Research and Characterization of New Genes Involved in Intellectual Disability

NCT01867554 | Completed

• 2 other identifiers: C12-062012-A00936-37
• Study Type: observational
• Target: 8,500
• Locations: 1 country
• Sites: 1

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.

Conditions

Intellectual Disability

Keywords

Intellectual disability; Autism spectrum disorders; gene; Next generation sequencing

Outcome Measures

Primary Outcomes (1)

• 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

  5 years

Secondary Outcomes (1)

• genotype-phenotype correlations

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

Study Arms (1)

Intellectual disability

patients with intellectual disability or psycho-motor retardation and their parents and sibs (affected or not)

Genetic: gene analysis

Interventions

gene analysis GENETIC

gene analysis

Intellectual disability

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• for the patients: Clinical diagnosis of intellectual disbility
• for the unaffected sibs: to be aged at least 3 years
• informed consent

You may not qualify if:

• absence of informed consent

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

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

Paris, 750013, France

Location

Related Publications (1)

• Nava C, Lamari F, Heron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Perisse D, Laurent C, Dupuits C, Gautier C, Gerard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transl Psychiatry. 2012 Oct 23;2(10):e179. doi: 10.1038/tp.2012.102.

  PMID: 23092983 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

DNA RNA Plasma Urines

MeSH Terms

Conditions

Intellectual Disability; Autism Spectrum Disorder

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders; Child Development Disorders, Pervasive

Study Officials

• Alexis Brice, MD

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

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 28, 2013
• First Posted: June 4, 2013
• Study Start: December 31, 2012
• Primary Completion: December 31, 2022
• Study Completion: December 31, 2022
• Last Updated: January 23, 2025

Record last verified: 2025-01

Locations

FR (1)