Clinical Trial: Research and Characterization of New Genes Involved in Intellectual Disability

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Recherche et caractérisation de Nouveaux gènes impliqués Dans la déficience Intellectuelle.

Brief Summary:

Intellectual disability (ID) occurs in 2 to 3 % of the general population but the cause is identified only in 30 to 60% of cases.

The purpose of this study is to indentify genes involved in ID with new genetics tools (SNP-arrays, next generation sequencing...) and establish genotype-phenotype correlations.


Detailed Summary:
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

Current Primary Outcome: Number of participants with genetic cause identified [ Time Frame: 5 years ]

Number of participants for which the causative gene of intellectual disability will be identified and number of genes involved in intellectual disability identified with new technologies including microarray and next generation sequencing


Original Primary Outcome: Same as current

Current Secondary Outcome: genotype-phenotype correlations [ Time Frame: genotype-phenotype correlations (according to the genes identified in a period of 5 years) ]

Explore genotype-phenotype correlations when a new gene involved in intellectual disability will be identified


Original Secondary Outcome: Same as current

Information By: Institut National de la Santé Et de la Recherche Médicale, France

Dates:
Date Received: January 28, 2013
Date Started: December 2012
Date Completion: December 2022
Last Updated: December 6, 2016
Last Verified: December 2016