England

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 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

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

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

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 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

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 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

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

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

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

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

 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

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

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

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


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