London

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

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 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

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 12 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 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

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

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

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

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

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 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

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

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


No post found