Prospective Cohort Study of Neurogenetic Diseases
This study focuses on neurogenetic diseases, which are rare, inherited conditions affecting the nervous system. The main goal is to create a hub where information and biological samples (like blood) from people with these conditions can be collected in one place. This helps scientists to deeply understand these diseases and speed up research into new treatments. By bringing together doctors and researchers, the study hopes to find new ways to help patients. Participants will have regular health checks and provide samples over three years. The study also includes healthy volunteers for comparison. Ultimately, the aim is to find effective treatments and improve care for those living with these conditions.
At a glance
What is this study about?
This study is all about understanding a group of rare, inherited health problems called neurogenetic diseases (NGDs). These conditions affect the brain, spinal cord, and nerves, and they can lead to a variety of symptoms, from learning difficulties and epilepsy to movement problems like Huntington's disease or issues with walking and balance. Because these conditions are passed down through families and are quite rare, it's often hard to find enough information and research to develop new treatments.
The main idea behind this study is to create a central point, a 'hub,' where doctors and researchers can gather detailed information and samples from people living with NGDs. Think of it like building a comprehensive library of knowledge about these conditions. This information includes a deep understanding of a person's health, symptoms, and how their condition affects them, alongside samples like blood or urine. By having all this in one place, it becomes much easier for different research teams to study these conditions, connect with each other, and hopefully, speed up the discovery of new treatments.
Ultimately, the study aims to bridge the gap between understanding these diseases in the lab and actually developing new medicines and therapies that can help patients. By building this strong foundation of knowledge and samples, the researchers hope to make it possible to run clinical trials for potential new treatments in the future, which is the ultimate goal for improving the lives of individuals with neurogenetic diseases.
Key takeaways
- Focuses on understanding rare, inherited nerve conditions.
- Aims to create a central resource for research.
- Involves annual health check-ups and sample collection (blood, urine, optional skin/spinal fluid).
- Participation lasts for three years.
- No new medicines are given as part of this study.
- Helps pave the way for future treatments.
Who may be eligible?
This study is looking for people with a confirmed neurogenetic disease who are 6 years old or older. You'll need to have had a genetic test that clearly identifies your specific condition.
They are also looking for healthy volunteers to act as a 'control group' for comparison. These volunteers must be 18 years or older and their age and sex will be matched to the adult patients in the study. Some of these healthy volunteers might be asked to provide a spinal fluid sample, if they've already had one taken for medical reasons.
You won't be able to join if you are pregnant or breastfeeding, or if you're already in another study that might affect this one. Also, if you can't or won't provide blood samples, you won't be able to participate. For those considering a spinal fluid sample, you can't have any medical reasons that would make this procedure unsafe.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Do you have a genetically confirmed neurogenetic disease?
- Are you aged 6 years or older?
- Are you able to provide blood samples?
- Are you not pregnant or breastfeeding (if applicable)?
- Are you not already in another clinical trial that might affect this one?
What does participation involve?
If you join this study, your involvement will last for three years. Each year, you will have a thorough health check-up. This will include a full review of your symptoms and how your condition affects you. You will also be asked to provide blood and urine samples annually. In some cases, and only if you agree, you might be asked to consider a skin biopsy (a very small skin sample) or a lumbar puncture (a procedure to collect spinal fluid). These additional samples are entirely optional. There are no study medications involved; this is an observational study focusing on understanding the disease better through information and sample collection.
Potential risks and benefits
Locations (1)
- Chu de BordeauxVerified postcodeBordeaux, France· Recruiting
Common questions
What is a neurogenetic disease?
These are rare, inherited conditions that affect the brain, nerves, and spinal cord, leading to various health challenges.
Why is this study important?
It aims to gather detailed information and samples to help researchers better understand these conditions and develop new treatments.
What does 'deep phenotyping' mean?
It means gathering very detailed information about your symptoms, health, and how your condition affects you, to get a complete picture.
Will I have to take any new medicines?
No, this study does not involve taking any new medications. It focuses on observing your condition and collecting samples.
Can children join this study?
Yes, children aged 6 years and older with a confirmed neurogenetic disease can participate.
How to find out more
Chloe ANGELINI, MD
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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