Status:
RECRUITING
The Contribution of Optical Mapping to the Characterization of Chromosomal Rearrangements in Patients With Neurodevelopmental Disorders
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Anomalies Chromosome
Eligibility:
All Genders
2+ years
Brief Summary
In neurodevelomental disorders, duplications are genomic variations that are difficult to interpret because their orientation cannot be defined by conventional techniques (ACPA and FISH). However, the...
Detailed Description
Neurodevelopmental disorders (NDD) affect almost 10% of the general population, and encompass a very broad spectrum of manifestations linked to an abnormality in brain development. They include intell...
Eligibility Criteria
Inclusion
- Patients: children aged 2 and over at the time of inclusion (and up to 20 years of age)
- Patients followed at Robert Debré for TND who, as part of their care,
- who have undergone chromosomal analysis by DNA microarray (ACPA) which has identified a chromosomal abnormality of difficult interpretation (duplication or complex rearrangement).
Exclusion
- Patients without medical insurance
Key Trial Info
Start Date :
July 12 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
August 19 2025
Estimated Enrollment :
105 Patients enrolled
Trial Details
Trial ID
NCT07133789
Start Date
July 12 2022
End Date
August 19 2025
Last Update
August 21 2025
Active Locations (1)
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1
Robert Debré Hospital
Paris, Paris, France, 75019