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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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5 people
The number who actually took part.
- Started
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Feb 2021
- Finished
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Dec 2022
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Trio consisting of a child with a developmental disorder and both unaffected parents * Absence of etiology after clinical expertise and genetic testing * Indication of a genome-wide sequencing analysis * Child from spontaneous pregnancy without ovulation stimulation treatment * Availability of DNA blood samples * Affiliation to a social insurance * Patient or patient's legal representative who has read and understood the information letter and has signed the consent form Exclusion Criteria: * Lack of indication for a genome-wide analysis in the proband * Etiology of the developmental disorder already identified * Proband born after In-Vitro Fertilization * Impossibility of non-invasive sperm collection from the father
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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.