called the 'Ventricular Conduction Stability' (V-CoS). This involves wearing a special vest which records electrical signals from the heart, and then running on a treadmill. Investigators have used it to identify abnormalities in the hearts of people with (HCM) who have also survived...

 Aortic Valve Stenosis /  London

Posted 2 years ago by Wales Gene Park

This is a long-term, multi-center, observational study in children 2.5 to 10 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications and treatments of study participants. No study medication will be administered.

 Achondroplasia /  England

Posted 7 days ago by Wales Gene Park

Brief Summary This clinical investigation is a medical device trial to examine the safety and efficacy of TheraSorb sFlt-1 adsorber treatment of pregnant patients with preeclampsia.

 Eclampsia /  Oxford

Posted 6 hours ago by Wales Gene Park

Brief Summary Progressive Supranuclear Palsy (PSP), Cortico-Basal Degeneration (CBD) and Multiple System Atrophy (MSA) are degenerative brain conditions for which there are currently no curative treatments. To aid the development of new treatment trials, there is a pressing need to develop better methods for diagnosing these conditions early, and to track disease progression. The PROSPECT-M-UK study will collect standardised clinical data over time. Patients will also have the option to have a brain MRI scan, eye movement exam and donate blood, skin and spinal fluid samples, with the aim to identify "biomarkers" that can improve the accuracy of early diagnosis and track the natural time course of disease. Control participants and those not meeting criteria for Parkinson's disease or other defined conditions but are considered by the investigator group to be allied syndromes or at risk states (atypical parkinsonian syndromes), will also be examined. Patients can also participate via the...

 Progressive Supranuclear Palsy-Corticobasal Syndrome /  London

Posted 2 years ago by Wales Gene Park

Phase 3 study to evaluate the efficacy, safety and tolerability of 0.08% PHMB ophthalmic solution in subjects affected by Acanthamoeba keratitis.

 Acanthamoeba Keratitis /  England

Posted 3 years ago by Wales Gene Park

The PNET 5 study has been designed for children and young people aged from 3 yrs to 22 yrs with standard risk  medulloblastoma who have undergone surgery to remove the primary tumour. The presence of biological markers of  the WNT medulloblastoma disease subgroup (mutation of the beta¬catenin gene, or presence of the beta¬catenin  protein and loss of chromosome 6) and aged  < 16 defines the patient as Low Risk biological profile. The presence of  the WNT markers and aged 16 and over, or the absence of the WNT markers defines the patient as Standard Risk  biological profile. Low risk group patients will receive reduced doses of radiotherapy (compared to previous study PNET 4) to the brain  and spine every day for 10 days, together with boost doses to the primary tumour for a further 20 days. Maintenance chemotherapy will consist of 6 cycles of Regimen A alternating with 6 cycles...

 Medulloblastoma

Posted 3 years ago by Wales Gene Park

This research project will study a group of rare blood disorders in children, called Paediatric Myelodysplastic Syndromes (MDS).Paediatric MDS is characterised by failure of normal blood cells production. Without treatment these syndromes are usually fatal and can lead to leukaemia.The aim of this project is to improve our current understanding of the molecular pathways that lead to the disease development;identify all the disease related genetic abnormalities;document the natural history of the disease;create correlations between the clinical presentations and genetic defects and create targets for future therapies .Children with a diagnosis of Paediatric MDS from across all specialist paediatric haematology centres in the UK will be invited to participate in this project. From the study of these cases we aim to built a comprehensive picture of paediatric MDS,which is something that has not been achieved so far. We will record how these disorders present, all their clinical characteristics; laboratory tests results,...

 Myelodysplasic Syndromes

Posted 6 months ago by Wales Gene Park

The purpose of this study is to test the safety and efficacy of AUTO4 a CAR T cell treatment targeting TRBC1 in patients with relapsed or refractory TRBC1 positive selected T-Non-Hodgkin Lymphoma.

 Anaplastic Large Cell Lymphoma /  England

Posted 6 months ago by Wales Gene Park

The purpose of this study is to test the safety and efficacy of AUTO4 a CAR T cell treatment targeting TRBC1 in patients with relapsed or refractory TRBC1 positive selected T-Non-Hodgkin Lymphoma.

 Angioimmunoblastic Lymphadenopathy With Dysproteinemia

Posted 6 months ago by Wales Gene Park

The purpose of this study is to test the safety and efficacy of AUTO4 a CAR T cell treatment targeting TRBC1 in patients with relapsed or refractory TRBC1 positive selected T-Non-Hodgkin Lymphoma.

 Immunoblastic lymphadenopathy

Posted 1 year ago by Wales Gene Park

Multicenter, open-label, non-comparative study to evaluate the pharmacokinetics, pharmacodynamics, and tolerability of osilodrostat in children and adolescent patients with Cushing's disease.

 Cushing's Disease

Posted 2 years ago by Wales Gene Park

PETReA: A study to find out whether a PET-CT scan can help to tell who needs to have rituximab after the initial treatment for lymphoma. Follicular Lymphoma is a type of non Hodgkin lymphoma (NHL). Doctors usually put NHL into 2 groups, depending on how likely they are to grow and spread. The 2 groups are low grade and high grade NHL. Follicular lymphoma is a type of low grade NHL. For follicular lymphoma, you usually have treatment with a combination of cancer drugs. You might have one of the following: R-CHOP R-CVP bendamustine and rituximab (BR) This is called the induction treatment. After the induction treatment, you might have rituximab (R) alone. This is the maintenance phase. But having more treatment with rituximab doesn’t help everyone with follicular lymphoma. Doctors would like to know who needs to have rituximab after their initial treatment (induction). In this study, they are looking...

 Non-Hodgkin lymphoma /  Wales Wide

Posted 3 years ago by Wales Gene Park

PARTNER: Randomised, phase II/III, 3 stage trial to evaluate the safety and efficacy of the addition of olaparib to platinum-based neoadjuvant chemotherapy in breast cancer patients with TNBC and/or Gbrca Surgery is often used for early breast cancers. Sometimes you have chemotherapy before surgery. This is called neo adjuvant chemotherapy. It can shrink the cancer and make the surgery more successful. In this trial, researchers are looking at whether adding a drug called olaparib (also called Lynparza) improves neo adjuvant chemotherapy. Olaparib is a type of biological therapy called a PARP-1 inhibitor.  PARP is a protein that helps cells to repair. Doctors think that olaparib can stop the cancer cells from repairing themselves. In this trial, people have 1 of the following: chemotherapy chemotherapy with olaparib The chemotherapy drugs used in this trial are: paclitaxel carboplatin These are commonly used to treat breast cancer but are not routinely used to...

 BRCA1 and BRCA2 /  Wales Wide

Posted 3 years ago by Wales Gene Park

PFP is a UK wide study looking at finding new Parkinson’s genes so that we can understand the causes of the disease better and develop new treatments. The study involves a single visit that takes about 2 hours. You can come in to the study site, or take part remotely if your local GP is able to collect blood samples for the project.

 Rare types of Parkinson's disease /  Llandudno General Hospital

Posted 6 months ago by Wales Gene Park

One person in every 500 has Parkinson's and around 127,000 people are living with the condition in the UK. The aim of the study is to identify new genes that predispose or cause Parkinson's Disease or Parkinsonism. There is a pressing need to study the genetic makeup of family members both with and without Parkinson's. As families share a common genetic background, it is easier to find new Parkinson's genes by studying the genetic makeup of people with Parkinson's alongside other members of their families. We are particularly interested in studying the genetic makeup of two groups of people: those who developed Parkinson's before the age of 45; and those who have a family history of other relatives affected by Parkinson's. By identifying genetic factors that cause Parkinson's, we hope to understand more about the condition. Doing so will lead to the development of better diagnosis, improved disease models, and...

 Autosomal Recessive Juvenile Parkinson Disease /  London

Posted 2 weeks ago by Wales Gene Park

Brief Summary OxPLoreD is an observational cohort study to identify clinical, genomic and immunological predictive markers of progression to malignant disease. Open to individuals diagnosed in the last 3 years with high count MBL, Binet Stage A CLL, Immunoglobulin G/A/M (IgG, IgA, IgM) MGUS, asymptomatic WM not requiring treatment and smouldering myeloma not requiring treatment. Detailed Description The purpose of the study is to monitor patients with early stage lymphoproliferative disorders not meeting criteria for treatment, including early stage Chronic Lymphocytic Leukaemia (CLL), Monoclonal B-cell Lymphocytosis (MBL), Monoclonal Gammopathy of Uncertain Significance (MGUS), asymptomatic Waldenstroms Macroglobulinaemia (WM) and Smouldering Myeloma (SM). Each of these disorders has a pre-cancerous phase when abnormalities can be seen in the blood, however treatment may not be required. A minority of people with early stage lymphoproliferative disorders will go on to need treatment for blood or bone marrow cancer. Currently the investigators do not have...

 Chronic Lymphocytic Leukaemia (CLL) /  Oxford

Posted 2 years ago by Wales Gene Park

To evaluate long-term safety of denosumab in subjects with pediatric osteogenesis imperfecta(OI) completing Study 20130173.

 Osteogenesis imperfecta /  England

Posted 5 days ago by Wales Gene Park

Brief Summary This is an open-label extension study to evaluate the long-term efficacy, safety and tolerability of LNP023 in subjects with C3 glomerulopathy Detailed Description The purpose of this extension study is to collect and evaluate long-term efficacy, safety and tolerability data in eligible participants receiving open label LNP023 after completing the C3G proof of concept (PoC) study CLNP023X2202. Efficacy assessments at the 9 month visit of the extension study in combination with data from CLNP023X2202 (baseline plus 3 months of treatment) will afford the opportunity to evaluate the effects of LNP023 on potential endpoint(s) for the Phase III trial in C3G at 12 months of treatment. Longer-term efficacy assessments may be used as supportive information for registration purposes.

 C3 Glomerulopathy /  London

Posted 3 weeks ago by Wales Gene Park

Brief Summary Open surgery for esophageal cancer commonly involves large incisions in the chest, associated with a high rate of pulmonary complications (30-50%). Minimally invasive approach through keyhole surgery has been shown to reduce pulmonary infections by 20%. Enhanced recovery programmes are evidence-based protocols, developed to achieve early recovery after surgery with early mobilisation and chest physiotherapy and have been shown to reduce pulmonary complication rates as well. The investigators intend to objectively measure chest wall movement using 3D motion capture system as well as a wearable measurement system to monitor chest wall movement. Detailed Description The study population consists of 50 healthy volunteers who have not received upper gastrointestinal surgery and 100 patients treated with surgery more than one year ago (50 open and 50 minimally invasive). Chest wall movement will be measured using a 3D optical motion system and the investigators will establish if inertial measurement units placed...

 Esophageal Cancer /  London

Posted 1 year ago by Wales Gene Park

This is a registry study in children with achondroplasia, age 0-10 years, to be conducted at multiple clinical centers in several countries. Information collected will include in anthropometric characteristics, related symptoms, tests, & treatments Children's information will be collected in the registry for a maximum of 5 years.

 Achondroplasia

Posted 3 weeks ago by Wales Gene Park

Brief Summary NorAD is a clinical trial funded by the UK National Institute of Health Research. In this trial the investigators will assess whether a long-acting preparation of guanfacine, a drug used to treat Attention Deficit Hyperactivity Disorder in children, can improve thinking (particularly attention) in Alzheimer's Disease when it is added to the standard NICE-approved drugs that are normally used in this condition. This is a randomized clinical trial designed to evaluate the efficacy of extended-release guanfacine as an add-on therapy in AD, and whether it improves cognition compared to standard cholinergic therapy alone. Detailed Description There is evidence suggesting that both noradrenaline and acetylcholine have key roles to play in attention. Guanfacine acts by increasing levels of noradrenaline, a substance in the brain which is closely linked with attention, both noradrenaline levels and attentional performance have been shown to be reduced in Alzheimer's Disease. In this study the...

 Familial Alzheimer's Disease /  London

Posted 2 years ago by Wales Gene Park

Mitochondria are important parts of the cell that are responsible for producing energy. The amount of energy they produce depends on how much energy the body needs to function and this energy production can be severely impaired in people with mitochondrial disease. Symptoms of mitochondrial disease vary widely but usually involve the brain, nerves and muscles, as these are tissues that need a lot of energy. Mitochondrial disorders affect 1 in 5000 of the UK population and there is currently no cure. Some scientists think that increasing the number of mitochondria in the body (mitochondrial biogenesis) might be an effective treatment for the symptoms of mitochondrial disease. Studies carried out in mice have shown that a type of B-vitamin called Nicotinamide Riboside (NR) is able to increase the number of mitochondria, leading to increased energy and a reduction in the symptoms of mitochondrial disease. The aim of this study is...

Posted 3 weeks ago by Wales Gene Park

Brief Summary In preparation for human clinical trials we intend to undertake a detailed phenotypic study to help to identify patients who may be suitable for therapeutic intervention. In addition, with the recent availability of advanced imaging modalities, further detailed phenotypic investigations will also be valuable in helping to probe the relationship between structure and function and may shed light on disease mechanisms.

 Cone Dystrophy /  London

Posted 6 months ago by Wales Gene Park

Baseline Study on Duchenne Muscular Dystrophy (DMD) in view to collect data on the natural disease course in a cohort in young male subjects aged from 5 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.

 Becker Muscular Dystrophy /  England

Posted 3 weeks ago by Wales Gene Park

Brief Summary This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a five year window Detailed Description The inherited peripheral neuropathies are often called Charcot Marie Tooth Disease (CMT), named after the three physician scientists who first described them. These are a heterogenous group of disorders caused by mutations in more than 50 different genes. The diseases cause weakness and loss of sensation in patients. There are no effective treatments for any forms of CMT. There is also limited information on the natural history of how any of...

 Charcot-Marie-Tooth Disease /  London

Posted 6 months ago by Wales Gene Park

This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Ataxia-Telangiectasia (A-T). There are two phases to this study: the Parent Study, and the Extension Phase. The Parent Study evaluates the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the symptomatic treatment of A-T. The Extension Phase evaluates the long-term safety and efficacy of IB1001 for the neuroprotective, disease-modifying treatment of A-T.

 Ataxia Telangiectasia /  Cambridge

Posted 6 months ago by Wales Gene Park

The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions. More details and online registration are available at www.mtmcnmregistry.org.

 Ophthalmology

Posted 3 weeks ago by Wales Gene Park

Brief Summary The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions. More details and online registration are available at www.mtmcnmregistry.org. Detailed Description The Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry is managed and operated by the John Walton Muscular Dystrophy Research Centre at Newcastle University, in partnership with the Myotubular Trust, and is part of the TREAT-NMD Neuromuscular Network. The registry has been developed in partnership with a number of leading neuromuscular researchers, and is jointly funded by the Myotubular Trust and Muscular Dystrophy UK. Participants register online and must provide consent before accessing the registry questionnaire. The clinical data are provided by the participants, and the genetic data are obtained by the Registry Curator via the genetic report. The MTM & CNM Registry aims to: Help identify patients for relevant clinical...

 Centronuclear Myopathy /  Newcastle

Posted 5 days ago by Wales Gene Park

Brief Summary Monitoring patients with chronic, inflammatory airways disease particularly in the early stages is hampered by the relative insensitivity of current outcome measures to detect subtle changes. Multiple breath washout is a potential sensitive test that is a useful readout of disease at these early stages but it lacks standardisation and knowledge of variability with reference to standard lung function measures. This is a Cross sectional and longitudinal observation study. The hypothesis is that multiple breath washout-derived indices will provide a robust signal of gas mixing inhomogeneity, correlating with conventional measures of airway disease severity. Multiple breath washout performed on different devices will generate indices which correlate but differ in value. Detailed Description Lung Clearance Index (LCI) has been shown to be more sensitive and perhaps more applicable in early stages of lung disease when compared to currently utilised physiological outcome measures, and yet it is not approved by...

 Respiratory /  London

Posted 6 months ago by Wales Gene Park

Arrhythmogenic ventricular cardiomyopathy (AVC) is a genetic condition which affects the heart and can lead to heart failure and rhythm problems, of which, sudden cardiac arrest or death is the most tragic and dangerous. Diagnosis and screening of blood-relatives is very difficult as the disease process can be subtle, but sufficient enough, so that the first event is sudden death. The Mayo Clinic AVC Registry is a collaboration between Mayo Clinic, Rochester, USA and Papworth Hospital, Cambridge University Hospitals, Cambridge, UK. The investigators aim to enroll patients with a history of AVC or sudden cardiac death which may be due to AVC, from the US and UK. Family members who are blood-relatives will also be invited, including those who do not have the condition. Data collected include symptoms, ECG, echocardiographic, MRI, Holter, loop recorder, biopsies, exercise stress testing, blood, buccal and saliva samples. Objectives of the study: Discover new genes...

 Arrhythmogenic Right Ventricular Cardiomyopathy /  Cambridge

Posted 3 weeks ago by Wales Gene Park

Brief Summary Arrhythmogenic ventricular cardiomyopathy (AVC) is a genetic condition which affects the heart and can lead to heart failure and rhythm problems, of which, sudden cardiac arrest or death is the most tragic and dangerous. Diagnosis and screening of blood-relatives is very difficult as the disease process can be subtle, but sufficient enough, so that the first event is sudden death. The Mayo Clinic AVC Registry is a collaboration between Mayo Clinic, Rochester, USA and Papworth Hospital, Cambridge University Hospitals, Cambridge, UK. The investigators aim to enroll patients with a history of AVC or sudden cardiac death which may be due to AVC, from the US and UK. Family members who are blood-relatives will also be invited, including those who do not have the condition. Data collected include symptoms, ECG, echocardiographic, MRI, Holter, loop recorder, biopsies, exercise stress testing, blood, buccal and saliva samples. Objectives of the study Discover...

 Familial Dilated Cardiomyopathy /  Cambridge

Posted 6 months ago by Wales Gene Park

The primary objectives of this study are: To confirm the safety and tolerability of magrolimab monotherapy in a relapsed/refractory (R/R) acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) population, and of magrolimab in combination with azacitidine in previously untreated participants with AML or MDS and participants with R/R AML and MDS To evaluate the efficacy of magrolimab monotherapy in R/R AML/MDS, and of magrolimab in combination with azacitidine in previously untreated participants with AML/MDS, or R/R AML/MDS as measured by complete remission (CR) rate for participants with AML and higher-risk MDS, and duration of complete response for participants with AML and higher-risk MDS, and duration of CR for participants with AML and higher-risk MDS To evaluate the safety, tolerability, and efficacy of magrolimab monotherapy or combination with azacitidine in low-risk MDS participants as measured by red blood cell (RBC) transfusion independence rate

 Acute myeloid leukaemia

Posted 3 weeks ago by Wales Gene Park

Brief Summary This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency. Participation in the Registry by both physicians and patients is voluntary. Detailed Description Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lysosomal storage disorder (LSD) that is caused by a marked decrease of lysosomal acid lipase (LAL), the enzyme that breaks down cholesteryl esters and triglycerides in the lysosomes. Lysosomal Acid Lipase Deficiency presenting in infants (historically called Wolman Disease) is a medical emergency with rapid disease progression over a period of weeks that is typically fatal within the first 6 months of life. More commonly, LAL Deficiency presents in children and adults and this presentation has been historically called Cholesteryl Ester Storage Disease (CESD). In general, data on the prevalence of LAL...

 Cholesteryl Ester Storage Disease (CESD) /  London

Posted 3 years ago by Wales Gene Park

Analysis of genes and their functions in patients with primary lymphoedema The aim of this study is to Identify new genes linked with unexplained lymphoedema

 Milroy Disease /  University Hospital of Wales

Posted 6 months ago by Wales Gene Park

This is a non-interventional, multinational, multi-center post-marketing study, to further document the safety and efficacy of pasireotide s.c. administered in routine clinical practice in patients with Cushing's disease. Patients with Cushing's disease and treated with pasireotide s.c. alone and in combination with other therapies will be monitored. For this study, each enrolled patient will be followed up for 3 years after enrollment. Patients who permanently discontinue pasireotide s.c. prior to completing the 3-year observation period will be followed up for 3 months after the last dose of pasireotide s.c.

Posted 6 months ago by Wales Gene Park

Liver Diseases in pregnancy represents rare disorders and current data is derived primarily from single centres and retrospective cohorts. Moreover, the population prevalence of these diseases is low and to-date, it has proven difficult to generate reliable data at a patient level. This is a multi-center, prospective cohort study that will open at 3 centers within the UK; and 4 centers in the European Union. The investigators will aim to collect data and blood samples at various time points, for patients presenting with liver disease during pregnancy. The main rationale behind this study is to establish a platform that enables detailed review of the outcomes of these rare diseases; to help classify and stratify patients according to risk and develop interventional studies and care pathways to improve overall outcome.

 Acute fatty liver of pregnancy

Posted 7 days ago by Wales Gene Park

Brief Summary This observational study aims to develop and validate quantitative magnetic resonance imaging biomarkers as measures of disease activity in juvenile idiopathic arthritis (JIA). This includes patients with enthesitis-related arthritis (ERA).

 Juvenile Idiopathic Arthritis /  London

Posted 6 months ago by Wales Gene Park

A randomised phase II double-blinded placebo-controlled trial designed to explore the utility of immunotherapy for patients with acute psychosis associated with anti-neuronal membranes (NMDA-receptor or Voltage Gated Potassium Channel). Primary objective: To test the efficacy of immunotherapy (IVIG and rituximab) for patients with acute psychosis associated with anti-neuronal membranes. Secondary objective: To test safety of immunotherapy (IVIG and rituximab) for patients with acute psychosis associated with anti-neuronal membranes.

 Autoimmune Encephalitis /  England

Posted 2 years ago by Wales Gene Park

Magnetic Resonance Imaging (MRI) can be used to take a variety of pictures of the brain. Researchers at Cardiff University have developed new methods to look in more detail at each of the brain regions. They are conducting a study that aims to improve their understanding of these new measurements, and how they relate to changes in the brain. To achieve this, they plan to carry out scans of healthy volunteers and of patients with movement disorders.  They aim to recruit 20 people diagnosed with movement disorders and 20 healthy volunteers, and are specifically looking to include patients with SCA2 and SCA6. The researchers hope that this study will contribute towards being better able to monitor individuals with movement disorders, specifically ataxias, and may be helpful when planning future trials. Participants would need to travel to Cardiff but travel expenses will be provided

 Ataxia /  Cardiff

Posted 3 years ago by Wales Gene Park

Relapse (the chance of disease coming back after treatment) is very high in acute myeloid leukaemia even after  curative approaches with intensive chemotherapy and bone marrow transplantation. The bone marrow  microenvironment which includes the stromal cells (MSC) surrounding the blood cells/leukaemia cells is thought to  be a key player in chemotherapy resistance and acts as a sanctuary site for minimal residual disease (MRD) from  which relapse may occur. Once MRD is detectable, frank relapse is likely within a short time-frame affording  insufficient time for effective salvage interventions. In addition, a large proportion of patients there is no informative  MRD marker thus disease relapse can occur with little warning. In this study, we aim to investigate the role of patient  MSC in protecting AML cells at different stages of treatment including post chemotherapy and after stem cell  transplantation. By developing a 3D dynamic model of leukaemia-stroma interactions which can better mimic...

 Acute myeloid leukaemia /  Cardiff University

Posted 5 days ago by Wales Gene Park

Brief Summary Polymyositis (PM), dermatomyositis (DM) and inclusion body myositis (IBM)belong to a group of inflammatory muscle disorders, of unknown cause, that are characterised by skeletal muscle inflammation and progressive muscular weakness, which can be debilitating and chronic in nature (occasionally fatal). The current treatment options for these conditions are steroids and various other immunosuppressive drugs. However, these are usually only partially effective at reducing symptoms, and their toxic side effects also limit their usefulness. In order to develop more specific treatments for myositis in the future (and therefore more effective), it is important to understand the exact mechanisms that cause the disease in the first instance. In other similar inflammatory diseases such as rheumatoid arthritis (RA) and systemic lupus (SLE), it is known that changes to the Human Leukocyte Antigen(HLA), as well as certain inflammatory cytokines, are involved in both the development and expression of the disease. As many...

 Dermatomyositis /  Manchester

Posted 4 weeks ago by Wales Gene Park

Brief Summary This trial is to investigate the combination of selumetinib and dexamethasone in the treatment of acute lymphoblastic leukaemia (ALL) in both adults and children. Phase I is to find the most suitable dose of selumetinib to safely give with dexamethasone. Phase II will use this dose to find out how well the combination works. Detailed Summary Acute lymphoblastic leukaemia (ALL) is the most common childhood cancer worldwide. The overall newly diagnosed ALL cure rate is approaching 90% however children with relapsed ALL often do not survive. The frequency of ALL in adults is significantly lower however more challenging to treat compared to childhood ALL. Adult ALL is more resistant to chemotherapy and patient have reduced treatment tolerance (particularly the elderly population) therefore overall survival rates are low. Therefore there is a need to develop more effective treatment which improves survival rates for this patient population. Those eligible in...

 Acute lymphoblastic leukaemia (ALL) /  Birmingham

Posted 6 months ago by Wales Gene Park

The study PNET 5 MB has been designed for children with medulloblastoma of standard risk (according to the risk-group definitions which have been used so far; e.g. in PNET 4). With the advent of biological parameters for stratification into clinical medulloblastoma trials, the ß-catenin status will be the only criterion according to which study patients will be assigned to either treatment arm PNET 5 MB - LR or to PNET 5 MB - SR, respectively. The initial diagnostic assessments (imaging, staging, histology, and tumor biology) required for study entry are the same for both treatment arms.

 Medulloblastoma /  London

Posted 3 weeks ago by Wales Gene Park

Brief Summary The purpose of this study is to collect clinical, laboratory, and patient survey data from patients with Castleman disease to improve understanding, diagnosis, and treatment of the disease. Detailed Description This project is supported by the Castleman Disease Collaborative Network. Visit the CDCN website at http://www.cdcn.org/accelerate to sign up for the ACCELERATE registry! The ACCELERATE patient registry will give patients and families the opportunity to contribute their medical data to improve understanding of Castleman Disease. The patient registry will obtain real-world demographic, clinical, laboratory, and patient reported outcomes, and treatment data from 500 patients worldwide with Castleman Disease. This registry will help to provide important data for future Castleman Disease research studies. The patient registry helps centralize information on this rare disease, and provides researchers a way to obtain data on Castleman Disease patients. The major objectives for the registry include: Improve our understanding of the natural history...

 Castleman Disease /  London

Posted 6 months ago by Wales Gene Park

The main purpose of this study is : To establish which number of doses of gemtuzumab ozogamicin (up to a maximum of 3 doses) is tolerated and can be safety delivered in combination with cytarabine plus mitoxantrone or liposomal daunorubicin in induction To compare mitoxantrone (anthracenedione) & cytarabine with liposomal daunorubicin (anthracycline) & cytarabine as induction therapy. (Randomisation 1 (R1) closed early to recruitment on 8th September 2017, due to liposomal daunorubicin manufacturing issues resulting in unavailability of the drug.) To compare a single dose of gemtuzumab ozogamicin with the optimum tolerated number of doses of gemtuzumab ozogamicin (identified by the dose-finding study) when combined with induction chemotherapy. To compare two consolidation regimens: high dose cytarabine (HD Ara-C) and fludarabine & cytarabine (FLA) in standard risk patients. To compare the toxicity and effectiveness of two haemopoietic stem cell transplant (HSCT) conditioning regimens of different intensity: conventional myeloablative conditioning (MAC) with...

 Acute myeloid leukaemia /  Noah's Ark Children's Hospital for Wales

Posted 6 months ago by Wales Gene Park

Anaplastic thyroid cancer has historically proven very difficult to research due to a combination of its rarity and the associated short survival period for those affected. In 2009, 2340 patients in the UK were diagnosed with thyroid cancer with 70-90 expected to be the anaplastic subtype 1,2. For these patients average life expectancy is in the range of 2-6 months with only a very small number surviving for more than one year. It is a highly aggressive form of cancer that is refractory to current treatment options. By collecting tissue and blood samples along with clinical data across the UK we will be able to accumulate numerically significant numbers of samples and data points which will facilitate research opportunities. Researchers will be encouraged to apply for access to the collected samples in order to try and establish the causal mechanisms for disease development, potential therapeutic targets and to relate clinical...

 Anaplastic Thyroid Cancer /  Velindre Cancer Centre

Posted 3 years ago by Wales Gene Park

IMPORT: A study looking at improving treatment for children with kidney cancer This study will collect information about children diagnosed with kidney cancer (renal cancer) such as Wilms’ tumour, to help with decisions about treatment in the future.

 Paediatric Cancers /  Cardiff

Posted 3 weeks ago by Wales Gene Park

Brief Summary This international study evaluates the impact of home-based caregiver-delivered music and reading interventions for people with dementia. The project aims to address the need for improved informal dementia care by training family caregivers to utilise a music or reading intervention with the person they are caring for. The interventions aim to decrease behavioural and psychological symptoms of dementia as well as improve quality of life and well being of both people living with dementia and their caregivers. Participants will be allocated into a music intervention group, a reading intervention group or standard care group. In addition, the researchers will seek to determine the cost-effectiveness of using the music intervention. Detailed Description This three-arm parallel-group randomised controlled trial will involve 495 couples (cohabiting caregivers and people with dementia) across 5 countries. Caregivers allocated to the music or reading intervention groups will be given three 2-hour training sessions in the...

 Familial Alzheimer's Disease /  Cambridge

Posted 3 years ago by Wales Gene Park

Cerebra is a charity who support children across the UK with brain conditions, working in partnership with Cardiff University, they are dedicated to improving mental health services and information available to children with rare genetic developmental conditions such as DiGeorge Syndrome and Kleefstra Syndrome which cause individuals to experience neurodevelopmental problems. They are looking for parents of children with genetic developmental conditions, as well as voluntary support workers and clinicians who support these children and individuals involved in health care policy development and implementation to join their project advisory group. The group will meet around 3 times a year for members to discuss the projects development and give their input on how we should progress going forward. We feel that getting this level of input from representatives of these groups is extremely important to the success of our work so, please do not hesitate to contact Lowri O’Donovan, Research Associate...

 Intellectual disabilities and developmental delay /  Cardiff

Posted 3 weeks ago by Wales Gene Park

This study will determine the pharmacodynamically-active dose of gevokizumab and the tolerable dose and preliminary efficacy of gevokizumab in combination with the standard of care anti-cancer therapy in patients with metastatic colorectal cancer, metastatic gastroesophageal cancer and metastatic renal cell carcinoma.

 Renal Cell Carcinoma /  London

Posted 3 years ago by Wales Gene Park

The Genetics of Endocrine Tumours is an observational clinical trial. The study currently has 500 families and 3000 sporadic subjects recruited from almost 50 NHS sites around the country. Any patient with a pituitary tumour is eligible to enrol, though we are particularly interested in the cohort of familial isolated pituitary adenoma (FIPA) patients. FIPA accounts for around 5% of pituitary adenomas with 20% of these patients having a mutation in the gene Aryl Hydrocarbon Receptor Interacting protein (AIP). Our study has helped to characterise AIP and other novel genes that contribute to pituitary tumorigenesis. We are lucky to receive regular bloods and fresh tissue from pituitary tumour patients which are used for DNA/RNA analysis, tissue culture and in-vivo models.

 Genetics /  Cardiff University

Posted 4 weeks ago by Wales Gene Park

Summary This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has. This project is to understand modifier genes and how they influence the severity of disease expression, along with identifying new forms of CMT which have not been genetically determined. Subjects who are eligible will either have CMT type 1A (CMT1A) or an unknown form of CMT. Blood will be drawn and sent to the University of Miami where they receive the coded sample and process it through exome sequencing. Subjects will be told that this is optional.  

 Charcot-Marie-Tooth Disease /  London

Posted 3 years ago by Wales Gene Park

We are carrying out research into conditions that affect the brain and / or the immune system. The disorders that we are interested in most likely arise due to changes in genes (or DNA); genes are like recipe books, telling the cells in our body how to make chemicals called proteins. The aim of our work is to understand how changes in the genes and proteins involved in these conditions cause disease. This is not understood at present, and so this research will provide new and important information. We believe that a better understanding of the cause of these diseases will bring us closer to developing ‘smart’ treatments for people affected by, or at risk of, these genetic conditions. The study is likely to take several years to complete and there may be no direct benefit from this research to your child. There would also not be any financial benefit....

 Neurology /  University Hospital of Wales

Posted 6 months ago by Wales Gene Park

High-grade squamous intraepithelial lesions (HSIL) and anal cancer are rising in incidence and at highest risk are HIV positive men who have sex with men (MSM). This pilot study assessing anal function and patient-reported outcomes before and after laser ablation of HSIL will add to the evidence that such a therapy is an acceptable and safe treatment to offer in a preventative setting.We will be recruting HIV positive and negative MSM.

 Colorectal cancers /  London

Posted 4 weeks ago by Wales Gene Park

Brief Summary The purpose of this European, multicentric, prospective, non-interventional study is to document and evaluate the efficacy and safety of the treatment of severely infected patients with intravenously administered fosfomycin, including patients with osteomyelitis, complicated urinary tract infection, nosocomial lower respiratory tract infection, bacterial meningitis/central nervous system infection, bacteraemia/sepsis, skin and soft tissue infection, endocarditis or other infections, each as far as covered by the respective nationally relevant SmPC.

 Bacterial Meningitis /  England

Posted 3 years ago by Wales Gene Park

FOCUS4: A trial looking at different treatments for different types of bowel cancer Not all bowel cancers are the same and tests can be done on tumour samples from patients with bowel cancer that may help select the best treatment for that individual patient. There are a number of new cancer drugs that may be more beneficial in one type of bowel cancer than another. The FOCUS4 trial programme aims to recruit over 1500 patients at centres across the UK to evaluate how well these new cancer drugs work in different types of bowel cancer. Patients diagnosed with bowel cancer which is not removable by surgery or has spread to elsewhere in their body will be invited to join this programme of trials. Patients who decide to join will be started on a course of chemotherapy (a form of drug treatment aimed to kill the cancer cells) for up to...

 Rare Bowel Cancers /  Cardiff University

Posted 3 weeks ago by Wales Gene Park

Brief Summary The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician. The primary objectives of the Registry are: To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease; To assist the Fabry medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care; To characterize and describe the Fabry population as a whole; To evaluate the long-term safety and effectiveness of Fabrazyme® Fabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of...

 Fabry Disease /  London

Posted 6 months ago by Wales Gene Park

Rationale: Most recent insights in the treatment for patients with ANCA-associated vasculitis (AAV) have demonstrated that 'tailored' maintenance treatment with rituximab (RTX) is effective to achieve durable remission of disease. As such, RTX re-treatment can be tailored on the basis of relevant immunological parameters that reflect minimal residual autoimmunity (MRA) in AAV patients. Now, the present study intends to evaluate whether combining rituximab with cyclophosphamide is superior to current standard of care with rituximab only to induce a favorable immunological state of MRA in AAV patients that can beneficially influence, i.e. reduce, the necessity of tailored re-treatment with rituximab

 ANCA Associated Vasculitis /  London

Posted 2 years ago by Wales Gene Park

European Integrated Project on the Spinocerebellar Ataxias (EUROSCA) recruiting participants at the London Specialist Ataxia Centre This is a multi-centre European project that started due to funding from the European Commission in 2008. One of the ongoing aims of this European collaboration is to establish a database containing clinical and genetic information from patients with a group of spinocerebellar ataxias. This will be the largest registry of patients with such rare diseases. The focus is specifically on SCA1, SCA2, SCA6 and SCA7. The Centre is also in a similar project on SCA3.  

 Ataxia /  London

Posted 3 years ago by Wales Gene Park

Enroll-HD is a global observational study for Huntington’s disease families The purpose of this study is to collect information from study participants, allowing researchers to understand more about the disease, with the aim of accelerating the discovery and development of potential treatments for Huntington's Disease (HD). It will monitor how the disease appears and changes over time in different people; those who have a clinical diagnosis and those who are at-risk of developing the disease. ENROLL-HD also collects information from HD family members and carers.  

 Huntington's Disease /  Cardiff University

Posted 4 weeks ago by Wales Gene Park

Brief Summary This is a randomized, double blind, active-controlled, parallel group, multicenter 52-week Phase 3 study to compare the efficacy and safety of benralizumab 30 mg versus mepolizumab 300 mg administered by subcutaneous (SC) injection in patients with relapsing or refractory EGPA on corticosteroid therapy with or without stable immunosuppressive therapy. All patients who complete the 52-week double-blind treatment period on IP may be eligible to continue into an open label extension (OLE) period. The OLE period is intended to allow each patient at least 1 year of treatment with open-label benralizumab 30 mg administered SC (earlier enrolled patients may therefore be in the OLE for longer than 1 year).

 ANCA Associated Vasculitis /  London

Posted 3 weeks ago by Wales Gene Park

Brief Summary The objective of the trial is to assess efficacy and safety of add-on aerosolized liposomal cyclosporine A (L-CsA) to Standard of Care (SoC) therapy as compared to SoC therapy alone in the treatment of Bronchiolitis obliterans syndrome (BOS) in double lung transplant recipients. Detailed Description This is a Phase III randomized, controlled clinical trial of L-CsA for the treatment of bronchiolitis obliterans syndrome in adults diagnosed with BOS following double lung transplant. Patients will receive either L-CsA (10 mg) via the PARI Investigational eFlow® Device twice daily plus Standard of Care (SoC) treatment, or SoC alone, for a period of 48 weeks. All patients will be eligible to continue in an open-label extension trial of L-CsA following completion of BOSTON-2. Regardless of treatment allocation, all patients will continue to receive their SoC regimen for maintenance of the lung allograft. Eligible patients for the clinical trial must have a...

 Bronchiolitis Obliterans

Posted 3 weeks ago by Wales Gene Park

Brief Summary The objective of the trial is to assess efficacy and safety of add-on aerosolized liposomal cyclosporine A (L-CsA) to Standard of Care (SoC) therapy as compared to SoC therapy alone in the treatment of Bronchiolitis obliterans syndrome (BOS) in single lung transplant recipients. Detailed Description This is a Phase III randomized, controlled clinical trial of L-CsA for the treatment of bronchiolitis obliterans syndrome in adults diagnosed with BOS following single lung transplant. Patients will receive either L-CsA (5 mg) via the PARI Investigational eFlow® Device twice daily plus Standard of Care (SoC) treatment, or SoC alone, for a period of 48 weeks. All patients will be eligible to continue in an open-label extension trial of L-CsA following completion of BOSTON-1. Regardless of treatment allocation, all patients will continue to receive their SoC regimen for maintenance of the lung allograft. Eligible patients for the clinical trial must have a...

 Bronchiolitis Obliterans /  Cambridge

Posted 6 months ago by Wales Gene Park

Aortic stenosis is the most common valvular disease in the Western world. It is caused by progressive narrowing of the aortic valve leading to increased strain on the heart muscle which has to work increasingly hard to pump blood through the narrowed valve. Over time the heart muscle thickens to generate more force, but eventually the heart fails leading to death if the valve is not replaced with an operation. No medical treatments exist to stop or reverse the heart valve narrowing. Current clinical guidelines suggest that an operation should be performed only when symptoms develop or the heart muscle is visibly weak on cardiac ultrasound scanning. However, symptoms can be difficult to interpret and in many patients the heart muscle has become irreversibly damaged and the heart fails to recover following surgery. Using MRI scans of the heart, the investigators have identified heart scarring which seems to develop as...

 Aortic Valve Stenosis /  Scotland

Posted 6 months ago by Wales Gene Park

DICE is a randomised study recruiting 126 women over 3 years from hospitals in the UK and Germany. Eligible patients will have tissue based diagnosis of advanced/recurrent ovarian cancer (clear cell, endometrioid or high grade serous or carcinosarcoma), have had chemotherapy before, and be platinum-resistant (the cancer has returned/grown significantly during or within 6 months of platinum-containing chemotherapy).

 Gynaecological Cancer

Posted 2 weeks ago by Wales Gene Park

Brief Summary The objective of this study is to evaluate the safety and tolerability of escalating doses of a gene therapy called GS030-DP (injected study treatment) administered via a single intravitreal injection and repeated light stimulation using a medical device called GS030-MD (stimulating glasses) in subjects with documented diagnosis of non-syndromic Retinitis Pigmentosa.

 Cone Dystrophy /  London

Posted 4 months ago by Wales Gene Park

The aim of the study is to create an international database of psychiatric and cognitive data on children with 22q11.2 deletion, 22q11.2 duplication, as well as 16p11.2 deletion and duplication. The project is led by the Children’s Hospital of Philadelphia. Cardiff University is the coordinating site for the United Kingdom.

 Genetics /  Cardiff University

Posted 3 years ago by Wales Gene Park

DIAMOND: A study looking at biomarkers in prostate, kidney, bladder and testicular cancer Some people have biomarkers that make them more vulnerable to develop certain types of cancer. In this study, doctors want to look for these biomarkers. They hope this information will help them: •learn more about the causes of cancer •develop better tests and treatments Everyone taking part gives blood, urine, poo and breath samples. Doctors may also ask for a tissue sample if you had, or are going to have, surgery. The main aim of this study is to look for biomarkers that might play a role in prostate, kidney, bladder and testicular cancer. Researchers are also looking for men who are going to have a biopsy to find out whether they have prostate cancer. This is part of a sub study called PRIM. Everyone taking part in the PRIM sub study has a blood test called...

 Prostate Cancer /  Bristol

Posted 3 weeks ago by Wales Gene Park

Brief Summary The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study. Detailed Description This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to...

 Charcot-Marie-Tooth Disease /  London

Posted 3 years ago by Wales Gene Park

Epileptic Encephalopathies Longitudinal Multicentre Omics Epilepsies that seriously affect the normal development of cognition and behavior are termed “epileptic encephalopathies” (EEs). Landau-Kleffner syndrome (LKS), Continuous Spikes in Slow-Wave Sleep (CSWSS) and Benign Focal Epilepsy of Childhood with Status Epilepticus during Sleep (BFEC-SES) are EEs that affect children 3-9 years old. The cause of 80% of these EEs is unknown and the course of disease is highly variable. Some children respond to treatment with high dose steroids or benzodiazepine class of drugs; however, the response cannot be predicted ahead of time and some children suffer serious side effects or fail to respond to treatment. The purpose of this study is to find new causes for these EEs and to find markers in the blood that predict the course of disease and response to treatment. Hopefully the results will help us develop tests that accurately predict which treatments will work in patients...

 Myoclonic epilepsy of infancy /  London

Posted 3 years ago by Wales Gene Park

Many cancers have hijacked growth factor receptors and or downstream signalling components through mutations that render the pathway constantly active and so drive cancer cells division. Over the last decade, drugs have been introduced that simultaneously inhibit multiple growth factor pathways (such as tyrosine kinase receptor inhibitors), single pathways (vascular endothelial growth factor receptor, transforming growth factor beta receptor, epidermal growth factor receptor and hedgehog pathway antagonists), mutated targets (B-Raf inhibitors), and downstream signalling targets (MEK inhibitors). While malignancies in patients often demonstrate an initial response to these drugs, cancer recurrence is frequently observed. My group over the last five years has defined cancer stem cells (CaSC) in the two commonest skin cancers, using internationally agreed assays. We have shown in high impact scientific publications that basal cell carcinoma (BCC) CaSC are resistant to both conventional chemotherapy and the recently approved growth factor inhibitor vismodegib. Microarray analysis of treated and...

 Oncology /  Cardiff University

Posted 3 years ago by Wales Gene Park

CORGI 2: A study to find genes that might increase or reduce the risk of bowel cancer Colorectal cancer (CRC) remains an important cause of morbidity and mortality. Identifying those at higher risk is important in targeting preventive measures, such as screening colonoscopy, to those most likely to benefit. Much of the risk of CRC and its precursor lesions (mostly polyps) is genetic, but a great deal of the heritability of CRC remains unexplained. Some of the remaining genetic risk probably results from rare genes with large effects, some from uncommon genetic variants with moderate effects and some from common differences with modest or very modest effects. The sub-division between these categories is extremely difficult to predict in advance of successful searches for these genes. The principal aim of this study is to identify additional susceptibility genes for CRC and cancers genetically related to CRC, such as endometrial cancer. This...

 Rare Bowel Cancers /  Birmingham

Posted 3 years ago by Wales Gene Park

The UK GCA Consortium is a study which aims to find out more about the causes of giant cell arteritis (GCA, sometimes called temporal arteritis) and polymyalgia rheumatica (PMR). We would also like to find out how to predict how severely a person with one of these conditions will be affected. We hope that the findings of this research will help other patients with this condition in the future by leading to the development of better treatments for this disease, with fewer side-effects than the steroid treatment that is currently standard. Certain variations in the “genetic code” are known to occur naturally within the population. Previous studies have suggested that combinations of certain genes might make someone more likely to develop GCA and PMR, or be more severely affected than others, or respond to treatment in a certain way. If this is true, these findings may give clues as to...

 Giant Cell Arteritis /  Royal Glamorgan Hospital

Posted 2 years ago by Wales Gene Park

CHEMORES: A study to understand more about why chemotherapy to treat lung cancer can stop working This study will look for changes in blood and tissue samples before and after treatment for lung cancer, to try to find out how cancer cells stop themselves being harmed by treatment. Doctors may use surgery, radiotherapy, chemotherapy or another type of drug that targets lung cancer to treat this disease. Your treatment will depend on your type and stage of lung cancer. If you have non small cell lung cancer, you may have a combination of these. If you have small cell lung cancer, you would usually have chemotherapy. We know from research that cancer cells can become 'resistant’ to treatment. In lung cancer for example, cancer cells can sometimes reduce the concentration of the drug inside them, and repair DNA damage. And, develop changes in the genes in cancer cells that prevent the treatment from working. Understanding why resistance happens will help develop improved...

 Small cell lung cancer /  Manchester

Posted 3 years ago by Wales Gene Park

Challenge: A Phase III Study Of The Impact Of A Physical Activity Program On Disease-Free Survival In Patients With High Risk Stage II Or Stage III Colon Cancer: A Randomised Controlled Trial CHALLENGE aims to determine whether a supervised physical activity (PA) programme in patients with high risk Stage II or Stage III colon cancer will improve 3- year disease-free survival (DFS) in comparison to standard care. The impact on patient-reported outcome measures (PROMS) and quality of life will also be assessed. There is compelling observational data that PA is associated with colon cancer incidence, recurrence, survival, and quality of life. The trial arms are: Intervention: A 36 month structured physical activity programme comprising supervised physical activity sessions and behaviour support sessions and provision of general health education materials (on diet and exercise). Standard Care: Provision of general health education materials on diet and exercise only.

 Rare Non-specific /  Velindre Cancer Centre

Posted 2 years ago by Wales Gene Park

Cystic Fibrosis (CF) is an inherited disease affecting 10000 people in the UK with an average age at death of 28 years in 2012. The lungs of people with CF (PWCF) are prone to infections. Daily physiotherapy and inhaled medications are needed to stay healthy. Around £30 million is spent annually on inhaled therapy but average adherence has been shown to be only 36%. Data suggest that adherence is better in younger children but of the most of the PWCF are now adults. PWCF who collect less than 50% of their medication cost the healthcare system significantly more than PWCF who collect more than 80% and most of the additional cost results from unscheduled emergency care and hospital admission. This unscheduled emergency care is distressing for PWCF and their families. Current research investigating whether adult PWCF can build successful, self-management, treatment habits using dose-counting nebulisers to collect adherence data, displaying...

 Cystic Fibrosis /  England

Posted 3 years ago by Wales Gene Park

CASTLE - Changing Agendas on Sleep, Treatment and Learning in Childhood Epilepsy The CASTLE study is focused on Rolandic epilepsy which is the most common type of epilepsy – affecting about one-sixth of all children with epilepsy in the UK – that means over 10,000 people! We use the simple term “rolandic epilepsy” although you may also hear it referred to as “benign rolandic epilepsy” or “benign childhood epilepsy with centrotemporal spikes.” Children with Rolandic epilepsy find that their learning, sleep, behaviour, self-esteem and mood are also often affected, and the condition can cause stress in the family.

 Rolandic epilepsy /  London

Posted 3 years ago by Wales Gene Park

BRAGGSS- Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate

 Genetics /  Manchester

Posted 5 days ago by Wales Gene Park

Brief Summary To determine if carvedilol reduces the rate of variceal haemorrhage in patients with cirrhosis and small oesophageal varices Detailed Description Cirrhosis or liver scarring is an important problem in healthcare in the United Kingdom. 60,000 patients are living with this disease and about 11,000 people every year will die because of it. There are several ways in which patients with this severe form of liver disease become unwell or die and bleeding from the oesophagus or stomach is one. Cirrhosis causes pressure changes inside the abdomen and swelling of veins in the oesophagus (called "varices") which can bleed catastrophically. The investigators know that when varices are large, treatment can be initiated with medication called beta-blockers to reduce the pressure in the varices. If the varices are small, the medical community is not sure if treatment with beta-blockers will work. This study aims to address this uncertainty. Patients who...

 Oesophageal Varices /  London

Posted 3 years ago by Wales Gene Park

ATLANTIS: A trial of more treatment after chemotherapy for advanced urinary tract cancer  

 Urological Cancers /  Cardiff

Posted 2 years ago by Wales Gene Park

ASTRAEUS: A 12-week Study Treating Participants Who Have alpha1-antitrypsin-related COPD With Alvelestat (MPH966) or Placebo The purpose of this study is to investigate the effect of alvelestat (an oral neutrophil elastase inhibitor) on blood and sputum biomarkers in patients with Pizz or null genotype alpha-1 anti-trypsin deficient lung disease. Change in a number of different blood and sputum biomarkers related to lung damage, inflammation and elastase activity will be measured over a 12 week period. The effect on lung function and respiratory symptoms will also be measured.

 Alpha 1-Antitrypsin Deficiency /  Birmingham

Posted 3 years ago by Wales Gene Park

ARIEL 4: A Phase 3 Multicenter, Open-label, Randomized Study of Rucaparib versus Chemotherapy in Patients with Relapsed, High-Grade Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Globally, ovarian cancer is the eighth most common cancer and the seventh leading cause of cancer death among women. Cancer is caused by changes to genes that control the way our cells function. Chemical substances and other formulations are used in treatment. Chemotherapy is a treatment where chemical substances are used to damage and kill cancer cells. An enzyme inhibitor is a molecule that binds to an enzyme, to help slow down a reaction or to prevent unwanted change. Inhibitors are used in cancer treatments for that purpose. Rucaparib is a molecule inhibitor of enzymes. The main purpose of this study is to evaluate safety, disease status and progression-free survival of Rucaparib versus standard chemotherapy for treatment of certain ovarian, fallopian tube and primary...

 Malignant tumor of fallopian tubes /  Velindre Cancer Centre

Posted 2 years ago by Wales Gene Park

This study will evaluate the long-term safety and tolerability of RO7234292 (RG6042) in participants who have completed other F. Hoffmann-La Roche, Ltd.-sponsored and/or Genentech-sponsored studies in the Huntington's disease (HD) in the development program for RG6042. Entry into the study should occur at the time the participant completes participation in one of the preceding studies. Upon completion of the inclusion visit, eligible patients will receive either RO7234292 (RG6042) every 8 weeks (Q8W) or RO7234292 (RG6042) every 16 weeks (Q16W) by bolus intrathecal injection.

 Huntington's Disease /  Cardiff

Posted 5 days ago by Wales Gene Park

Brief Summary The overall aim of this project is to improve the outcome of patients diagnosed with ependymoma by improving and harmonising the staging and the standard of care of this patient population and to improve the investigators understanding of the underlying biology thereby informing future treatment. The program will evaluate new strategies for diagnosis (centralized reviews of pathology and imaging) and new therapeutic strategies in order to develop treatment recommendations. Patients will be stratified into different treatment subgroups according to their age, the tumour location and the outcome of the initial surgery. Each subgroup will be studied in a specific randomised study to evaluate the proposed therapeutic strategies. Stratum 1: The aim of the stratum 1 is to evaluate the clinical impact of 16-week chemotherapy regimen with VEC-CDDP following surgical resection and conformal radiotherapy in terms of progression free survival in patients who are > 12 months and <...

 Ependymoma /  Nottingham

Posted 1 month ago by Wales Gene Park

Brief Summary A Phase 3, multicenter, open-label, randomized study to evaluate the efficacy and safety of fedratinib compared to best available therapy (BAT) in subjects with DIPSS (Dynamic International Prognostic Scoring System)-intermediate or high-risk primary myelofibrosis (PMF), post-polycythemia vera myelofibrosis (post-PV MF), or post-essential thrombocythemia myelofibrosis (post-ET MF) and previously treated with ruxolitinib. The primary objective of the study is to evaluate the percentage of subjects with at least 35% spleen volume reduction in the fedratinib and the BAT arms. Detailed Description This Phase 3, multicenter, randomized, two-arm, open-label study will include subjects with intermediate or high-risk (as per the DIPSS score) primary myelofibrosis (PMF), postpolycythemia vera myelofibrosis (post-PV MF), or post-essential thrombocythemia myelofibrosis (post-ET MF). This study will be conducted in compliance with International Council for Harmonisation (ICH) Good Clinical Practices (GCPs). Study design includes: A 28-day Screening Period 2:1 Randomization to fedratinib or best available therapy (BAT) Stratification...

 Myelofibrosis

Posted 5 days ago by Wales Gene Park

Brief Summary A Phase 3, multicenter, open-label, randomized study to evaluate the efficacy and safety of fedratinib compared to best available therapy (BAT) in subjects with DIPSS (Dynamic International Prognostic Scoring System)-intermediate or high-risk primary myelofibrosis (PMF), post-polycythemia vera myelofibrosis (post-PV MF), or post-essential thrombocythemia myelofibrosis (post-ET MF) and previously treated with ruxolitinib. The primary objective of the study is to evaluate the percentage of subjects with at least 35% spleen volume reduction in the fedratinib and the BAT arms. Detailed Description This Phase 3, multicenter, randomized, two-arm, open-label study will include subjects with intermediate or high-risk (as per the DIPSS score) primary myelofibrosis (PMF), postpolycythemia vera myelofibrosis (post-PV MF), or post-essential thrombocythemia myelofibrosis (post-ET MF). This study will be conducted in compliance with International Council for Harmonisation (ICH) Good Clinical Practices (GCPs). Study design includes: A 28-day Screening Period 2:1 Randomization to fedratinib or best available therapy (BAT) Stratification...

 Essential Thrombocythemia /  London

Posted 3 years ago by Wales Gene Park

ALL-RIC:A trial comparing treatments for acute lymphoblastic leukaemia Doctors are looking for new ways to treat people with acute lymphoblastic leukaemia (ALL) to stop the leukaemia coming back. In this trial, they are comparing a usual treatment with a new combination of treatment. The usual (standard) treatment in this trial is a combination of drugs called FMA. It includes: •fludarabine – a chemotherapy drug •melphalan – a chemotherapy drug •alemtuzumab – a targeted drug The new combination of treatment includes: •cyclophosphamide – a chemotherapy drug •alemtuzumab – a targeted drug •radiotherapy to the whole body (total body irradiation or TBI) Everyone then goes on to have a stem cell transplant with stem cells from another person (an allogeneic stem cell transplant). The chemotherapy and radiotherapy in this trial are low intensity. This is to reduce the possible complications of a transplant. We know from early research that the new combination...

 Chronic Lymphocytic Leukaemia (CLL) /  England

Posted 3 years ago by Wales Gene Park

The study seeks to further understand the experiences, sibling relationships, wellbeing and the needs of adults who have a brother or sister with a learning or developmental disability. By learning/developmental disability, we mean: Autism, Cerebral palsy, Fragile X syndrome, Down syndrome, genetic disorders etc. Your brother or sister may have one of these conditions, or several. We will refer to these conditions collectively as learning/developmental disabilities throughout this study. If you agree, you will complete an online survey about these topics. We also want to explore adult siblings' caregiving role or their expectations for caring in the future, as well as the support needs of siblings of people with intellectual/developmental disabilities. This is important, because it will help us consider ways to support the wellbeing of siblings of people with intellectual/developmental disabilities and to support whatever role they decide to take in the lives of their brothers and sisters.

 Non-Specific Genetics /  England

Posted 6 months ago by Wales Gene Park

This is a multicenter, prospective, randomized, controlled phase III trial designed to assess the clinical performance of gemcitabine with cisplatin and observation vs. standard of care (observation alone in stage 1 and capecitabine and observation in stage 2) in patients after curative intent resection of BTC including an embedded sub-study for R1 resected patients receiving additional chemoradiation.

 Bile Duct Cancers /  Velindre Cancer Centre

Posted 4 weeks ago by Wales Gene Park

Brief Summary This is a multicenter, prospective, randomized, controlled phase III trial designed to assess the clinical performance of gemcitabine with cisplatin and observation vs. standard of care (observation alone in stage 1 and capecitabine and observation in stage 2) in patients after curative intent resection of BTC including an embedded sub-study for R1 resected patients receiving additional chemoradiation. Detailed Description The ACTICCA-1 investigator initiated trial is funded by the Deutsche Krebshilfe (grant number 70110215, 70112047). With respect to data obtained in the ABC-02 trial, the combination of cisplatin and gemcitabine for 24 weeks as investigational treatment was selected. Based on adjuvant trials in pancreatic cancer (e.g. ESPAC IV) with a comparable postoperative recovery time, inclusion of patients within a maximum interval of 16 weeks between surgery and start of CTx was chosen. Gemcitabine and cisplatin has a relevantly higher cumulative dose of gemcitabine 18 vs. 12 applications and may...

 Bile Duct Cancers /  Cardiff

Posted 6 days ago by Wales Gene Park

Brief Summary Add-Aspirin aims to assess whether regular aspirin use after standard curative therapy can prevent recurrence and improve survival in individuals with non-metastatic common tumours. The question will be assessed in four different tumour types (breast, colorectal, gastro-oesophageal and prostate) by means of parallel cohorts within an overarching trial protocol. Eligible participants will be randomly assigned (double-blind) to either aspirin 100mg, aspirin 300mg or a matched placebo, to be taken daily for at least 5 years. Disease recurrence and survival will be assessed, along with adherence, toxicity, and other potential effects of aspirin (eg. cardiovascular). There is a large body of evidence indicating that aspirin has anti-cancer effects. Meta-analyses of cardiovascular trials of aspirin have shown short-term effects on cancer mortality and a decrease in risk of metastases, suggesting a role for aspirin in the treatment as well as prevention of cancer. Additionally, large observational studies of individuals taking...

 Oncology /  Cardiff

Posted 4 weeks ago by Wales Gene Park

This is a randomized, placebo-controlled, double-blind dose range study in autoimmune hepatitis. The study population consists of female and male adult autoimmune hepatitis patients with incomplete response or intolerant to standard treatment of care. The diagnosis of autoimmune hepatitis has to fulfill the IAIHG criteria and must be confirmed by liver histology. Patients will be randomly assigned to different doses of VAY736 or placebo. The primary analysis is planned at 24 weeks. A subsequent study part will then test the efficacy and safety of VAY736 in a parallel group design. For this part of the trial a new group of autoimmune hepatitis patients will be enrolled.

 Autoimmune Hepatitis /  London

Posted 3 years ago by Wales Gene Park

ACTICCA-1: A trial of chemotherapy after surgery for cancer of the bile duct or gallbladder This trial is for people whose cancer has been removed or is due to be removed with an operation. It is open to people whose cancer hasn’t spread to another part of the body.

 Cardiff

Posted 4 weeks ago by Wales Gene Park

Brief Summary Multi-center, randomized, double-blind, placebo-controlled trial to evaluate the efficacy of abatacept to achieve sustained glucocorticoid-free remission in patients with relapsing non-severe granulomatosis with polyangiitis (Wegener's) (GPA) . Participants will be randomized 1:1 to receive either abatacept 125 mg or placebo administered by subcutaneous injection once a week. Participants will continue on study treatment for a minimum of 12 months unless they experience a disease relapse or disease flare. Participants who experience a non-severe disease relapse, non-severe disease worsening, or who have not achieved remission by month 6 will have the option of entering an open-label trial period whereby they would receive open-label abatacept.   Detailed Description Multi-center, randomized, double-blind, placebo-controlled trial to evaluate the efficacy of abatacept to achieve sustained glucocorticoid-free remission in patients with relapsing non-severe GPA. Patients who enter the trial will be maintained on a stable dose of their maintenance immunosuppressive agent which may include...

 ANCA Associated Vasculitis /  Cambridge

Posted 3 years ago by Wales Gene Park

This trial is for people whose acute myeloid leukaemia (AML) has come back or continued to grow following their first or second treatment.

 Acute myeloid leukaemia /  Cardiff

Posted 2 weeks ago by Wales Gene Park

Brief Summary Trial Subjects (patients), will receive single infusions of pembrolizumab every 3 weeks until disease progression or unacceptable toxicity develops. They will receive radiotherapy at week 12. Detailed Description Trial Subjects (patients) who are deemed eligible for the trial will be administered a single infusion of pembrolizumab (200mg) every 3 weeks. At week 12, patients will be planned to start radiotherapy at a dose of 12 Gray (Gy) in 3 fractions which will be given concomitantly with pembrolizumab. Patients who progress on pembrolizumab before week 12 will start radiotherapy as soon as possible after progression. Following completion of radiotherapy, patients will continue receiving pembrolizumab at 3 weekly intervals for a maximum of 2 years until disease progression or unacceptable toxicity develops. Patients on pembrolizumab will be seen every 3 weeks until 2 years after study entry, while Patients who progressed/ stopped pembrolizumab will be seen annually for survival/disease status...

 Cutaneous T-Cell Lymphoma /  London

Posted 4 weeks ago by Wales Gene Park

Summary This research study is done to test how well different types of cancer respond to the drug called larotrectinib. The cancer must have a change in a particular gene (NTRK1, NTRK2 or NTRK3). Larotrectinib is a drug that blocks the actions of these NTRK genes in cancer cells and can therefore be used to treat cancer. The primary objective of this study is to investigate the efficacy of larotrectinib for the treatment of advanced solid tumors harboring a fusion of neurotrophic tyrosine receptor kinase (NTRK) of types 1-3 in children and adults. Secondary objectives comprise the efficacy and safety of larotrectinib in different NTRK-tumor types.

 Biliary Tract Cancer /  London

Posted 3 years ago by Wales Gene Park

Conditions where lymphocytes have become cancerous are called lymphoproliferative disorders and include Chronic lymphocytic leukaemia (CLL) Mantle cell lymphoma Follicular lymphoma Hairy cell leukaemia Splenic lymphoma with villous lymphocytes Doctors want to find out more about these cancerous cells. In this study you will give samples of blood and any extra bone marrow or tissue you may have removed during routine procedures. You will also give a sample of spit (saliva). Researchers will look at both abnormal and normal cells in these samples. They will look for genes, including a particular gene called the ‘immunoglobulin gene’ that help the cancer cell to survive. And, for other gene and chromosome changes that may in future help them predict the outcome of these diseases. The aim of this study is to understand more about how changes to certain genes, proteins and sugars could affect how these diseases develop. This may help develop...

 Classic hairy cell leukemia /  Southampton

Posted 3 weeks ago by Wales Gene Park

Brief Summary Selexipag is available in many countries for the treatment of pulmonary arterial hypertension (PAH). Due to the similarities between PAH and chronic thromboembolic pulmonary hypertension (CTEPH) and the observed efficacy of other PAH medicines in CTEPH, it is believed that selexipag could benefit to patients with CTEPH. This study aims to assess the efficacy and safety of selexipag in participants with inoperable or persistent/recurrent CTEPH. Detailed Description Participants will be recruited in two sequential cohorts: approximately the first 90 randomized participants will undergo a right heart catheterization (RHC) (and left heart catheterization LHC, if needed) with measurement of pulmonary vascular resistance (PVR) at Week 20 and will constitute the hemodynamic cohort; the remaining participants will constitute the non-hemodynamic cohort; who do not require a post-baseline hemodynamic assessment. They will undergo the same overall study assessments as the hemodynamic cohort excepted for RHC at Week 20.

 Chronic Thromboembolic Pulmonary Hypertension /  London

Posted 2 weeks ago by Wales Gene Park

Brief Summary This study is a multicenter, open-label study of polatuzumab vedotin administered by intravenous (IV) infusion in combination with rituximab, gemcitabine and oxaliplatin (R-GemOx) in participants with relapsed or refractory diffuse large B-cell lymphoma (DLBCL). The study comprises of two stages: a safety run-in stage and a randomized controlled trial.

 Diffuse large B-cell lymphoma /  London

Posted 6 months ago by Wales Gene Park

The purpose of this study is to evaluate the efficacy and safety of pemigatinib versus gemcitabine plus cisplatin chemotherapy in first-line treatment of participants with unresectable or metastatic cholangiocarcinoma with FGFR2 rearrangement.

 Bile Duct Cancers /  Velindre Cancer Centre

Posted 4 days ago by Wales Gene Park

Brief Summary The purpose of this study is to evaluate the efficacy and safety of pemigatinib (INCB054828) in subjects with myeloid/lymphoid neoplasms with fibroblast growth factor receptor (FGFR) 1 rearrangement.

 Chronic Myeloproliferative Disorders /  Oxford

Posted 4 weeks ago by Wales Gene Park

Brief Summary This is an open-label, multicentre dose escalation/expansion study to assess safety and tolerability of MIV 818 as either monotherapy or in combination with 1) lenvatinib, a tyrosine kinase inhibitor used as a standard of care for the treatment of HCC or 2) pembrolizumab, a PD-1 inhibitor. The monotherapy parts of the study will include patients with various solid tumours that have spread to the liver, or alternatively originating in the liver. Evaluations of MIV-818 in combination with lenvatinib or pembrolizumab will only include patients with HCC. Detailed Description This study will be conducted in three phases. The initial phase, 1a, will enroll up to 12 subjects and include a total of one dose escalation per patient. Once pre-defined criteria for starting phase 1b monotherapy has been met among the enrolled patients in phase 1a, the next phase of the study will be initiated. Phase 1b monotherapy will enroll...

 Bile Duct Cancers /  London

Posted 4 weeks ago by Wales Gene Park

A Phase 3b, open-label, single-arm, rollover study to evaluate the long-term safety of luspatercept, to the following subjects: Subjects receiving luspatercept on a parent protocol at the time of their transition to the rollover study, who tolerate the protocol-prescribed regimen in the parent trial and, in the opinion of the investigator, may derive clinical benefit in the opinion of the investigator from continuing treatment with luspatercept. Placebo arm subjects from parent protocol (at the time of unblinding or in follow-up) crossing over to luspatercept treatment (provided subjects have met all requirements for entering the rollover study as per the parent protocol). Subjects in the follow-up phase previously treated with luspatercept or placebo in the parent protocol will continue into long-term post-treatment follow-up in the rollover study until the follow-up commitments are met (unless they meet requirements as per parent protocol to cross-over to luspatercept treatment). The study design is divided...

 Beta-thalassemia /  London

Posted 8 hours ago by Wales Gene Park

Brief Summary A Phase 3b, open-label, single-arm, rollover study to evaluate the long-term safety of luspatercept, to the following subjects: Subjects receiving luspatercept on a parent protocol at the time of their transition to the rollover study, who tolerate the protocol-prescribed regimen in the parent trial and, in the opinion of the investigator, may derive clinical benefit in the opinion of the investigator from continuing treatment with luspatercept. Placebo arm subjects from parent protocol (at the time of unblinding or in follow-up) crossing over to luspatercept treatment (provided subjects have met all requirements for entering the rollover study as per the parent protocol). Subjects in the follow-up phase previously treated with luspatercept or placebo in the parent protocol will continue into long-term post-treatment follow-up in the rollover study until the follow-up commitments are met (unless they meet requirements as per parent protocol to cross-over to luspatercept treatment). The study design...

 Chronic Myeloproliferative Disorders /  London

Posted 4 weeks ago by Wales Gene Park

Brief Summary This study will test an investigational drug called AZD1390 in combination with radiation therapy for the treatment of brain tumors. This is the first time AZD1390 is being given to patients. This study will test safety, tolerability and PK (how the drug is absorbed, distributed and eliminated) of ascending doses of AZD1390 in combination with distinct regimens of radiation therapy. Detailed Description This first time-in patients (FTIP), open-label, multicentre study of AZD1390 will be conducted in the United States and in the United Kingdom, and it consists of three treatment arms: Arm A, B, C. This Phase 1 study will assess safety and tolerability of AZD1390 in combination with radiation therapy (RT) in brain malignancies. The combination cohorts have been designed to assess escalating cumulative doses of AZD1390 in settings with 3 different radiation treatment regimens: Arm A: 35 Gy over 2 weeks with intensity-modulated radiation therapy (IMRT)...

 Ataxia /  Cambridge

Posted 6 months ago by Wales Gene Park

An open-label, global, multi-center study to evaluate the safety and pharmacokinetics of venetoclax monotherapy, to determine the dose limiting toxicity (DLT) and the recommended Phase 2 dose (RPTD), and to assess the preliminary efficacy of venetoclax in pediatric and young adult participants with relapsed or refractory malignancies.

 Acute myeloid leukaemia

Posted 3 weeks ago by Wales Gene Park

Brief Summary Fabry disease is a rare metabolic condition characterised by the widespread deposition of sphingolipids in multiple organ systems. Cardiac involvement is common, it occurs in fifty percent of patients and it is the leading cause of death. Despite this, heart and blood vessel (cardiovascular system) manifestations of Fabry disease remain poorly characterised, and it remains unclear which patients benefit from therapy, or when therapy should be initiated. Migalastat is increasingly used to treat fabry disease however the impact of Migalastat on the cardiovascular system is poorly understood. Detailed assessment of the impact of Migalastat on heart and blood vessel structure and function is urgently needed. This observational study will use state of the art, non-invasive investigations to provide greater understanding of the cardiovascular manifestations of Fabry disease and the effects of Migalastat. It will provide insight into which patients respond more effectively to Migalastat, which in turn will...

 Fabry Disease /  Manchester

Posted 1 week ago by Wales Gene Park

Brief Summary This is a phase 1B, multi-center, dose-finding study of glofitamab administered in combination with obinutuzumab (Gazyva; [G]), rituximab (R) and standard doses of CHOP (G/R-CHOP or R-CHOP) in participants with r/r NHL and G/R CHOP or Pola-R-CHP in participants with untreated diffuse large B-cell lymphoma (DLBCL). Evaluating the safety, preliminary activity, pharmacokinetic (PK), and pharmacodynamic effects of this combination will be the main objectives of this study. The study is divided in two parts: Part I: Dose finding in participants with r/r NHL; test use of G vs R in Cycle 1 Part II: Dose Expansion. The maximum tolerated dose or optimal biological dose (MTD or OBD) will be further assessed in participants with untreated DLBCL (>18 years of age with an age-adjusted International Prognostic Index (IPI) of 2-5). Glofitamab will be studied in combination with R-CHOP and Pola-R-CHP.

 Diffuse large B-cell lymphoma /  London

Posted 2 weeks ago by Wales Gene Park

Brief Summary Thrombotic thrombocytopenic purpura (or TTP for short) is a condition where blood clots form in small blood vessels throughout the body. The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop. The increased clotting that occurs in TTP uses up the cells that help the blood to clot, called platelets. With fewer platelets available in the blood, bleeding problems can occur. People who have TTP may bleed underneath the skin forming purple bruises or purpura, or from the surface of the skin. TTP also can cause anemia, a condition in which red blood cells break apart faster than the body can replace them leading to lower than normal number of red blood cells. A lack of activity in the ADAMTS13 enzyme, a protein in the blood involved in...

 Congenital Thrombotic Thrombocytopenic Purpura /  London

Posted 7 days ago by Wales Gene Park

Brief Summary The reason for this study is to see if the study drug baricitinib is safe and effective in the treatment of JIA in participants ages 1 to 17. This study is for participants that have been enrolled in studies I4V-MC-JAHV (NCT03773978) or I4V-MC-JAHU.

 Juvenile Idiopathic Arthritis /  Bristol

Posted 2 weeks ago by Wales Gene Park

Brief Summary This is a randomized, double-blind, placebo-controlled study in patients with dilated cardiomyopathy (DCM) due to a mutation of the gene encoding the lamin A/C protein (LMNA). The study will further evaluate a dose level of study drug (ARRY-371797) that has shown preliminary efficacy and safety in this patient population. After the primary analysis has been performed, eligible patients may receive open-label treatment with ARRY-371797.

 Familial Dilated Cardiomyopathy /  London

Posted 3 years ago by Wales Gene Park

Most tumours that start in the pituitary gland are adenomas which are non cancerous (benign). Some pituitary tumours make extra hormones that can cause symptoms. They are sometimes called neuroendocrine tumours. Very rarely, several members of the same family have a pituitary gland tumour. We know from research that there can be a gene that is abnormal in some of these families. Researchers want to study this and other genes to understand more about how these tumours develop. In this study, they will take blood samples from people who have a pituitary gland tumour, and from other family members. The aim of the study is to identify genes that play a part in the development of pituitary gland tumours. Please note - you won’t get any direct benefit from taking part in this study, nor will it affect any treatment you have. But may it help people in the future.

 Pituitary carcinoma /  London

Posted 3 years ago by Wales Gene Park

Doctors can use surgery to remove: prostate cancer bladder cancer penile cancer kidney cancer Doctors think that one way to monitor patients more closely when they have surgery would be to use biomarkers. A biomarker is a substance in the body that can be measured. In this study, the researchers will look at people’s blood and urine samples before and after surgery to measure certain biomarkers. The aims of this study are to Find out if surgery of the prostate, bladder, penis and kidney causes changes to biomarkers in the body See if there is a link between changes in these biomarkers and complications after surgery See if there is a link between changes in these biomarkers and the cancer coming back You will not directly benefit from taking part in this study. If the researchers find that biomarkers are useful, it could help to improve the care and treatment...

 Penile Cancer /  Wales Wide

Posted 3 years ago by Wales Gene Park

The aims of this study are to Find out if surgery of the prostate, bladder, penis and kidney causes changes to biomarkers in the body See if there is a link between changes in these biomarkers and complications after surgery See if there is a link between changes in these biomarkers and the cancer coming back

 Urological Cancers /  Wales Wide

Posted 6 months ago by Wales Gene Park

This is a Phase I/II, multicenter, open-label, multi-arm study designed to evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of idasanutlin, administered as a single agent or in combination with chemotherapy or venetoclax, in pediatric and young adult participants with acute leukemias or solid tumors. This study is divided into three parts: Part 1 will begin with dose escalation of idasanutlin as a single agent in pediatric participants with relapsed or refractory solid tumors to identify the maximum tolerated dose (MTD)/maximum administered dose (MAD) and to characterize dose-limiting toxicities (DLTs). Following MTD/MAD identification, three separate safety run-in cohorts in neuroblastoma, acute myeloid leukemia (AML), and acute lymphoblastic leukemia (ALL) will be conducted to identify the recommended Phase 2 dose (RP2D) of idasanutlin in each combination, with chemotherapy or venetoclax. Part 2 will evaluate the safety and early efficacy of idasanutlin in combination with chemotherapy or venetoclax in newly enrolled pediatric...

Posted 3 weeks ago by Wales Gene Park

Brief Summary To compare efficacy between zanubrutinib versus bendamustine and rituximab in patients with previously untreated CLL/SLL, as measured by progression free survival. Detailed Description This is a global phase 3, open label, randomized study of zanubrutinib versus bendamustine plus rituximab (B+R) in participants with previously untreated chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL/SLL), including participants without del(17p) [Cohort 1] and participants with del(17p) [Cohort 2 and Cohort 3]. Participants in Cohort 1 are randomized 1:1 to zanubrutinib (Arm A) or bendamustine plus rituximab (Arm B). Randomization will be stratified by age, Binet stage, immunoglobulin variable region heavy chain (IGHV) mutational status, and geographic region. Participants in Cohort 2 will receive treatment with zanubrutinib. Participants in Cohort 3 will receive treatment with zanubrutinib and venetoclax.

 Chronic Lymphocytic Leukaemia (CLL) /  London

Posted 3 weeks ago by Wales Gene Park

Brief Summary This is a Phase 1/2 dose-escalation study of BTCT4465A (Mosunetuzumab) administered as a single agent and in combination with atezolizumab in participants with relapsed or refractory B-cell NHL and CLL. The study will consist of a dose-escalation stage and an expansion stage where participants will be enrolled into indication-specific cohorts.

 Chronic Lymphocytic Leukaemia (CLL) /  London

Posted 4 days ago by Wales Gene Park

Brief Summary To collect and describe demographics, disease-management, and treatment outcomes of Myelodysplastic Syndromes (MDS) patients who are newly diagnosed and classified according to the World Health Organization (WHO) criteria. To perform observational studies concerning relevant scientific research questions in MDS using clinical data and biological samples, and to present relevant research outcomes in the fields of diagnosis and prognostication, health related quality of life issues, health economics, and risk stratification for newly developed classes of drugs. To disseminate results of the studies to all stakeholders involved. Methodology Data on patients with MDS will be collected prospectively at diagnosis and at 6-months intervals after diagnosis. The data will be gathered by seventeen (or more) countries that are represented within the LeukemiaNet MDS Working Party and will be combined in one central European Database. Data analyses will be conducted by the Data Management Centre at the University of York in various...

 Chronic Myelomonocytic Leukemia (CMML) /  Leeds

Posted 3 years ago by Wales Gene Park

Researchers want to know more about people who have mesothelioma, their symptoms and how it affects their life. Mesothelioma of the lung is difficult to treat. Researchers are looking for better treatments and how to improve care for people with mesothelioma. In this study they will collect information about: your quality of life any symptoms you have They will also collect medical information including: blood samples any tests you might have Mesothelioma can cause fluid to build up between the sheets of tissue that surround your lung. Treatment for this is to drain the fluid off. The researchers also want to collect samples of this fluid. The team will use this information to: find out more about mesothelioma improve the care for people with mesothelioma

 mesothelioma /  Wales Wide

Posted 3 years ago by Wales Gene Park

We will undertake a prospective study of adult MAP patients with confirmed bi-allelic mutations across collaborating European centres. Data from upper GI surveillance procedures including endoscopy and histopathology findings will be collated as an ongoing process by the Institute of Medical Genetics, Cardiff, UK where it will entered into a database and stored safely. We will also collect prospectively data on other incident cancers diagnosed in these patients. All causes of death and all dates of death will be recorded. Recruitment of patients from the European centres and consent will be obtained using local procedures, and ethical approval will be obtained in each country. As MAP is a rare disorder, and the interval between surveillance procedures may be as much as 5 years, this study is planned to take place over 20 years.

 MUTYH-Associated Adenomatous Polyposis (MAP) /  Cardiff University

Posted 4 weeks ago by Wales Gene Park

Summary This is a Phase II, multicenter, open-label, single arm, 2-stage study of tazemetostat 800 mg BID (twice daily) and 1600 mg QD (once daily). Subjects will be screened for eligibility within 21 days of the planned date of the first dose of tazemetostat and enrolled into one of 8 cohorts: Cohort using tazemetostat 800 mg BID Cohort 1 (Closed for enrollment): MRT, RTK, ATRT, and selected tumors with rhabdoid features, including small cell carcinoma of the ovary hypercalcemic type [SCCOHT], also known as malignant rhaboid tumor of the ovary [MRTO] Cohort 2 (Closed for enrollment): Relapsed or refractory synovial sarcoma with SS18-SSX rearrangement Cohort 3 (Closed for enrollment): Other INI1 negative tumors or any solid tumor with an EZH2 gain of function (GOF) mutation, including: epithelioid malignant peripheral nerve sheath tumor (EMPNST), extraskeletal myxoid chondrosarcoma (EMC), myoepithelial carcinoma, other INI1-negative malignant tumors with Sponsor approval (e.g., dedifferentiated chordoma) any...

 Brain and Spinal Cancers /  London

Posted 3 weeks ago by Wales Gene Park

Brief Summary This is a Phase II, multicenter, open-label, single arm, 2-stage study of tazemetostat 800 mg BID (twice daily) and 1600 mg QD (once daily). Subjects will be screened for eligibility within 21 days of the planned date of the first dose of tazemetostat and enrolled into one of 8 cohorts: Cohort using tazemetostat 800 mg BID Cohort 1 (Closed for enrollment): MRT, RTK, ATRT, and selected tumors with rhabdoid features, including small cell carcinoma of the ovary hypercalcemic type [SCCOHT], also known as malignant rhaboid tumor of the ovary [MRTO] Cohort 2 (Closed for enrollment): Relapsed or refractory synovial sarcoma with SS18-SSX rearrangement Cohort 3 (Closed for enrollment): Other INI1 negative tumors or any solid tumor with an EZH2 gain of function (GOF) mutation, including: epithelioid malignant peripheral nerve sheath tumor (EMPNST), extraskeletal myxoid chondrosarcoma (EMC), myoepithelial carcinoma, other INI1-negative malignant tumors with Sponsor approval (e.g., dedifferentiated chordoma)...

 Epithelial Sarcoma /  London

Posted 2 weeks ago by Wales Gene Park

Brief Summary The purpose of this study is to assess the safety, tolerability, and preliminary anti-tumor activity of experimental medication NZV930 alone and when combined with PDR001 and/or NIR178, in patients with advanced cancers: Non-small Cell Lung Cancer (NSCLC) Triple Negative Breast Cancer (TNBC) Pancreatic Ductal Adenocarcinoma (PDAC) Colorectal Cancer Microsatellite Stable (MSS) Ovarian CancerRenal Cell Carcinoma (RCC) Metastatic Castration Resistant Prostate Cancer (mCRPC)

 Oncology /  Sutton

Posted 2 years ago by Wales Gene Park

This study will evaluate the efficacy of VX-445 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are heterozygous for F508del and a minimal function mutation (F/MF subjects).

 Cystic Fibrosis /  Leeds

Posted 5 days ago by Wales Gene Park

Brief Summary This study (study ID PAC203 North America; PAC303 ex-North America) is evaluating 200 mg BID of pacritinib compared to physician's choice (P/C) therapy in patients with MF and severe thrombocytopenia (platelet count <50,000/μL). Approximately 348 patients in total will be enrolled, randomized 2:1 to either pacritinib (approximately 232 patients) or to P/C therapy (approximately 116 patients) Condition or disease: Primary Myelofibrosis/Post-Polycythemia Vera Myelofibrosis/ Post-essential Thrombocythemia Myelofibrosis Intervention/treatment: Drug-Pacritinib Detailed Description The study is a randomized, controlled phase 3 study comparing the efficacy of pacritinib with P/C therapy in patients with PMF, PPV-MF, or PET-MF (Dynamic International Prognostic Scoring System [DIPSS] risk score of Intermediate-1 to High-Risk), who have had had no or limited exposure to any JAK2 inhibitor or are JAK2 inhibitor-naive, and who have severe thrombocytopenia (platelet count <50,000/µL). This study was designed to use the pacritinib 200 mg BID dose, which was determined to be the...

 Essential Thrombocythemia /  London

Posted 6 months ago by Wales Gene Park

A Phase 2 open label study evaluating the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of AL001 in participants with a Granulin mutation or C9orf72 mutation causative of frontotemporal dementia.

 Behavioral Variant of Frontotemporal Dementia

Posted 3 weeks ago by Wales Gene Park

This study will evaluate the safety, tolerability, and efficacy of ABBV-3067 given alone and in combination with various doses of ABBV-2222 in adults with Cystic Fibrosis who are homozygous for the F508del mutation.

 Cystic Fibrosis /  Cardiff

Posted 2 years ago by Wales Gene Park

This is a long-term, multi-center, longitudinal, observational study in children with achondroplasia (ACH). The aim is to study height velocity and comorbidities in children with ACH. This is a natural history study and no study medication will be administered.

 Achondroplasia

Posted 3 weeks ago by Wales Gene Park

Detailed Description This is a multinational, open-label study to assess the safety and efficacy of FLT190 in up to 15 adult male participants with classical Fabry disease. Patients who provide consent to participate in this study will be screened for eligibility. Eligible patients will attend the study site on the day prior to infusion (Day -1) for a baseline visit. On Day 0, FLT190 will be administered as a single dose, slow intravenous infusion. Following FLT190 treatment the patient will be discharged from the investigational site and will continue to be monitored at outpatient visits for a period of 9 months; following which, the patient will enter a period of long-term follow-up conducted under a separate protocol. The study will be conducted in 2 parts; Part 1: Enrolment of previously treated patients (Dose escalation) Part 2: Enrolment of previously untreated patients (Dose expansion).

 Fabry Disease /  London

Posted 6 months ago by Wales Gene Park

The current national acute lymphoblastic leukaemia (ALL) trial in adults investigated whether a low (reduced) intensity chemotherapy regimen prior to transplant could improve the outcome of patients with ALL who are over 40 years of age. The results (60% 2 year survival) are very encouraging but patients who come to transplant with small amounts of 'residual' disease had less good outcomes. The goal of this trial is to see if a slightly stronger chemotherapy regimen (involving total body irradiation, (TBI)) can improve results by reducing the chance of the disease coming back (relapsing) without increasing the chance of not surviving the transplant. Up to 242 patients will be 'randomised' to the trial to receive either the established chemotherapy of fludarabine and melphalan or cyclophosphamide and TBI to compare the outcomes between the two treatment regimens. Other measures to reduce relapse will be the earlier use of donor white cell infusions...

 Acute lymphoblastic leukaemia (ALL)


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