Research and Characterization of New Genes Involved in Intellectual Disability

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.

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Key information

Conditions

Intellectual Disability Autism Spectrum Disorder Child Development Disorders, Pervasive Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Pathological Conditions, Signs and Symptoms Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Paris, 750013, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

gene analysis

Genetic

gene analysis

Primary outcomes

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

Secondary outcomes

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

Sponsors and collaborators

Lead sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Other Gov

Registry information

Official study title

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

Acronym: GeneDefi

Important dates

Study start: 2012
Primary completion: 2022
Study completion: 2022
First posted: Jun 4, 2013
Registry last updated: Jun 3, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed