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NCT03644797 Clinical Trial

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

Intellectual Disability Clinical Trial

— SEESIC  

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data
NCT number NCT03644797
Other study ID # 69HCL17_0693
Secondary ID
Status Not yet recruiting
Phase
First received
Last updated
Start date September 2018
Est. completion date March 2019

Study information
Verified date August 2018
Source Hospices Civils de Lyon
Contact Nicolas CHATRON, MD
Phone 0472129697
Email nicolas.chatron@chu-lyon.fr
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.

Recruitment information / eligibility
Status Not yet recruiting
Enrollment 18
Est. completion date March 2019
Est. primary completion date December 2018
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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

Study Design

Related Conditions & MeSH terms

Intervention

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

Locations
Country Name City State
France Hôpital Femme Mère Enfant (Groupement Hospitalier Est) Bron

Sponsors (1)
Lead Sponsor Collaborator
Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome
Type Measure Description Time frame Safety issue
Primary 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
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