Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs

Hospices Civils de Lyon1 site in 1 country18 target enrollmentSeptember 2018

ConditionsIntellectual Disability

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Intellectual Disability
Sponsor: Hospices Civils de Lyon
Enrollment: 18
Locations: 1
Primary Endpoint: Second pathogenic molecular event on exome data
Last Updated: 7 years ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

Brief Summary

16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies.

Registry

clinicaltrials.gov

Start Date

September 2018

End Date

March 2019

Last Updated

7 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Hospices Civils de Lyon

Responsible Party

Sponsor

Eligibility Criteria

Inclusion Criteria

•Patients presenting intellectual disability
•Patients carrying a 16p13.11 copy number variant
•Blood DNA available without re sampling for the patient and his parents.
•Consent for genetics analysis already for the patient and his parents.

Exclusion Criteria

•Other diagnosis for intellectual disability (apart 16p13.11 copy number variant) already posed

Outcomes

Primary Outcomes

Second pathogenic molecular event on exome data

Time Frame: 4 months

Number of participants diagnosed as carrier of a (likely) pathogenic variation beyond 16p13.11 CNV through exome sequencing according to ACMG 2015 guidelines