Research and Characterization of New Genes Involved in Intellectual Disability
- Conditions
- Intellectual Disability
- Registration Number
- NCT01867554
- Lead Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
- 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 Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 8500
- for the patients: Clinical diagnosis of intellectual disbility
- for the unaffected sibs: to be aged at least 3 years
- informed consent
- absence of informed consent
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Number of participants with genetic cause identified 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
- Secondary Outcome Measures
Name Time Method genotype-phenotype correlations 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
Trial Locations
- Locations (1)
CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière,
🇫🇷Paris, France
CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière,🇫🇷Paris, France