Research and Characterization of New Genes Involved in Intellectual Disability

Institut National de la Santé Et de la Recherche Médicale, France8,500 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

8,500

Conditions

Intellectual Disability

Interventions

gene analysisGENETIC

gene analysis

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * for the patients: Clinical diagnosis of intellectual disbility * for the unaffected sibs: to be aged at least 3 years * informed consent Exclusion Criteria: * absence of informed consent

Locations (1)

CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière,

Paris, France

Outcomes

Primary Outcomes

Number of participants with genetic cause identified

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

Time frame: 5 years

Secondary Outcomes

genotype-phenotype correlations

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

Time frame: genotype-phenotype correlations (according to the genes identified in a period of 5 years)

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.