Neurology

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

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

 Guillain-Barré Syndrome

Posted 11 months ago by Wales Gene Park

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

 Guillain-Barré Syndrome /  England

Posted 11 months ago by Wales Gene Park

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

 Huntington's Disease

Posted 11 months ago by Wales Gene Park

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

 Huntington's Disease /  Cardiff

Posted 11 months ago by Wales Gene Park

This study will evaluate the long-term safety and tolerability of RO7234292 (RG6042) in participants who have completed other F. Hoffmann-La Roche, Ltd.-sponsored and/or Genentech-sponsored studies in the Huntington's disease (HD) in the development program for RG6042. Entry into the study should occur at the time the participant completes participation in one of the preceding studies. Upon completion of the inclusion visit, eligible patients will receive either RO7234292 (RG6042) every 8 weeks (Q8W) or RO7234292 (RG6042) every 16 weeks (Q16W) by bolus intrathecal injection.

 Huntington's Disease /  Cardiff

Posted 11 months ago by Wales Gene Park

European Integrated Project on the Spinocerebellar Ataxias (EUROSCA) recruiting participants at the London Specialist Ataxia Centre This is a multi-centre European project that started due to funding from the European Commission in 2008. One of the ongoing aims of this European collaboration is to establish a database containing clinical and genetic information from patients with a group of spinocerebellar ataxias. This will be the largest registry of patients with such rare diseases. The focus is specifically on SCA1, SCA2, SCA6 and SCA7. The Centre is also in a similar project on SCA3.  

 Ataxia /  London

Posted 11 months ago by Wales Gene Park

Magnetic Resonance Imaging (MRI) can be used to take a variety of pictures of the brain. Researchers at Cardiff University have developed new methods to look in more detail at each of the brain regions. They are conducting a study that aims to improve their understanding of these new measurements, and how they relate to changes in the brain. To achieve this, they plan to carry out scans of healthy volunteers and of patients with movement disorders.  They aim to recruit 20 people diagnosed with movement disorders and 20 healthy volunteers, and are specifically looking to include patients with SCA2 and SCA6. The researchers hope that this study will contribute towards being better able to monitor individuals with movement disorders, specifically ataxias, and may be helpful when planning future trials. Participants would need to travel to Cardiff but travel expenses will be provided

 Ataxia /  Cardiff

Posted 1 year ago by Wales Gene Park

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

 Rolandic epilepsy /  London

Posted 1 year ago by Wales Gene Park

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

 Rolandic epilepsy /  London

Posted 1 year ago by Wales Gene Park

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

 Myoclonic epilepsy of infancy /  London

Posted 1 year ago by Wales Gene Park

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

 Huntington's Disease /  Cardiff University

Posted 1 year ago by Wales Gene Park

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

 Late onset familial alzheimer's disease

Posted 1 year ago by Wales Gene Park

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

 Early-onset Parkinson disease

Posted 1 year ago by Wales Gene Park

We are carrying out research into conditions that affect the brain and / or the immune system. The disorders that we are interested in most likely arise due to changes in genes (or DNA); genes are like recipe books, telling the cells in our body how to make chemicals called proteins. The aim of our work is to understand how changes in the genes and proteins involved in these conditions cause disease. This is not understood at present, and so this research will provide new and important information. We believe that a better understanding of the cause of these diseases will bring us closer to developing ‘smart’ treatments for people affected by, or at risk of, these genetic conditions. The study is likely to take several years to complete and there may be no direct benefit from this research to your child. There would also not be any financial benefit....

 Neurology /  University Hospital of Wales

Posted 1 year ago by Wales Gene Park

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

 Opsoclonus Myoclonus Syndrome /  Wales Wide

Posted 1 year ago by Wales Gene Park

Huntington’s disease (HD) commonly begins in mid-life. However, research over the last 20 years has demonstrated that subtle behavioural and cognitive changes can occur 10 years or more before a formal clinical diagnosis is made, and recent studies have demonstrated the presence of changes on brain imaging 20 years prior to predicted onset of the disease in individuals who are clinically completely normal. This has prompted the question “is the brain ever normal in HD?”. Answering this question and characterising any such changes will be important for A full understanding of the genetic and cellular processes leading to the death of specific brain cells in HD Revealing new therapeutic targets Judging the stage at which various disease-modifying treatments (once available) should be used in clinical trials With the promise of disease-modifying treatments on the horizon, ranging from drugs to infusions of RNAi/ASOs (molecules to suppress the formation of the toxic mutant...

 Huntington's Disease /  Cardiff University

Posted 1 year ago by Wales Gene Park

PFP is a UK wide study looking at finding new Parkinson’s genes so that we can understand the causes of the disease better and develop new treatments. The study involves a single visit that takes about 2 hours. You can come in to the study site, or take part remotely if your local GP is able to collect blood samples for the project.

 Rare types of Parkinson's disease /  Llandudno General Hospital

Posted 1 year ago by Wales Gene Park

Enroll-HD is a global observational study for Huntington’s disease families The purpose of this study is to collect information from study participants, allowing researchers to understand more about the disease, with the aim of accelerating the discovery and development of potential treatments for Huntington's Disease (HD). It will monitor how the disease appears and changes over time in different people; those who have a clinical diagnosis and those who are at-risk of developing the disease. ENROLL-HD also collects information from HD family members and carers.  

 Huntington's Disease /  Cardiff University


No post found