MedTrace Logo

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

NCT03644797 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 18

Last updated 2018-08-23

No results posted yet for this study

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.

Conditions

  • Intellectual Disability

Interventions

GENETIC

Exome sequencing

Detection of a second (likely) pathogenic molecular event on exome data for intellectual disability beyond the 16p13.11 Copy Number Variant.

Sponsors & Collaborators

  • Hospices Civils de Lyon

    lead OTHER

Principal Investigators

  • Nicolas CHATRON, MD · Hospices Civils de Lyon

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-09-30
Primary Completion
2018-12-31
Completion
2019-03-31

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03644797 on ClinicalTrials.gov