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

NCT03644797 | Unknown

• 1 other identifier: 69HCL17_0693
• Study Type: observational
• Target: 18
• Locations: 1 country
• Sites: 1

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.

Conditions

Intellectual Disability

Outcome Measures

Primary Outcomes (1)

• Second pathogenic molecular event on exome data

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

  4 months

Study Arms (1)

Patients

Patients presenting intellectual disability and previously diagnosed as carriers of a 16p13.11 copy number variant using Cytogenetic Micro Array.

Genetic: Exome sequencing

Interventions

Exome sequencing GENETIC

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

Patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients presenting intellectual disability and carrying a 16p13.11 copy number variant.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Hôpital Femme Mère Enfant (Groupement Hospitalier Est)

Bron, France

Location

MeSH Terms

Conditions

Intellectual Disability

Interventions

Exome Sequencing

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Whole Genome Sequencing; Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Nicolas CHATRON, MD

  Hospices Civils de Lyon

  STUDY DIRECTOR

Central Study Contacts

Nicolas CHATRON, MD

CONTACT

0472129697; nicolas.chatron@chu-lyon.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 5, 2018
• First Posted: August 23, 2018
• Study Start: September 1, 2018
• Primary Completion: December 1, 2018
• Study Completion: March 1, 2019
• Last Updated: August 23, 2018

Record last verified: 2018-08

Locations

FR (1)