New DNA mapping technique may solve mystery birth defects
NCT ID NCT07370792
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tests a new genetic technique called optical genome mapping (OGM) to find hidden DNA changes in children with multiple birth defects and intellectual disability. Standard genetic tests have already failed to find a cause for these children. Researchers will collect a blood sample from 55 participants and use OGM to look for structural variants that other methods miss. If it works, OGM could become a routine diagnostic tool to give families answers.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- blood sample for optical genome mapping
- What this could lead to
- If successful, this could improve genetic diagnosis for children with multiple birth defects, helping families get answers and better medical management.
- What could go wrong
- This is a small, early-stage study with only 55 participants. The technique may not find new genetic causes, and results may not apply to all patients.
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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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CHU clermont-Ferrand
RECRUITINGClermont-Ferrand, France