Status:
NOT_YET_RECRUITING
Quantitative Assessment of the Etiologies of Megalencephaly Associated With a Detectable Tumor Risk
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Megalocephaly
Eligibility:
All Genders
Brief Summary
This study will show the value of early genetic diagnosis in the case of MEG in a child and may lead to recommendations aimed at preventing tumor risk based on a simple and easily accessible clinical ...
Detailed Description
During paediatric follow-up, head circumference (CP) measurement can detect severe macrocephaly (CP ≥ +3 SD) in 1% of the population, in individuals with or without neurodevelopmental disorder (NDD). ...
Eligibility Criteria
Inclusion
- Patients with macrocephaly ≥ +3 DS due to brain MRI-confirmed MEG with or without NDD
- Patient with a proposal to investigate a genetic etiology by genome sequencing
- No objection by the patient's parents or guardians
- Patients affiliated to a social security scheme
Exclusion
- Patients with an etiological diagnosis of its MEG
- Patients who have previously undergone genetic testing as part of their MEG, with or without a diagnosis
- Patients who have not received the standard-of-care genetic analysis, specifically whole genome sequencing
Key Trial Info
Start Date :
September 1 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 1 2027
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT07142772
Start Date
September 1 2025
End Date
September 1 2027
Last Update
August 27 2025
Active Locations (1)
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1
service Génétique clinique Pitié-Salpêtrière / Trousseau
Paris, France, 75013