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.
Similar studies
Other trials that look related to this one.
This study looks at leftover muscle tissue from people who have had genetic testing for rare muscle diseases but didn't get a clear diagnosis. The goal is to use newer genetic analysis to find the cause of their disease.
This study uses genome (DNA) sequencing to look for the genetic cause of rare disorders, especially when the cause is unknown. It may help some families better understand what is driving the condition, using genetic information from the affected person and often their parents.
This study is for children or adults with neurodevelopmental conditions and unusual physical features, where standard genetic tests haven't found a cause. Researchers will use RNA and DNA sequencing to look for hidden genetic explanations, which could guide better care.
This study is trying to find the gene or body-process cause of rare diseases (or rare forms of common diseases) when the reason is not yet understood. If you qualify, you may be asked to give genetic and health information that could help doctors diagnose and understand the condition better.
This trial uses a new DNA sequencing method that reads long stretches of DNA to find genetic causes of rare diseases. It is for people who have intellectual development disorders or albinism and have not yet gotten a clear genetic diagnosis from standard tests.
This study looks at genetic-related and blood/biologic markers in people with an inherited (genetic) intellectual disability. The goal is to better understand these differences and how they might relate to the condition.
Hear when a new Rare Genetic Disease trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.