Advancing Neurogenetic Diagnoses Through Long-Read Sequencing
France304 participantsStarted 2026-09
Plain-language summary
Nucleotide repeats emerge as one of the most prolific classes of genetic variations. They have the propensity to in-crease in length across generations, and have been implicated in at least 65 known neurological/ neurodevelop-mental and neuromuscular conditions. Simultaneous analysis of all these nucleotide repeats is now possible through the cutting-edge methodologies recently developed that are the long-read sequencing and the optical genome mapping. Investigator propose to test these methodologies in patients carrying expansions in those repeats and to determine the capacity of these technics to detect novel repeats in patients with no genetic diagnosis yet.
Who can participate
Age range
6 Years – 60 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* All participants :
* Participants affiliated with or beneficiaries of a social security scheme
* Participants who speak French
* Participants aged ≥ 6 and ≤ 60 years
* For patients requiring a new sample:
* Free and informed consent, signed by the parents or the holder of parental authority for patients under the age of 18
* Free and informed consent, signed by the patient's representative for adults under guardianship
* Free and informed consent, signed by the adult patient
* For diagnosed patients :
• DeoxyriboNucleic Acid (DNA) sample from a subject carrying a nucleotide repeat expansion in one of the selected genes.
* DNA available in sufficient quantity (5-10 µg) or patient agreeing to a blood draw from which DNA will be extracted.
* DNA extraction methods known and validated by the steering committee (see paragraph 7).
* For participants from undiagnosed families :
o Index cases:
• Patient affected by a neurological disease candidate for these repeats, for which genomic data did not reveal mutations or expansions in known genes.
* Patient whose DNA is already available and whose extraction method is known and validated by the steering committee or patient whose DNA is not available but who agrees to a blood draw.
* Patient willing to undergo a skin biopsy if not previously obtained.
* Patient with no family members affected by any of the neurological diseases candidate for these repeats, i.e., genomic data do not r…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.