Neurology

Posted 2 months ago by Wales Gene Park

Brief Summary: This is a Phase 1/2, multicenter, randomized, placebo-controlled, double-blind study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of single and multiple doses of DNL593 in two parts followed by an optional open-label extension (OLE) period. Part A will evaluate the safety, tolerability, PK, and PD of single doses of DNL593 in healthy male and healthy female participants of nonchildbearing potential. Part B will evaluate the safety, tolerability, PK, and PD of multiple doses of DNL593 in participants with frontotemporal dementia (FTD) over 25 weeks. Part B will be followed by Part C, an optional 18-month OLE period available for all participants who complete Part B.

 Frontotemporal Dementia /  Merthyr Tydfil

Posted 2 months ago by Wales Gene Park

Brief Summary: Epilepsy is a common neurological disorder affecting 1% of the population. There are over 30 types of epilepsy, some common, some rare. Most epilepsies arise in childhood and have a genetic cause. Approximately 40% of patients have the common forms of Genetic Generalised Epilepsy (GGE), and the commonest GGE is “Juvenile Myoclonic Epilepsy” or JME. There is overwhelming evidence that JME is caused by changes in genetic code. These changes are likely to be found in more than just one gene and there may be more than one type of change. In order to find these changes we need to study a large number of people with JME and compare their genetic code with people who do not have epilepsy. Finding the causes of JME will lead to better understanding of its cause, new treatments, and tailoring of treatments according to a person's genetic make-up. The aim of...

 Juvenile Myoclonic Epilepsy /  Swansea

Posted 5 months ago by Wales Gene Park

Brief Summary Progressive Supranuclear Palsy (PSP), Cortico-Basal Degeneration (CBD) and Multiple System Atrophy (MSA) are degenerative brain conditions for which there are currently no curative treatments. To aid the development of new treatment trials, there is a pressing need to develop better methods for diagnosing these conditions early, and to track disease progression. The PROSPECT-M-UK study will collect standardised clinical data over time. Patients will also have the option to have a brain MRI scan, eye movement exam and donate blood, skin and spinal fluid samples, with the aim to identify "biomarkers" that can improve the accuracy of early diagnosis and track the natural time course of disease. Control participants and those not meeting criteria for Parkinson's disease or other defined conditions but are considered by the investigator group to be allied syndromes or at risk states (atypical parkinsonian syndromes), will also be examined. Patients can also participate via the...

 Progressive Supranuclear Palsy-Corticobasal Syndrome /  London

Posted 5 months ago by Wales Gene Park

Brief Summary The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study. Detailed Description This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to...

 Charcot-Marie-Tooth Disease /  London

Posted 5 months ago by Wales Gene Park

Brief Summary This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a five year window Detailed Description The inherited peripheral neuropathies are often called Charcot Marie Tooth Disease (CMT), named after the three physician scientists who first described them. These are a heterogenous group of disorders caused by mutations in more than 50 different genes. The diseases cause weakness and loss of sensation in patients. There are no effective treatments for any forms of CMT. There is also limited information on the natural history of how any of...

 Charcot-Marie-Tooth Disease /  London

Posted 5 months ago by Wales Gene Park

Brief Summary The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions. More details and online registration are available at www.mtmcnmregistry.org. Detailed Description The Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry is managed and operated by the John Walton Muscular Dystrophy Research Centre at Newcastle University, in partnership with the Myotubular Trust, and is part of the TREAT-NMD Neuromuscular Network. The registry has been developed in partnership with a number of leading neuromuscular researchers, and is jointly funded by the Myotubular Trust and Muscular Dystrophy UK. Participants register online and must provide consent before accessing the registry questionnaire. The clinical data are provided by the participants, and the genetic data are obtained by the Registry Curator via the genetic report. The MTM & CNM Registry aims to: Help identify patients for relevant clinical...

 Centronuclear Myopathy /  Newcastle

Posted 5 months ago by Wales Gene Park

Brief Summary NorAD is a clinical trial funded by the UK National Institute of Health Research. In this trial the investigators will assess whether a long-acting preparation of guanfacine, a drug used to treat Attention Deficit Hyperactivity Disorder in children, can improve thinking (particularly attention) in Alzheimer's Disease when it is added to the standard NICE-approved drugs that are normally used in this condition. This is a randomized clinical trial designed to evaluate the efficacy of extended-release guanfacine as an add-on therapy in AD, and whether it improves cognition compared to standard cholinergic therapy alone. Detailed Description There is evidence suggesting that both noradrenaline and acetylcholine have key roles to play in attention. Guanfacine acts by increasing levels of noradrenaline, a substance in the brain which is closely linked with attention, both noradrenaline levels and attentional performance have been shown to be reduced in Alzheimer's Disease. In this study the...

 Familial Alzheimer's Disease /  London

Posted 5 months ago by Wales Gene Park

Summary This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has. This project is to understand modifier genes and how they influence the severity of disease expression, along with identifying new forms of CMT which have not been genetically determined. Subjects who are eligible will either have CMT type 1A (CMT1A) or an unknown form of CMT. Blood will be drawn and sent to the University of Miami where they receive the coded sample and process it through exome sequencing. Subjects will be told that this is optional.  

 Charcot-Marie-Tooth Disease /  London

Posted 6 months ago by Wales Gene Park

Brief Summary The purpose of this European, multicentric, prospective, non-interventional study is to document and evaluate the efficacy and safety of the treatment of severely infected patients with intravenously administered fosfomycin, including patients with osteomyelitis, complicated urinary tract infection, nosocomial lower respiratory tract infection, bacterial meningitis/central nervous system infection, bacteraemia/sepsis, skin and soft tissue infection, endocarditis or other infections, each as far as covered by the respective nationally relevant SmPC.

 Bacterial Meningitis /  England

Posted 6 months ago by Wales Gene Park

Brief Summary This study will test an investigational drug called AZD1390 in combination with radiation therapy for the treatment of brain tumors. This is the first time AZD1390 is being given to patients. This study will test safety, tolerability and PK (how the drug is absorbed, distributed and eliminated) of ascending doses of AZD1390 in combination with distinct regimens of radiation therapy. Detailed Description This first time-in patients (FTIP), open-label, multicentre study of AZD1390 will be conducted in the United States and in the United Kingdom, and it consists of three treatment arms: Arm A, B, C. This Phase 1 study will assess safety and tolerability of AZD1390 in combination with radiation therapy (RT) in brain malignancies. The combination cohorts have been designed to assess escalating cumulative doses of AZD1390 in settings with 3 different radiation treatment regimens: Arm A: 35 Gy over 2 weeks with intensity-modulated radiation therapy (IMRT)...

 Ataxia /  Cambridge

Posted 6 months ago by Wales Gene Park

Brief Summary The purpose of the study is to test how well patients with advanced solid tumors respond to treatment with elimusertib (BAY1895344) in combination with pembrolizumab. In addition researchers want to find for patients the optimal dose of elimusertib in combination with pembrolizumab, how the drug is tolerated and the way the body absorbs, distributes and discharges the drug. The study medication, elimusertib, works by blocking a substance (ATR Kinase) which is produced by the body and is important for the growth of tumor cells. Pembrolizumab is an immunologic checkpoint blocker that promotes an immune response against the tumor.

 Ataxia /  London

Posted 11 months ago by Wales Gene Park

A Phase 2 open label study evaluating the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of AL001 in participants with a Granulin mutation or C9orf72 mutation causative of frontotemporal dementia.

 Frontotemporal Dementia

Posted 11 months ago by Wales Gene Park

One person in every 500 has Parkinson's and around 127,000 people are living with the condition in the UK. The aim of the study is to identify new genes that predispose or cause Parkinson's Disease or Parkinsonism. There is a pressing need to study the genetic makeup of family members both with and without Parkinson's. As families share a common genetic background, it is easier to find new Parkinson's genes by studying the genetic makeup of people with Parkinson's alongside other members of their families. We are particularly interested in studying the genetic makeup of two groups of people: those who developed Parkinson's before the age of 45; and those who have a family history of other relatives affected by Parkinson's. By identifying genetic factors that cause Parkinson's, we hope to understand more about the condition. Doing so will lead to the development of better diagnosis, improved disease models, and...

 Autosomal Recessive Juvenile Parkinson Disease /  London

Posted 11 months ago by Wales Gene Park

This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Ataxia-Telangiectasia (A-T). There are two phases to this study: the Parent Study, and the Extension Phase. The Parent Study evaluates the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the symptomatic treatment of A-T. The Extension Phase evaluates the long-term safety and efficacy of IB1001 for the neuroprotective, disease-modifying treatment of A-T.

 Ataxia Telangiectasia /  Cambridge

Posted 3 years 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 3 years 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 3 years 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 3 years ago by Wales Gene Park

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

 Huntington's Disease /  Cardiff University


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