Using cell and blood tests to find causes of rare developmental disorders
Treatments studied
Part of Brain & nervous system, Mental health clinical trials.
This study is looking for people with rare, unexplained conditions that cause early intellectual disability and low muscle tone. Researchers want to study your cells and blood to try to find new genetic causes that standard DNA tests missed.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child has severe learning difficulties (intellectual disability) and/or low muscle tone (hypotonia) that started at birth or very early in life.
- You are being seen at one of the three study centers (hospitals) in France.
- You have already had a very detailed DNA test (like exome or genome sequencing) that did not find the cause of your symptoms.
- If your symptoms suggest a specific condition (like Prader-Willi, Angelman, fragile X, or myotonic dystrophy type 1), the specific test for that condition came back negative.
- You can understand French and are willing to sign a consent form.
- You are not currently pregnant or breastfeeding, and you are not under legal guardianship.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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