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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Page 1 of 1 (1 locations)

1

Robert Debré Hospital

Paris, Paris, France, 75019