England

Posted 3 months ago by Wales Gene Park

AL101 is a small-molecule that inhibits gamma secretase, an enzyme which plays a key role in the activation of the Notch signaling pathway by releasing the Notch intracellular domain (NICD) of all four Notch receptors from the membrane. In patients with aberrant Notch signaling, AL101 may inhibit Notch signaling and potentially impede tumor growth.The drug is administered intravenously

 Adenoid Cystic Carcinoma /  Manchester

Posted 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 2 years ago by Wales Gene Park

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

 Non-Specific Genetics /  England

Posted 2 years ago by Wales Gene Park

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

 Usher Syndrome /  London

Posted 2 years ago by Wales Gene Park

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

 Leber Hereditary Optic Neuropathy /  England

Posted 2 years 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 2 years ago by Wales Gene Park

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

 Haematological Cancer /  London

Posted 2 years ago by Wales Gene Park

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

 Paediatric Cancers /  England

Posted 2 years ago by Wales Gene Park

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

 Rare Bowel Cancers /  Birmingham

Posted 2 years ago by Wales Gene Park

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

 Chronic lymphocytic leukaemia /  England

Posted 2 years ago by Wales Gene Park

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

 Prostate Cancer /  Bristol

Posted 2 years ago by Wales Gene Park

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

 rare lichenoid and scarring dermatoses and rare alopecias /  London

Posted 2 years ago by Wales Gene Park

The 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 2 years ago by Wales Gene Park

BRAGGSS- Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate

 Genetics /  Manchester

Posted 2 years ago by Wales Gene Park

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

 Rolandic epilepsy /  London

Posted 2 years ago by Wales Gene Park

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

 Rolandic epilepsy /  London

Posted 2 years ago by Wales Gene Park

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

 Myoclonic epilepsy of infancy /  London

Posted 2 years ago by Wales Gene Park

 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 2 years ago by Wales Gene Park

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

 Non-specific Rare disease/Undiagnosed /  London

Posted 2 years ago by Wales Gene Park

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

 Rare Cancers (non-specific) /  London

Posted 2 years ago by Wales Gene Park

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

 Diffuse intrinsic pontine glioma /  London

Posted 2 years ago by Wales Gene Park

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 2 years 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 2 years ago by Wales Gene Park

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

 Classic hairy cell leukemia /  Southampton

Posted 2 years ago by Wales Gene Park

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

 Pituitary carcinoma /  London

Posted 2 years ago by Wales Gene Park

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

 Juvenile Anal Cancer /  Leeds

Posted 2 years ago by Wales Gene Park

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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