Research and Characterization of New Genes Involved in Intellectual Disability (GeneDefi)

June 1, 2026 updated by: Institut National de la Santé Et de la Recherche Médicale, France

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

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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

8500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 750013
        • CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière,

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

  • 2500 patients with intellectuel disability
  • 5000 parents or unaffected sibs
  • 1000 affected sibs

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Intellectual disability
patients with intellectual disability or psycho-motor retardation and their parents and sibs (affected or not)
Genetic: gene analysis
gene analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
genotype-phenotype correlations (according to the genes identified in a period of 5 years)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Investigators

  • Study Director: Alexis Brice, MD, Institut National de la Santé Et de la Recherche Médicale, France

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 31, 2012

Primary Completion (Actual)

December 31, 2022

Study Completion (Actual)

December 31, 2022

Study Registration Dates

First Submitted

January 28, 2013

First Submitted That Met QC Criteria

June 3, 2013

First Posted (Estimated)

June 4, 2013

Study Record Updates

Last Update Posted (Actual)

June 3, 2026

Last Update Submitted That Met QC Criteria

June 1, 2026

Last Verified

January 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • C12-06
  • 2012-A00936-37 (Registry Identifier: IDRCB)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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