Tiny study could help predict rare genetic risks for developmental disorders
NCT ID NCT04564235
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study examined 5 families where a child has a developmental disorder with no known cause. Researchers analyzed the genomes of the child and both parents, then checked the father's sperm for the same new mutations found in the child. The goal was to see how often these mutations appear in sperm, which could help estimate the risk of having another child with the same condition.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this could help estimate the risk of a father passing a new genetic mutation to future children, improving genetic counseling for families with developmental disorders.
- What could go wrong
- This is a very small study with only 5 families, so findings may not apply to everyone. It is observational and does not test a treatment, so it won't directly change care.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Rouen University Hospital
Rouen, France
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Other studies related to the condition(s) this trial covers.