Listings

Posted 10 months 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 10 months 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 10 months ago by Wales Gene Park

There is a relationship between aerobic fitness and survival both with and without surgery. Some patients can improve their aerobic fitness with a structured exercise programme but currently it is not know how much this could change predicted survival for patients with an abdominal aortic aneurysm, or how long this change can be maintained. Survival can be predicted after planned abdominal aortic aneurysm (AAA) surgery using physical fitness measured with a cardiopulmonary exercise test. The researchers have validated this in a published peer reviewed multicentre study. In this study the patient's fitness will be measured before and after a structured exercise programme and assess if there is any change in their predicted survival. The primary objective of the study is to measure the change in predicted survival for abdominal aortic aneurysm surgery after a structured exercise programme. In addition the patients are asked to complete the following questionnaires:- EQ-5D-5L, Hospital...

 Familial abdominal aortic aneurysm /  England

Posted 10 months 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 11 months 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 11 months 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 11 months ago by Wales Gene Park

The purpose of the study is to determine the effect of setmelanotide (RM-493) on weight, hunger assessments and other factors in patients with rare genetic disorders of obesity, including POMC deficiency, LepR deficiency, Bardet-Biedl syndrome and Alström syndrome.

 Bardet-Biedl Syndrome /  England

Posted 11 months ago by Wales Gene Park

This cohort study (participants with CMT and control participants) has two parts (Part 1: CMT1A cohort; Part2: CMT1B, CMT2A and CMTX1 cohort) and is proposed to take place over 3 years across three sites. Participants with CMT aged 5-60 for potential enrolment in the trial will be identified through the existing inherited neuropathy clinics at each site and control participants will be identified among the unaffected relatives and carers of the participants with CMT. If they show interest in participating, they will be given the relevant Patient Information Sheets, Written Consent forms and/or Assent forms. Half of the participants will be recruited at the UK sites (NHNN and GOSH) and the other half at the US collaborating site. Each participant will be invited to two separate research visits (12 months apart) for which travel expenses (return journey) will be reimbursed. Each research visit is expected to last approximately 3 hours...

 Charcot-Marie-Tooth Disease /  London

Posted 11 months ago by Wales Gene Park

An observational, non-interventional registry study to collect real-world data from people living with Charcot-Marie-Tooth disease (CMT) and its treatment, which will be available to researchers to further the knowledge of Charcot-Marie-Tooth disease and improve patient care. The registry uses Vitaccess' MyRealWorld™ digital real-world evidence platform and has been developed in collaboration with CMT experts, Patient Advocacy Organizations (PAOs) and the biopharmaceutical company Pharnext. Eligible participants install a study app on their smartphone. Researchers access aggregated, anonymised data via a cloud-based research portal. The platform provides benefits to participants, which it is hoped will encourage persistence with data submission; these include options to upload electronic documents such as scans, a clinically-validated Knowledge feature, and access an online CMT community. The aggregated data are available in close to real time via "dashboards" and can be analysed according to a number of pre-set criteria (e.g. disease stage, age, geographic location). State-of-the-art technologies and...

 Charcot-Marie-Tooth Disease /  Oxford

Posted 11 months ago by Wales Gene Park

CAEB1102-300A is a multi-center randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of pegzilarginase in patients with ARG1-D. This study will consist of a screening period; a randomized, double-blind treatment period; a long-term extension; and a follow up visit for final safety assessments. CAEB1102-300A is a multi-center randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of pegzilarginase in patients with ARG1-D. This study will consist of a screening period; a randomized, double-blind treatment period; a long-term extension; and a follow up visit for final safety assessments. Subjects will be randomized to treatment following completion of all screening assessments and confirmation of study eligibility in a 2:1 ratio to receive weekly IV infusions of pegzilarginase plus individualized disease management (IDM) or placebo plus IDM during the 24-week double blind treatment period. After completion of the 24-week double-blind treatment period, each subject will enter the long term, open-label...

 Hyperargininemia /  University Hospital of Wales

Posted 11 months ago by Wales Gene Park

To evaluate the efficacy of cannabidiol oral solution (GWP42003-P, CBD-OS) in reducing symptom severity when compared with placebo, in patients with Rett syndrome.

 Rett syndrome /  London

Posted 11 months ago by Wales Gene Park

The study participants are patients which have been diagnosed with Guillain-Barré Syndrome (GBS) and are planned to receive treatment with intravenous immunoglobulin (IVIg). IVIg is a standard of care treatment for GBS patients. The patients in this study will be treated with the study medicine imlifidase on day 1, and with IVIg on days 3-7. The purpose of this study is to investigate the safety and effectiveness of imlifidase in patients diagnosed with GBS. This is an open-label, single arm, multi-centre, phase II study of imlifidase in combination with standard care IVIg in patients with GBS. The study will recruit up to 30 patients who are eligible for IVIg treatment based on current practice (i.e. GBS disability score >3 and within 10 days of onset of weakness). All patients will receive imlifidase (Day 1) prior to standard care IVIg. Data from each patient enrolled in this study will be compared...

 Guillain-Barré Syndrome

Posted 11 months ago by Wales Gene Park

International GBS Outcome Study (IGOS) is a study conducted by the members of the Inflammatory Neuropathy Consortium (INC) and Peripheral Nerve Society (PNS) on disease course and outcome in Guillain-Barré syndrome (GBS). The IGOS aims to identify clinical and biological determinants and predictors of disease course and outcome in individual patients with Guillain-Barré syndrome, as early as possible after onset of disease. GBS is a post-infectious immune-mediated polyradiculoneuropathy with a highly diverse clinical course and outcome despite partially effective forms of treatment(immunoglobulins and plasma exchange). Outcome in patients with GBS has not improved in the last two decades. At present about 10 to 20% of patients remain severely disabled and about 5% die. One explanation for this stagnation is the highly variable clinical course of GBS and the lack of knowledge about the factors that determine the clinical course in individual patients with GBS. GBS may consist of distinct pathogenic...

 Guillain-Barré Syndrome /  England

Posted 11 months 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 11 months 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 11 months 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 11 months ago by Wales Gene Park

Mitochondria are tiny cell structures that play a critical role in the production of energy by the cell. When these tiny energy producing cell structures malfunction, it may result in chronic illnesses known as mitochondrial diseases. It is estimated that mitochondrial disease can affect up to 15,000 adults (and a similar numbers of children) in the UK. Mitochondrial diseases are rare, inherited conditions where muscle symptoms such as muscle weakness, tiredness and pain are extremely common and often draining. The study has been designed with the help of patients and carers who identified muscle symptoms to be the most important target for any new drug treatments. We plan to test a drug (acipimox) which has previously been used to treat high cholesterol and improve diabetic control. The drug has also been shown to boost production of cell energy by muscle cells and it is this role that we wish to...

 Mitochondrial Diseases /  England

Posted 11 months 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 11 months 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 11 months ago by Wales Gene Park

This is a randomised controlled cross-over trial involving adult cystic fibrosis (CF) patients from the Royal Brompton Hospital, London investigating outcome measures used in airway clearance trials. Each participant will attend the research facility for two visits. Participants will be randomly assigned to the order that they perform the study sessions. Visit A will involve a period of rest for up to 60 minutes in-between assessments; Visit B will involve a session of airway clearance (ACT) utilising ACBT supervised by a specialist physiotherapist in adult CF. Participants will perform the outcome measure (OM) tests of impulse oscillation system (IOS), lung clearance index (LCI), and spirometry, then either rest (visit A) or perform a supervised ACBT session (visit B) using electronic impedance tomography (EIT) during the session. IOS, LCI and spirometry will be repeated after the session. Sputum will be collected throughout the ACT or rest sessions and for 30 minutes...

 Cystic Fibrosis /  London

Posted 11 months ago by Wales Gene Park

HDClarity: a Multi-site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development for Huntington's Disease HDClarity will seek at least 1200 research participants at different stages of Huntington's disease (HD). The primary objective is to collect a high quality CSF sample for evaluation of biomarkers and pathways that will enable the development of novel treatments for HD. The secondary objective is to generate a high quality plasma sample collection matching the CSF collections, which will also be used to evaluate biomarkers and pathways of relevance to HD research and development. All participants will attend a screening and sampling visit. During the screening visit, medical history, and clinical and phenotypic data will be obtained. Participants who meet the eligibility requirements are willing to continue in the study, will return for a sampling visit during which ≤20ml CSF and approximately 50ml blood will be collected following an overnight fast: blood will be obtained...

 Huntington's Disease

Posted 11 months 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 11 months 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 11 months ago by Wales Gene Park

Exercise has been found to help children and young people with cystic fibrosis (CF) but many people find it difficult to keep going. This research is finding out what children and young people with cystic fibrosis think and feel about exercise, and how much exercise they are doing. Then the researchers want to make a tool (a way of measuring something, like a questionnaire) that may help identify how to optimise and maintain healthy activity levels for individual children and young people with CF in the future.

 Cystic Fibrosis /  London

Posted 11 months ago by Wales Gene Park

The Multiple breath washout (MBW) test has been established for more than 60 years, but it is not used as frequently used as spirometry, the gold standard of lung function testing. Lung clearance index (LCI) is a result gained from MBW that tells us how clear someone's airways are. With the improvement of care, many patients now have normal spirometry and so more sensitive markers/outcome measures of disease severity are required to continue to monitor disease and prevent further disease deterioration. Whilst MBW is established as a tool many discrepancies and unknowns still exist, limiting its standardised widespread use. These factors are, differences in equipment, what normal variation and repeatability are, who will benefit the most from utilisation of this test and how well LCI relates to other measures of respiratory disease. This study aims to address these questions.

 Cystic Fibrosis /  London

Posted 11 months 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 11 months ago by Wales Gene Park

The purpose of this study is to evaluate the effect of ARO-AAT Injection (also referred to as ARO-AAT) on a histological liver disease activity scale in participants with AAT-associated liver disease over time. Participants will receive multiple subcutaneous doses of ARO-AAT.

 Alpha 1-Antitrypsin Deficiency /  England

Posted 11 months 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 11 months 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 12 months ago by Wales Gene Park

Exercise is an important part of treatment in CF, having been shown to slow down the lung disease and improve quality of life. Patients with CF are encouraged to exercise both at home and during hospital admissions, even when the lung disease is advanced. Often, oxygen therapy is used in patients whose oxygen levels are otherwise too low during. This, however, does not improve their breathlessness. Recently, a device to deliver air at flows higher than what other device allow has become available. High flow nasal therapy (HFNT) provides patients with air or a blend of air and oxygen at flows up to 60 L/min. HFNT can improve oxygen levels and reduce shortness of breath in many situations both in the acute and chronic setting. HFNT was shown to improve the tolerance to exercise in patients with other respiratory conditions (chronic obstructive pulmonary disease). In CF, HFNT is routinely used...

 Cystic Fibrosis /  Leeds

Posted 12 months 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 12 months ago by Wales Gene Park

The overall aim of the study is to determine the feasibility of conducting a randomised controlled trial (RCT) studying the effectiveness of physiotherapy intervention (virtual training) in children with ataxia following surgical resection of posterior fossa tumour Brain tumours are the most common group of solid tumours in children accounting for nearly a quarter of all childhood cancers. There are approximately 500 new cases of central nervous system (CNS) tumours in children/adolescents reported in the UK per year. Although prognosis has improved over the last 30 years, brain tumours remain the leading cause of tumour-associated death in children. Surgical resection is a mainstay of management of children with brain tumours, as for several tumour types there is strong evidence that survival and progression free survival are influenced by the degree of resection. Therefore extensive tumour removal is an operative goal, but the morbidity of surgery along with any subsequent oncological...

 Ataxia /  Liverpool

Posted 12 months ago by Wales Gene Park

LUCID: A study looking at breath samples to find out if these can help to diagnose lung cancer This study is for people who have been referred for tests because they might have lung cancer. Researchers would like to develop a test to pick up lung cancer at an earlier stage. This way, more people could have a chance of successful treatment. Research has shown that cells inside the body make substances that end up in the lungs. These substances are then breathed out. Researchers think that the substances may be different if a person has lung cancer. This study will look at biomarkers in a person’s breath. Biomarkers are substances in the body that can be measured. Some biomarkers can help doctors to diagnose cancer, predict whether a treatment will work and show whether treatment is working. The aims of this study are to learn more about the different biomarkers in breath...

 Small cell lung cancer /  England

Posted 12 months 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 12 months ago by Wales Gene Park

PROGENOM: A study to understand more about an eye cancer called uveal melanoma This study is gathering information from blood and tissue samples, which may help to predict outlook (prognosis) and identify new treatments for people with uveal melanoma.

 uveal melanoma /  Liverpool

Posted 12 months 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 12 months 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 12 months 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 12 months ago by Wales Gene Park

AUTO4-TL1: A trial of CAR T-cell for people with T cell lymphoma Researchers are looking at new ways to help people with relapsed or refractory T cell lymphoma. In this trial, they are looking at a new treatment called CAR T-cell. CAR T-cell treatment uses the T cells from your immune system. These cells are good at helping us fight infections, but they aren’t so good at recognising lymphoma cells. With this treatment, doctors collect your T cells and change them in the laboratory so that they recognise and attack the lymphoma cells that have the TRBC1 protein. These altered T cells are called AUTO4. This trial is in 2 parts. In part 1 doctors are looking for the best dose of AUTO4. This part is called dose escalation. In part 2, they will collect information about how well the treatment works. This is the dose expansion part.

 Non-Hodgkin lymphoma /  England

Posted 1 year 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 1 year ago by Wales Gene Park

This trial is looking at a new treatment using anti-GD2 T-cells. The researchers are taking immune cells from the blood and changing them so they can attack the cancer cells. Cancer Research UK is supporting this trial. The aims of the trial are to find out: if they can make anti-GD2 T-cells in the laboratory and if it is safe to give to people about any side effects and the best way to treat them whether giving chemotherapy first, improves how long the anti-GD2 T-cells survive and helps to increase their number how well and for how long the anti-GD2 T-cells survive inside the body whether anti-GD2 T-cells can shrink the neuroblastoma

 Neuroblastoma /  London

Posted 1 year 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 1 year ago by Wales Gene Park

This trial is looking at a new vaccine made by altering people’s own donated leukaemia cells and injecting them back to trigger their immune system. You have the vaccine with the standard treatment of having white blood cells through a drip into a vein.

 Acute myeloid leukaemia /  London

Posted 1 year ago by Wales Gene Park

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

 Leber Hereditary Optic Neuropathy /  England

Posted 1 year ago by Wales Gene Park

A trial of nivolumab for Hodgkin lymphoma This trial is looking at whether nivolumab can improve treatment before a stem cell transplant for people with Hodgkin lymphoma.

 Classic Hodgkin lymphoma /  England

Posted 1 year ago by Wales Gene Park

A trial looking at ibrutinib and standard treatment for children and young adults with B cell non-Hodgkin lymphoma This trial is for children and teenagers with a type of acute lymphoblastic leukaemia called pre cursor B cell ALL that has come back after initial treatment.

 Paediatric Cancers /  England

Posted 1 year 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 1 year ago by Wales Gene Park

This study is looking at scans, blood tests and lung fluid tests to improve diagnosis for people with fluid in the lung lining (pleural effusion), or thickening of the lung lining.

 mesothelioma /  Bristol

Posted 1 year 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 1 year ago by Wales Gene Park

Tuberous sclerosis (TSC) is a rare, genetic condition that causes benign growths to occur in various body organs, particularly the brain, skin, kidney and heart. Other features of tuberous sclerosis include kidney (renal) cysts, seizures and intellectual impairment. Two causative genes have been identified, TSC1 and TSC2. Adjacent to TSC2 on chromosome 16, lies the gene PKD1. This gene is responsible for 85% of Autosomal Dominant Polycystic Kidney Disease, a genetic condition that causes multiple renal cysts to occur, usually in adulthood. Renal cysts are a well recognised feature of tuberous sclerosis. There is a small subgroup of patients with tuberous sclerosis who have a more severe form of renal cystic disease, often with early or congenital onset. A gene deletion involving both TSC2 and PKD1 was described in 1994, known as the TSC2/PKD1 contiguous gene deletion syndrome. Little is known about the natural history of TSC2/PKD1 contiguous gene deletion...

 Tuberous Sclerosis Complex /  Cardiff

Posted 1 year ago by Wales Gene Park

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

 Urological Cancers /  Cardiff

Posted 1 year 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 1 year 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 1 year ago by Wales Gene Park

Researchers are looking at new ways to treat cancer. An area that they are looking at is personalised therapy. Cancer cells have changes in their genes (DNA) that make them different from normal cells. These changes mean that they behave differently. It can also make one person’s cancer different to another’s. A technique called genomic profiling can scan the genes of the cancer and identify those changes. Doctors hope they can match a treatment to your individual cancer. The main aim of this trial is to find out whether personalised therapy is better than chemotherapy for people with CUP.

 Rare Cancers (non-specific) /  Cardiff

Posted 1 year ago by Wales Gene Park

The UKALL14 trial is looking at different treatments for ALL. The team would now like to do a sub study to find out more about the genes of the leukaemic cells. They also want to find out more about whether they can predict how well treatment will work based on these changes. In this study you have the standard chemotherapy treatment for ALL at your hospital. The study team will ask for small amount of your bone marrow sample  that is taken before starting your treatment. They are looking for a substance (biomarker ) in the sample they can use to follow how well your leukaemia responds to treatment. They are also looking for any gene changes in the cells of your leukaemia.

 Acute lymphoblastic leukaemia (ALL) /  Wales Wide

Posted 1 year 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 1 year ago by Wales Gene Park

Looking at circulating tumour cells in the blood will help researchers learn more about why treatment works better in some women than others and about how cancer spreads. The aims of this study are to find out •If cancer cells in the blood can be easily detected and counted •More about breast cancer, to help improve treatment in the future •More about how breast cancer spreads You will not have any direct benefit from taking part in this study, and it is unlikely to change your treatment plan in any way. But the results of the study will be used to help women in the future.

 Hereditary breast cancer /  London

Posted 1 year 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 1 year 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 1 year 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 1 year ago by Wales Gene Park

MICROBIOME- A study of MRx0518 before surgery for solid tumours This study is looking at a new treatment called MRx0518 for solid tumours.

 Rare Cancers (non-specific) /  London

Posted 1 year 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 1 year 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 1 year 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 1 year ago by Wales Gene Park

ABC-07: A trial looking at stereotactic body radiotherapy and chemotherapy for people with locally advanced bile duct cancer The purpose of the ABC-07 trial is examine whether adding radiotherapy called Stereotactic Body Radiotherapy (SBRT) to chemotherapy will improve the outcome for patients with locally advanced biliary tract cancer that are unfit for surgery. All patients will receive 6 cycles of chemotherapy and then they will receive either 5 fractions of SBRT or 2 more cycles of chemotherapy depending on which treatment they are randomised to. Initially we plan to undertake a feasibility phase to see if it is possible to recruit patients into the trial and then we will continue with the randomised phase II study. Patients recruited during this feasibility stage will be included in the analysis of the full randomised phase II study.

 Fibrillary astrocytoma /  Cardiff

Posted 1 year ago by Wales Gene Park

Biological Medicine for Diffuse Intrinsic Pontine Glioma (DIPG) Eradication(Biomede) Biomede is an international, multicenter, randomised, open-label, adaptive, phase II trial of treatment for Diffuse Intrinsic Pontine Glioma (DIPG). This trial mandates a biopsy of the tumour to obtain the biological profile of the tumour. The allocation of treatment in each patient will be based on the specific biological tumour profile. Recruitment target is 80 patients in the UK, 250 in the EU with DIPG over 4 years. The initial agents to be studied based on biomarkers profile are; Dasatinib, Erlotinib and Everolimus as single agents combined with standard radiotherapy.

 Diffuse intrinsic pontine glioma /  London

Posted 1 year 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 1 year 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 1 year ago by Wales Gene Park

BRAGGSS- Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate

 Genetics /  Manchester

Posted 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year ago by Wales Gene Park

 A phase III double-blind placebo-controlled randomised trial assessing the effects of aspirin on disease recurrence and survival after primary therapy in common nonmetastatic solid tumours.  

 Oncology /  London

Posted 1 year 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 1 year ago by Wales Gene Park

A trial looking at treatment for children and young adults with an ependymoma This trial is looking at chemotherapy and extra doses of radiotherapy after surgery to treat ependymoma. It is open to children and young adults with an ependymoma that hasn’t been completely removed by surgery. Cancer Research UK supports this trial. There are 2 parts to this trial. In the 1st part the trial committee looks at the results of your tests and scans. The 2nd part is looking at treatment pathways. There are 3 treatment pathways in this trial. This information is about pathway 2. We have information on pathway 1 and pathway 3. The aims of this trial are to find How well vincristine, etoposide, cyclophosphamide and high dose methotrexate works to treat ependymoma How safe the combination is What are the side effects of this combination How safe it is give 2 more doses of...

 Ependymoma (on the brain) /  England

Posted 1 year ago by Wales Gene Park

This trial is looking at treating ependymoma with chemotherapy after surgery and radiotherapy. It is open to children and young adults whose ependymoma has been completely removed by surgery. Cancer Research UK supports this trial. There are 2 parts to this trial. In the 1st part the trial committee looks at the results of your tests and scans. The 2nd part is looking at treatment pathways. There are 3 treatment pathways in this trial. This information is about pathway 1. We also have information on pathway 2 and pathway 3. The aims of this trial are to find out how well chemotherapy after surgery and radiotherapy works to stop ependymoma coming back about the side effects of having chemotherapy after surgery and radiotherapy how safe it is to give chemotherapy after surgery and radiotherapy

 Ependymoma (on the brain) /  England

Posted 1 year 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 1 year 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 1 year ago by Wales Gene Park

Ependymoma is a type of brain tumour that mostly affects children and young people. We use the term ‘you’ in this summary, but if you are a parent, we are referring to your child. Doctors usually treat ependymoma by removing it with surgery. After surgery if you can’t have radiotherapy you have chemotherapy instead. In this pathway researchers want to find out if adding a drug called valproic acid to chemotherapy improves treatment. Valproic acid is a drug that blocks substances (enzymes ) in the body called histone deacetylases (pronounced dee-as-et-isle-azes). Cells need these to grow and divide. Blocking them may stop cancer growing. Drugs that block these enzymes are called histone deacetylase inhibitors or HDAC inhibitors. We know from research that valproic acid can help people with other types of brain tumours. The aims of this pathway are to find how well chemotherapy with valproic acid works for young...

 Ependymoma (on the brain) /  Cardiff

Posted 1 year ago by Wales Gene Park

This trial is looking at treating ependymoma with chemotherapy after surgery and radiotherapy. It is open to children and young adults whose ependymoma has been completely removed by surgery. Cancer Research UK supports this trial. There are 2 parts to this trial. In the 1st part the trial committee looks at the results of your tests and scans. The 2nd part is looking at treatment pathways. There are 3 treatment pathways in this trial. This information is about pathway 1. We also have information on pathway 2 and pathway 3.

 Ependymoma (on the brain) /  Cardiff

Posted 1 year ago by Wales Gene Park

This trial is looking at adding valproic acid to chemotherapy after surgery to treat ependymoma. It is open to children younger than 1 year old and those with an ependymoma who can’t have radiotherapy after surgery to remove their tumour. Cancer Research UK supports this trial. There are 2 parts to this trial. In the 1st part the trial committee looks at the results of your tests and scans. The 2nd part is looking at treatment pathways. There are 3 treatment pathways in this trial. This information is about pathway 3. We have information on pathway 1 and pathway 2.

 Ependymoma (on the brain) /  England

Posted 1 year 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 1 year ago by Wales Gene Park

A trial of ipilimumab and temozolomide for people with glioblastoma Glioblastoma is one of the most common types of brain tumours in adults. The usual treatment for people with a newly diagnosed glioblastoma is: surgery to remove some or all of the tumour then 6 weeks of radiotherapy with temozolomide (this is called chemoradiotherapy) then temozolomide alone for up to 6 months (this is the adjuvant treatment) But glioblastomas can come back or continue to grow despite the usual treatment. In this trial, doctors want to find out whether ipilimumab can help to stop glioblastomas from coming back. Ipilimumab (also called by its brand name Yervoy) is a type of targeted drug called a monoclonal antibody. It works by stimulating certain immune cells called T-cells to find and attack the cancer. Ipilimumab is already a possible treatment for people with advanced melanoma. Everyone taking part in this trial has surgery...

 Glioblastoma /  London

Posted 1 year 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 1 year ago by Wales Gene Park

A study looking at blood and tissue samples to learn more about advanced cancer (PEACE) The purpose of the PEACE study is to increase our understanding of the changes that occur in each patient’s cancer by looking at tumour samples taken from patients who have recently died. Our research group is particularly interested in 'intratumour heterogeneity', which tells us that in different parts of the same tumour there can be different gene abnormalities that can interact and dictate how a tumour behaves and therefore how a cancer can progress. This study aims to (1) understand how cancers grow and spread, (2) identify gene abnormalities in different types of cancer, (3) identify markers within tumours that can predict whether a patient will respond to a particular anti-cancer therapy, (4) determine whether a single tissue sample is representative of the entire tumour, or whether multiple samples are required, (5) study the reasons...

 Oncology /  London

Posted 1 year ago by Wales Gene Park

A trial of targeted cancer therapies for children and young people with a brain tumour (BIOMEDE) Biomede is an international, multicenter, randomised, open-label, adaptive, phase II trial of treatment for Diffuse Intrinsic Pontine Glioma (DIPG). This trial mandates a biopsy of the tumour to obtain the biological profile of the tumour. The allocation of treatment in each patient will be based on the specific biological tumour profile. Recruitment target is 80 patients in the UK, 250 in the EU with DIPG over 4 years. The initial agents to be studied based on biomarkers profile are; Dasatinib, Erlotinib and Everolimus as single agents combined with standard radiotherapy.

 Diffuse intrinsic pontine glioma /  London

Posted 1 year 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 1 year ago by Wales Gene Park

To assess brain tumours doctors can use scans such as an MRI scan. The MRI scan is good at showing where the tumour is and how big it is. But it can’t show other features of the tumour such as how fast it is growing. The researchers want to combine the MRI scan with another scan called a PET scan. They think that this combination might be better at showing these other features of the brain tumour. This information would be helpful when planning further tests or treatments. The main aim of this study is to see if the combination of an MRI scan and PET scan is better at giving more detailed information about a brain tumour than an MRI scan only.

 Diffuse intrinsic pontine glioma /  Cambridge

Posted 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year ago by Wales Gene Park

A multi-centre randomised controlled trial to compare the clinical and cost effectiveness of Lee Silverman Voice Treatment versus standard NHS speech and language therapy versus control in Parkinson’s disease (PD COMM) Parkinson’s disease (PD) is a common movement disorder, affecting approximately 120,000 people in the UK. Over two thirds of people with PD report having speech related problems which has a great impact on their lives, leading to increased physical and mental demands during conversation, reduced independence and social withdrawal. Speech and language therapy (SLT) is advocated for people with PD but current provision is low, with a recent Parkinson’s UK survey reporting that just 37% of the patients included had received SLT. This may be attributed, in part, to the limited scientific evidence of a benefit of SLT for people with PD. Currently 2 different types of SLT are available in the UK: standard NHS SLT, typically consisting of...

 Early-onset Parkinson disease

Posted 1 year 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 1 year 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 1 year 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 1 year ago by Wales Gene Park

EuroNet-PHL-C2: Second International Inter-Group Study for Classical Hodgkin's Lymphoma in Children and Adolescents Treatment for Hodgkin lymphoma is often very successful, and has given us high cure rates. Standard treatment is chemotherapy, and in children and young people, additional radiotherapy is sometimes needed. Unfortunately, radiotherapy can lead to long-term side effects, such as cardiovascular system disease and increased risk of secondary cancers later on in life. In this trial, researchers want to individually tailor treatment for each child and young person, effectively treating Hodgkin lymphoma, but avoiding over-treatment and thereby reducing the late side-effects. the main goal is to further reduce the use of radiotherapy, thereby avoiding the long-term side effects often seen with radiotherapy. The aim of this study is to: Reduce numbers of children needing radiotherapy and minimise the extent of irradiation Investigate if intensifying chemotherapy in children with intermediate/advanced Hodgkin lymphoma will compensate for the reduction in radiotherapy

 Classic Hodgkin lymphoma /  University Hospital of Wales

Posted 1 year 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 1 year ago by Wales Gene Park

Arthritic and rheumatic diseases are chronic diseases caused by inflammation in joints, which can lead to permanent joint damage and disability. It is known that genetic factors, such as a change in DNA sequence, play a role in determining who will develop the disease. Some of these genetic sequence changes have already been identified, but there remain more to be discovered.   Once a genetic change has been shown to be important in disease, it is necessary to find out how that sequence change contributes to the illness. Certain DNA changes, for example, may alter the amount (expression) of a protein produced. Protein expression can be measured from blood samples and compared to see if the genetic sequence change predicts the level of protein expression.   Other genetic changes have no effect on protein expression, but may act inside individual cells to trigger inflammation. Often, in order to understand how a genetic...

 Juvenile Idiopathic Arthritis

Posted 1 year 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 1 year ago by Wales Gene Park

ProMPT: Molecular mechanisms of disease progression and the development of novel treatment strategies in advanced prostate cancer (Northern Prostate Cancer Collaborative (ProMPT))

 Prostate Cancer

Posted 1 year ago by Wales Gene Park

International Randomised Phase III Clinical Trial in Children with Acute Myeloid Leukaemia - Incorporating an Embedded Dose Finding Study for Gemtuzumab Ozogamicin in Combination with Induction Chemotherapy MyeChild 01 is an international phase III clinical trial in children with acute myeloid leukaemia (AML); a disease with a significant mortality. It will compare two induction chemotherapy regimens: mitoxantrone and cytarabine (current standard treatment) with liposomal daunorubicin and cytarabine. This will test liposomal daunorubicin, which is believed to be less cardiotoxic than similar conventional drugs, although this is unproven. Patients responding well to induction chemotherapy are eligible for a randomisation of two consolidation regimens: high dose cytarabine (current standard treatment) or fludarabine and cytarabine (FLA); a regimen commonly used in patients with relapsed disease, testing whether FLA is more effective in front line therapy than standard consolidation treatment. Patients with cytogenetic features associated with a higher risk of relapse and those responding...

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

Posted 1 year ago by Wales Gene Park

CheckpOiNt blockade For Inhibition of Relapsed Mesothelioma (CONFIRM): A Phase III Trial to Evaluate the Efficacy of Nivolumab in Relapsed Mesothelioma Doctors treat mesothelioma with chemotherapy. After chemotherapy if the mesothelioma comes back the aim is to control symptoms. This is called active symptom control. Researchers want to find out if nivolumab can help these people. Nivolumab is a type of immunotherapy drug called a monoclonal antibody. It works by stimulating the body’s immune system to recognise and kill cancer cells. We know from research that nivolumab could help people whose mesothelioma has come back after chemotherapy. But it isn’t known if it as good as active symptom control. In this trial most people will have nivolumab and some will have a dummy drug (placebo). The main aims of the trial are to find: how well nivolumab works for people whose mesothelioma has come back after chemotherapy how safe it...

 mesothelioma /  Velindre Cancer Centre

Posted 1 year 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 1 year ago by Wales Gene Park

The Scotty Study: whole genome sequencing study of young colon cancer patients and their parents Scientists in Edinburgh are leading a groundbreaking UK-wide study that could help doctors and scientists identify patients at risk of developing bowel cancer and find new treatments for the disease. Professor Malcolm Dunlop and his team from the Cancer Research UK Edinburgh Centre is leading the SCOTTY study (Sequencing of COlon Trios in The Young). Funded by Cancer Research UK, the research group is studying the genetic make-up of patients who have been diagnosed with bowel cancer at a very young age. The scientists are searching for mutations in the DNA of young bowel cancer patients, to enable them to define more of the underlying genetic causes of the disease. There are around 41,700 new bowel cancer cases in the UK every year*, and every year around 16,000 people in the UK die from the...

 Colon Cancer /  Wales Wide

Posted 1 year 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 1 year ago by Wales Gene Park

Response to Optimal Selection of neo-adjuvant Chemotherapy in Operable breast cancer: A randomised phase III, stratified biomarker trial of neoadjuvant 5- Fluorouracil, Epirubicin and Cyclophosphamide vs Docetaxel and Cyclophosphamide chemotherapy (ROSCO) Doctors often give chemotherapy first to help shrink tumours before surgery for breast cancer. If you have invasive breast cancer you might be offered a combination of drugs that includes a taxane such as docetaxel (also called Taxotere). Or you might have combination that includes an anthracycline such as epirubicin. At the moment, doctors usually give both drugs one after the other. These drugs work in different ways to kill cancer cells. For some people epirubicin works well and for other people docetaxel works well. But doctors aren’t sure which drugs work best for which people. All drugs have side effects and doctors don’t want to give drugs that people don’t need. In this trial, researchers are looking at...

 Hereditary breast cancer /  Velindre Cancer Centre

Posted 1 year 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 1 year ago by Wales Gene Park

A phase III study to determine the role of ixazomib as an Augmented Conditioning therapy in salvage autologous stem cell transplant (ASCT) and as a post-ASCT Consolidation and maintenance strategy in patients with Relapsed multiple myeloma. Following a stem cell transplant for myeloma, there can be no signs of the disease. This is called remission  After some time, your myeloma might come back. This is a relapse. If this happens, you can have treatment with: a targeted cancer drug (biological therapy) called thalidomide a steroid drug called dexamethasone In this trial doctors are looking at a new drug called ixazomib. Ixazomib is a targeted cancer drug called a cancer growth blocker. It blocks certain proteins that tell cancer cells to divide and grow. Everybody taking part has thalidomide, dexamethasone and ixazomib. This is re-induction treatment. Then, you might have 1 of the following: a transplant using your own stem cells...

 Multiple myeloma /  Singleton Hospital

Posted 1 year 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 1 year 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 1 year 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 1 year ago by Wales Gene Park

– For adults with AML or High Risk MDS aged 18 to 60 years, and for patients aged 60 years or over for whom intensive therapy is considered appropriate If you are on the AML 19 trial, you will receive intensive induction chemotherapy like the patients who enter the AML 18 trial, following written consent to enter the study. In this study, the first two courses of treatment, called the induction phase, will consist of two combinations of chemotherapy drugs which are being compared, called DA (Daunorubicin and Ara-C), or FLAG-Ida (Fludarabine, Ara-C, G-CSF and Idarubicin). Both combinations have been widely used and have already been extensively tested and given to hundreds of patients. Again, similar to AML 18, this study will also compare if adding one or two doses of Mylotarg to standard treatment (DA or FLAG-Ida) is better. Therefore, patients will also receive one dose or two doses...

 Myelodysplasic Syndromes /  Cardiff University

Posted 1 year ago by Wales Gene Park

National Lung Matrix Trial: Multi-drug, genetic marker-directed, non-comparative, multi-centre, multi-arm phase II trial in non-small cell lung cancer The trial consists of a series of parallel multi-centre single arm Phase II trial arms, each testing an experimental targeted drug in a population stratified by multiple pre-specified actionable target putative biomarkers. The primary objective is to evaluate whether there is a signal of activity in each drug-(putative)biomarker cohort separately. A Bayesian adaptive design is adopted to achieve this objective. The trial is primarily an enrichment putative biomarker design, including patients who are positive for at least on of the actionable targets included in the trial. Patients who are positive for just one putative biomarker will receive the experimental targeted drug specific for that putative biomarker. Putative biomarkers within each drug cohort have been chosen such that in the majority of cases it is not expected that patients will be positive for...

 Non-small cell lung cancer /  Velindre Cancer Centre

Posted 1 year ago by Wales Gene Park

PHITT: Paediatric Hepatic International Tumour Trial Liver cancer in the paediatric population is rare with an incidence approximately 1 - 1.5 million population. The commonest tumour seen in the childhood population is hepatoblastoma (HB), usually seen in young children and infants. Much rarer (about 10% of paediatric liver cancers) is hepatocellular carcinoma (HCC), usually seen in the teenage population and sometimes associated with underlying cirrhotic liver diseases. The ChiLTERN project builds on a unique opportunity to undertake a comprehensive research program linked to an ambitious global partnership which will see the single largest clinical trial (the Paediatric Hepatic International Tumour Trial - PHITT) ever undertaken in this population of patients, with several randomised questions in six subgroups of patients. PHITT and ChiLTERN will allow us to move towards an era of personalised therapy in which each patient will receive the correct amount of chemotherapy and will undergo the best surgical operation...

 Hepatic Cancer /  University Hospital of Wales

Posted 1 year 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 1 year 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 1 year ago by Wales Gene Park

A study to assess clinical phenotype, beta cell function, genetics, and autoantibodies in Extremely Early Type 1 Diabetes (EET1D) to better understand the aetiology and progression of beta cell destruction in Type 1 diabetes (T1D) occurring in the first year of life. As a study of a very rare disease ( < 100 in UK) defined by genetics, it is adopted as a Musketeers' Memorandum Study.

 Early-onset Type 1 Diabetes

Posted 1 year 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 1 year ago by Wales Gene Park

A trial comparing surgery, conventional radiotherapy and stereotactic radiotherapy for localised prostate cancer (PACE) If prostate cancer is diagnosed before it has spread outside the prostate gland, there are several treatment options including surgery to remove the prostate gland, external radiotherapy and internal radiotherapy (brachytherapy). Some men may now also be offered a new way of having external radiotherapy called stereotactic radiotherapy. You have stereotactic radiotherapy over a shorter period of time than conventional radiotherapy. All of the treatments listed above work well, but doctors don’t know if one is better than the other or which one has the fewest side effects. In this trial, some men will have keyhole surgery to remove the prostate gland (laparoscopic prostatectomy), some will have conventional radiotherapy and some will have stereotactic radiotherapy. The aim of the study is to compare the different treatments to find out How long men live after each treatment...

 Prostate Cancer /  Wales Wide

Posted 1 year ago by Wales Gene Park

National Study of Colorectal Cancer Genetics There are several different factors that can increase risk of developing bowel (colorectal) cancer. One is an inherited faulty gene (genetic mutation). An inherited genetic mutation may mean that several people in the same family develop bowel cancer. This is called a strong family history’. Inherited conditions such as familial adenomatous polyposis (FAP) or hereditary non-polyposis colorectal cancer (HNPCC) also increase risk. The increase in risk will depend on which gene is damaged, or even on which part of the gene is damaged. Some genetic mutations are ‘high penetrance’ and increase risk a lot. Others are ‘low penetrance’ and don’t increase risk very much. The aim of this study is to find out more about high penetrance genes, and how much they increase risk. And to look for new low penetrance genes.

 Rare Non-specific /  Wales Wide

Posted 1 year 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 1 year ago by Wales Gene Park

The Use of Novel Biological Therapies in the Treatment of Systemic Lupus Erythematosus (SLE).  (Long-term Safety of New Treatments in the Management of SLE) The BILAG Biologics Register (BILAG BR) is a study underway at hospitals throughout the UK. It is looking at the safety and effectiveness of biologic and biosimilar treatment for systemic lupus erythematosus (SLE). Biologic drugs use substances that are made from living organisms, and use the body’s natural immune system to treat a disease. This can be done by stimulating or suppressing part of the immune system to help the body fight the disease. We’ll follow your progress through your hospital care team, who will collect data on your lupus symptoms and treatment when you attend your routine hospital appointments. With your consent, we will collect urine samples from you, as well as extra blood samples at the same time as your usual blood tests, so...

 Lupus /  Prince Charles Hospital

Posted 1 year 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 1 year 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 1 year 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 1 year ago by Wales Gene Park

Framing the trajectories of decision-making in the context of predictive and prenatal genetic and genomic tests A study to identify the factors that influence the decisions made by genetic counselling patients about proceeding with genetic tests. Background Most genetic tests are carried out to confirm a diagnosis. Some people are offered genetic tests for reasons that are only partly medical and where the patient’s personal views and preferences are as important (if not more important), than any medical reasons. The purpose of this research is to understand how patients make these decisions. Study aim The study aims to identify the factors that influence the decisions made by genetic counselling patients about proceeding with genetic tests. It will also examine to what extent a patient’s decision-making processes are shaped by their conversation with the healthcare professionals in clinics, and to what extent factors from outside the clinic influence this decision. Understanding...

 Cardiff University

Posted 1 year ago by Wales Gene Park

The PBC Genetics Study is a national effort to establish a PBC DNA collection consisting of DNA samples from approximately 5000 patients with PBC. The DNA collection has already been used for a genome-wide association study (GWAS) of PBC.  The next major analysis will be a genome wide association study of response to Ursodeoxycholic acid (UDCA).

 Primary Biliary Cirrhosis /  Wales Wide

Posted 1 year ago by Wales Gene Park

International Penile Advanced Cancer Trial (International Rare Cancers Initiative Study) (InPACT) Penis cancer is a rare disease with a limited body of evidence on which to base the majority of management decisions. In 2011, 558 new cases of penis cancer were registered. Spread to lymph nodes in the groins and the pelvis is the most important prognostic factor: around 80% of patients who have a single involved lymph node in the groin will be alive at 5 years, but only 10% of patients who have involved deeper pelvic lymph nodes will survive. Conventional treatment for patients with positive groin nodes is surgery to remove all the affected nodes. Chemotherapy (CT) given before surgery (neoadjuvant CT) is shown to shrink affected nodes, but the impact of this approach on survival has not been assessed. Use of synchronous chemoRT (radiotherapy given at the same time as CT) has traditionally been in two...

 Penile Cancer /  Wales Wide

Posted 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year ago by Wales Gene Park

Would you like to know more about your kidney disease? Would you consider joining a national database? The National Registry of Rare Kidney Diseases (RaDaR) is a research initiative by UK kidney specialists (the Renal Association and the UK Renal Registry). It is designed to gather information from patients with rare kidney diseases. This will give a much better understanding of how these illnesses affect people. It will also speed up research. How does it work? Information about your treatment and any medications you are on will be entered into the RaDaR database by a member of your hospital’s research team. You will be given login details to see your information online via a website called Patient View (www.PatientView.org), if your hospital is signed up to this. Doctors and other researchers who are interested in your specific condition are working together as part of a Rare Disease Group (RDG). They have access to...

 Nephrology /  Wales Wide

Posted 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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


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