Research Projects

Posted 3 weeks 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 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 2 years ago by Wales Gene Park

Opsoclonus myoclonus syndrome (OMS) is a rare disorder of the nervous system (incidence 1/5 million/year) with onset usually in the second year of life. It presents as jerky movements of the eye (opsoclonus) and body (myoclonus), with ataxia, irritability and sleep disturbance, and is associated with subsequent learning, movement and behavioural problems. About 50% of children with OMS have an underlying neuroblastoma and it seems likely that it is an immune-mediated, sometimes paraneoplastic, condition. Steroids, often supplemented with other immunosuppressants, are the primary treatment but there is limited evidence for drug choice and dosage and little knowledge of the relationship between early symptomatic response and later cognitive outcome. This study will examine drug response of OMS children, with and without NB. 100 children (15 from the UK), recruited over 3 years across 8 European countries, will be treated with an escalating 3-step schedule. All will receive a pulse of dexamethasone...

 Opsoclonus Myoclonus Syndrome /  Wales Wide

Posted 3 weeks ago by Wales Gene Park

The AML18 Trial will evaluate several relevant therapeutic questions in Acute Myeloid Leukaemia (AML), as defined by the WHO, and High Risk Myelodysplastic Syndrome. The trial is primarily designed for patients over 60 years considered fit for an intensive chemotherapeutic approach, but younger patients who may not be considered suitable for the concurrent NCRI AML Trial for younger patients may also enter. Patients for whom intensive chemotherapy is not thought suitable may enter the concurrent NCRI trial of less intensive therapy (LI1). Approximately 1600 patients will be recruited. At entry, a randomisation will compare a standard chemotherapy schedule DA (Daunorubicin/Ara-C) combined with 1 dose of Mylotarg (gemtuzumab ozogamicin, or GO) in course 1 against CPX-351. Patients who have known adverse risk cytogenetics (using Grimwade 2010 classification favourable/intermediate/adverse) at diagnosis may enter a Phase 2 evaluation of the combination of Vosaroxin plus Decitabine. Patients who achieve complete remission (CR) and who...

 Acute myeloid leukaemia /  University Hospital of Wales

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 3 weeks 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 2 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 2 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 2 years ago by Wales Gene Park

Cystic fibrosis (CF) is an inherited condition where the lungs and digestive system become clogged with mucus. Lung infection is common and needs to be treated aggressively with antibiotics even if it isn’t causing many symptoms. Doctors need to use different antibiotics for different types of infection. In order to identify which bacteria is causing the infection, the child is often asked to give a cough swab, so that a sample of their airway liquids can be sent to the lab to see if anything grows. Cough swabs are relatively easy to obtain but are not as good a test as bronchoscopy, where a fibre-optic camera is put down into the large airway of the lungs so that mucus samples can be taken directly from the lower airway. Obviously having a bronchoscopy is a much larger procedure than having a cough swab, but sometimes it is necessary. Some CF centres...

 Cystic Fibrosis /  University Hospital of Wales

Posted 2 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 2 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 3 weeks 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 3 weeks ago by Wales Gene Park

The purpose of this study is to compare the efficacy and safety of eflornithine in combination with lomustine, compared to lomustine taken alone, in treating patients whose anaplastic astrocytoma has recurred/progressed after radiation and temozolomide chemotherapy.

 Neurological Cancer

Posted 3 weeks ago by Wales Gene Park

A Phase 1/2a study to assess the safety, tolerability, PK and biological activity of CCS1477 in patients with Non-Hodgkin Lymphoma, Multiple Myeloma, Acute Myeloid Leukaemia or High Risk Myelodysplastic syndrome.

 Haematology /  University Hospital of Wales

Posted 3 weeks 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 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 3 weeks 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 3 weeks 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 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 years ago by Wales Gene Park

RUSH2A: Rate of Progression in USH2A Related Retinal Degeneration The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).

 Usher Syndrome /  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 2 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 2 years ago by Wales Gene Park

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

 Leber Hereditary Optic Neuropathy /  England

Posted 3 weeks 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 3 weeks 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 3 weeks 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 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 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 2 years ago by Wales Gene Park

A study looking at improving treatment for children and young people with medulloblastoma (PNET5 MB) 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...

 Classic medulloblastoma /  Cardiff

Posted 2 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 2 years ago by Wales Gene Park

Pustular psoriasis: eLucidating Underlying Mechanisms Pustular forms of psoriasis are characterised by painful, intensly inflamed, red skin studded with sterile pustules. The disease may be chronic and localised, typically to the hands and feet, or, more rarely, more generalised across the body and potentially life-threatening. Although pustular psoriasis accounts for less than 10% of psoriasis cases it consistently ranks highest among all variants in terms of symptoms and functional impairment. There is recent evidence, including work from our own group, to suggest that distinct underlying genetic and molecular pathways found in patients with pustular disease could be responsible for this particular disease presentation. The poor response to therapies used to great effect in other types of psoriasis may also be expla In PLUM we aim to identify and understand the genes that may have an influence on the development of pustular psoriasis, related immune pathways and responses to treatment. We...

 Generalized pustular psoriasis /  University Hospital of Wales

Posted 2 years ago by Wales Gene Park

 A trial looking at higher doses of chemoradiotherapy for people with locally advanced anal cancer (PLATO ACT5) Anal cancer is rare, but its incidence is rising rapidly. Approximately 1000 cases are diagnosed each year in the UK. Standard treatment usually involves a combination of chemotherapy and radiotherapy (chemoradiotherapy (CRT)). Often the same radiotherapy dose is given regardless of disease stage. Recent improvements in radiotherapy means altered doses can now be given to the tumour whilst sparing normal tissues. PLATO is an integrated protocol, comprising 3 separate trials (ACT3, ACT4 and ACT5) which aims to optimise radiotherapy dose for low-, intermediate- and high-risk disease. ACT5: a seamless randomised pilot, phase II and phase III trial that compares standard-dose CRT (53.2Gy in 28 fractions) with two higher doses of CRT (58.8Gy and 61.6Gy, both in 28 fractions), in patients with locally advanced anal cancer, to see if giving a higher dose of...

 Juvenile Anal Cancer /  Leeds

Posted 2 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 2 years ago by Wales Gene Park

PHAZAR: A phase Ib study to assess the safety and tolerability of oral Ruxolitinib in combination with 5-azacitidine in patients with advanced phase myeloproliferative neoplasms (MPN), including myelodysplastic syndromes (MDS) or acute myeloid leukaemia (AML) arising from MPN. Myeloproliferative Neoplasms (MPNs) are uncommon diseases that in some cases will progress to an acute leukaemia which is very difficult to treat. As this often happens to older people, most patients are unsuitable for bone marrow transplant therapy. There are few other treatment options for these patients and survival is only around 6 months. This trial will combine a treatment (ruxolitinib) that is effective at symptom control and may confer a survival advantage in myelofibrosis (an MPN) with azacitidine, a treatment that has proven activity in patients with some types of myelodysplastic syndrome and acute myeloid leukaemia. As these two treatments have not been used together before, the trial will consist of...

 Myelodysplasic Syndromes /  Cardiff University

Posted 3 weeks 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 3 weeks 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 3 weeks 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 9 months 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 2 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 2 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 3 weeks 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 years ago by Wales Gene Park

OPTIMA: A trial looking at a test to predict who might benefit from chemotherapy for breast cancer Chemotherapy and hormone treatment are currently offered to many people as part of their breast cancer treatment. This is to reduce the chance of the cancer coming back. Chemotherapy is given as an injection, usually every three weeks over a few months. Hormone therapy is a daily tablet taken for five to ten years. Younger women may also have a monthly injection to stop menstrual periods. Recently however it has been argued that chemotherapy may have little effect on the subtype of breast cancer that is broadly identified as being hormonally responsive without HER2 gene amplification/HER2 protein overexpression and with a low or intermediate grade. Recent research indicates that some people with this subtype of breast cancer may not benefit from chemotherapy, and would do just as well with hormone treatment alone. The...

 Breast Cancer /  Wales Wide

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 2 years ago by Wales Gene Park

Randomised phase II Trial of olaparib, chemotherapy or olaparib and cediranib in patients with BRCA mutated platinum–resistant ovarian cancer Women with platinum resistant ovarian cancer (OC) have limited responses to standard therapy, and clinical trials with novel agents are therefore highly justified. Olaparib is a potent PARP inhibitor that has shown enhanced activity in women with relapsed BRCA-mutated OC in both platinum sensitive and resistant settings. Angiogenesis inhibitors, such as the oral tyrosine kinase inhibitor cediranib, are active in OC, and have shown additive effects when combined with PARP inhibitors preclinically, as hypoxia-induced downregulation of homologous recombination repair genes, BRCA1, 2 and RAD51 enhances PARP inhibitor sensitivity. Recent phase 2 trials in relapsed platinum-sensitive OC have also shown benefit from the combination of olaparib and cediranib compared to olaparib alone. The OCTOVA trial investigates the benefit of single agent olaparib compared to olaparib and cediranib or weekly paclitaxel in women...

 Familial ovarian cancer /  Velindre Cancer Centre

Posted 9 months 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 2 years ago by Wales Gene Park

National Institute for Health Research (NIHR) BioResource is a panel of thousands of volunteers, both with and without health problems, who are willing to be approached to participate in research studies investigating the links between genes, the environment and health and disease.

 Non-specific Rare disease/Undiagnosed /  England

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

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 2 years ago by Wales Gene Park

The NIHR BioResource – Rare Diseases has been established to identify genetic causes of rare diseases, improve rates of diagnosis and to enable studies to develop and validate treatments; thus improving care for those with rare diseases and their families.

 Non-Specific Genetics /  Cambridge

Posted 3 weeks 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 3 weeks 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 2 years ago by Wales Gene Park

The Investigator proposes to record the fetal and postnatal development of children conceived using Mitochondrial Donation (MD) and to perform expert assessment of development at 18 months (corrected for gestational age) using the internationally validated Bayley-III developmental assessment tool. To record the fetal and postnatal development of children conceived using Mitochondrial Donation and to perform internationally validated Bayley-III developmental assessment tool at 18 months (corrected for gestational age). The null hypothesis for this research is that children born following the use of Mitochondrial Donation (IVF) techniques have normal neurodevelopment developmental outcomes at 18 months.

 Mitochondrial Diseases /  England

Posted 3 weeks 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

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 2 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 3 weeks 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 3 weeks 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 2 years ago by Wales Gene Park

A trial looking at lenvatinib and pembrolizumab for people with advanced solid tumours (LEAP-005) This trial is for people with one of the following solid tumours : breast cancer whose cells don’t have receptors for the protein Her2 and the hormones oestrogen and progesterone (triple negative breast cancer) ovarian cancer stomach cancer bowel cancer a type of brain tumour called glioblastoma multiforme (GBM) bile duct cancer gallbladder cancer It is for people whose cancer continued to grow or spread to other parts of the body despite treatment (advanced solid tumours). The main aims of this trial are to: find out how well lenvatinib and pembrolizumab work as a treatment for advanced solid tumours learn more about the side effects

 Rare Cancers (non-specific) /  London

Posted 2 years ago by Wales Gene Park

A study looking at pembrolizumab for children and teenagers with a solid tumour or lymphoma This study is looking at a drug called pembrolizumab for children and teenagers who have advanced melanoma or certain other types of solid tumour or lymphoma. This study is for children who are at least 6 months old but haven’t yet reached their 18th birthday. We use the term ‘you’ in this summary, but if you are a parent, we are referring to your child.

 Haematological Cancer /  London

Posted 3 weeks 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 2 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 3 weeks 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

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 3 weeks 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 2 years ago by Wales Gene Park

Dementia is one of the major health issues facing medicine today, with an increasing number of patients due to a steadily ageing population. Much of what we know about the molecular basis of the various forms of dementia is due to studying rare inherited forms, caused by abnormalities (mutations) in the genes coding for several proteins, including the amyloid precursor protein, Presenilin 1 and 2, progranulin and tau. A major research issue when studying these disorders has been the lack of a valid cell model faithfully replicating the human disease. Recent advances in stem cell technology provide a method with which to develop novel, patientderived cell models for neuronal dysfunction in the dementias. We can take skin biopsies (fibroblasts) from patients who carry dementiacausing mutations and use a combination of factors to cause them to become stem cells. These induced pluripotent stem cells (iPS cells) can then be differentiated into...

 Late onset familial alzheimer's disease

Posted 3 weeks ago by Wales Gene Park

The SMA REACH UK Network is a national and international partnership between doctors and therapists involved in the care of children and adults with Spinal Muscular Atrophy. This network is supported by Biogen and SMA UK.

 Skeletal

Posted 2 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 2 years ago by Wales Gene Park

HumGenDisMolecular pathology of human genetic disease There are many different arms to this study, each one looking at separate conditions. We need to investigate the genes/genetic factors of many individuals/families with exactly the same condition. The cells in your blood carry a complete set of your genetic material (genes), which we can study. We would like to better understand the gene(s)/genetic factors that may be the cause of the condition in you/your family.

 Tumour Disorders

Posted 2 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 2 years ago by Wales Gene Park

There are numerous rare (ie less than 1:2000) lichenoid and scarring skin disorders that may affect skin, oral cavity, genitalia, scalp, hair or nails. Depending on the nature of the area involved, the disease may present with intensely itchy or sore inflamed areas and may lead to scarring, onychodystrophy or alopecia. The management of rare lichenoid and scarring skin disorders and rare alopecias is invariably challenging and the prognosis is highly variable. Rare diseases are generally understudied and poorly understood and current treatment strategies are generally inadequate. There is ample evidence that there is an unexplored genetic component underlying many rare skin disorders and this study aims to identify genetic mutations associated with rare forms of lichenoid inflammation, scarring and alopecia and correlate these with the observable clinical characteristics.

 rare lichenoid and scarring dermatoses and rare alopecias /  London

Posted 2 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 2 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 3 weeks 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 2 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 2 years ago by Wales Gene Park

Feeding and Autoimmunity in Down's syndrome Evaluation Study (FADES) Children with Down's Syndrome (DS) have an increased risk of autoimmune conditions where the body's immune system attacks its own cells, such as thyroid problems, diabetes and coeliac disease. There is some evidence that prolonged breastfeeding protects against diabetes and coeliac disease. We think that in infants with DS early feeding practices may be related to the development of autoimmunity. Children with DS may have difficulties with breastfeeding, leading to rapid introduction of formula feeds. We aim to study the association between early infant feeding, infections and the development of autoimmunity.

 Down syndrome

Posted 3 weeks 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 2 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 2 years ago by Wales Gene Park

EMBRACE: Epidemiological study of BRCA1 and BRCA2 mutation carriers This study collects information about people who have inherited faulty breast cancer genes. A small number of men and women have inherited faulty genes which means that they at an increased risk of developing certain cancers. Two of these genes are called BRCA1 and BRCA2. When someone has a fault in these genes they are more likely to develop cancers of the breast, ovary or prostate. The EMBRACE study, which stands for Epidemiological Study of Familial Breast Cancer, aims to create a register of families who have a fault in these genes. The people taking part will be asked to fill in a questionnaire and to give a small sample of blood, which will be looked at in a laboratory. With this information they hope to find out How many people go on to develop cancer What other factors may play a part...

 BRCA1 and BRCA2 /  Cardiff

Posted 3 weeks 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 3 weeks 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 years ago by Wales Gene Park

The DOMINO-HD study (Multi-Domain Lifestyle Targets for Improving ProgNOsis) is exploring how digital technologies, such as wearable fitness trackers, can be used to support people with Huntington’s disease (HD). Huntington’s disease (HD) is an inherited neurological condition that causes difficulties with movement and coordination. It also causes cognitive impairment that gets worse over time. Symptoms usually develop when people are between 30 and 50 years old and dementia can occur at any stage of the condition. There are currently no treatments for the condition. Current research suggests strong potential for improving quality of life for those living with neurodegenerative diseases, such as HD, with novel health and social care concepts, and innovations focusing on the preservation of dignity, independence and social inclusion. However, the availability and quality of such services vary considerably across Europe and beyond. The programme seeking to improve quality of life for people with Huntington’s disease. Huntington’s is a...

 Huntington's Disease /  Cardiff University

Posted 2 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 2 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 2 years ago by Wales Gene Park

We propose to study a group of genetic conditions, called RAS¬MAPK pathway disorders, in which high rates of congenital abnormalities, learning difficulties, short stature and other health and developmental problems occur (including childhood tumours). The incidence of these various problems is not yet fully known in the different conditions. This study seeks to find out how common these different features are across the conditions. Changes in many different genes cause these disorders. The proteins that these genes code for all work together in a biochemical pathway, called the RAS¬MAPK pathway. We will examine what particular problems are associated with particular changes (mutations) in each of the genes. Some patients with these conditions do not currently have a known genetic reason for their condition, and we shall seek to identify new genes for these conditions. To do this, a group of patients will be studied, and blood and, where available, other...

 RAS-MAPK pathway /  Cardiff University

Posted 2 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 2 years ago by Wales Gene Park

Neuroimaging and Cognition in Rolandic Epilepsy (CREME) Neuroimaging and neuropsychological methods will be used to investigate the structure and function of brains in children with Rolandic epilepsy. The information will be compared to brains in healthy children. This will be repeated once their seizures have stopped.

 Non-specific Rare disease/Undiagnosed /  London

Posted 2 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 2 years ago by Wales Gene Park

A study looking at functional imaging to help diagnose and treat children and young people with solid tumours This study is looking at functional imaging, using a range of scanning techniques to help diagnose, treat and understand more about solid tumours in children and young people. This study is for children and young people up to their 25th birthday at diagnosis.

 Paediatric Cancers /  England

Posted 2 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 2 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 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. The study will record how the disorders present, all...

 Myelodysplasic Syndromes

Posted 2 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 2 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 2 years ago by Wales Gene Park

BRAGGSS- Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate

 Genetics /  Manchester

Posted 2 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 2 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 2 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 /  England

Posted 2 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 3 weeks 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 2 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 2 years ago by Wales Gene Park

UK-PSC is a collaborative venture between NHS Trusts across the UK, researchers and patient groups aimed at improving our understanding of PSC and the way it impacts on the lives of patients. People of all ages (including children) with PSC are encouraged to join.

 Primary Sclerosing Cholangitis /  Wales Wide

Posted 2 years ago by Wales Gene Park

Some gliomas have a change (mutation ) in the BRAF gene called BRAF V600. The BRAF gene makes a protein that affects how cancers grow and divide. Dabrafenib and trametinib are targeted drugs. They work by blocking the action of the BRAF protein so possibly stopping the cancer growing or spreading. We know that the combination of dabrafenib and trametinib works for other cancers that have the BRAF V600 change. Researchers think it could help children and young people whose glioma has the BRAF V600 change. In this trial everyone who has a fast growing glioma will have dabrafenib and trametinib. Everyone who has a slow growing glioma will have either: dabrafenib and trametinib or carboplatin and vincristine (standard treatment ) The aims of this trial are to find: how well dabrafenib and trametinib works for children and young people with a glioma how dabrafenib and trametinib works in the...

 Diffuse intrinsic pontine glioma /  London

Posted 2 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 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

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 2 years ago by Wales Gene Park

This study will evaluate the efficacy, safety, and biomarker effects of RO7234292 (RG6042) compared with placebo in patients with manifest Huntington's disease (HD).

 Huntington's Disease /  Cardiff

Posted 3 weeks 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 2 years ago by Wales Gene Park

This study is looking at blood samples to find out more about the genetic causes of kidney cancer. There are many risk factors associated with developing renal cell carcinoma (RCC). This is the most common form of kidney cancer. There are some faulty genes and inherited conditions that increase risk. This study is looking at people who may have an inherited genetic fault or medical condition that increases their risk of developing RCC. The aim of the study is to find out more about the genetic causes of RCC, and more about how gene faults may increase risk.

 Rare Kidney Cancers /  England

Posted 2 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 2 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 2 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 3 weeks 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 2 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 2 years ago by Wales Gene Park

The immune system is complex and involves many chemicals, including type I interferon. The system must be finely balanced as too much interferon can itself cause ill health. Indeed, a change in one of several different genes can cause too much interferon to be produced. The problems that occur due to this differ depending upon which gene is changed, but can include problems with the brain, skin, lungs or bones. These conditions are called type I interferonopathies. For this study we are looking to collect detailed information about the long-term effects of having one of these types of conditions. We hope that by gaining more information about how these types of conditions develop, we will be able to provide better counselling for patients who have been diagnosed and also to design better treatments in the future. We will be approaching patients in 2 ways: New patients that present to their...

 Type I interferonopathies /  Cardiff University

Posted 2 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 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 3 weeks 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 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

This study is part of a series of projects to develop and test new vaccines for meningitis. Previously researchers have given nose drops containing N. lactamica to over 350 volunteers, and shown that many of them (35-60%) can become colonised with N. lactamica and become resistant to becoming colonised with N.meningitidis without causing any illness or disease. In the future the study team would like to find out how N.lactamica helps children resist N.meningitidis, and develop new vaccines that exploit that mechanism.

 Bacterial Meningitis /  Southampton

Posted 3 weeks 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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