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.
Disclaimer
Read more
Show less
This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for DEVELOPMENTAL DISORDERS are added.
By submitting, you agree to our Terms of use
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
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Locations
-
Rouen University Hospital
Rouen, France