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NCT01867554 Clinical Trial

Research and Characterization of New Genes Involved in Intellectual Disability

Intellectual Disability Clinical Trial

— GeneDefi  

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

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT01867554
Other study ID # C12-06
Secondary ID 2012-A00936-37
Status Recruiting
Phase N/A
First received January 28, 2013
Last updated December 6, 2016
Start date December 2012
Est. completion date December 2022

Study information
Verified date December 2016
Source Institut National de la Santé Et de la Recherche Médicale, France
Contact Delphine Heron, MD
Phone +33 1 42 16 13 47
Email delphine.heron@psl.aphp.fr
Is FDA regulated No
Health authority France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
Study type Observational

Clinical Trial 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.

Recruitment information / eligibility
Status Recruiting
Enrollment 8500
Est. completion date December 2022
Est. primary completion date December 2022
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility 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 Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

Intervention

Genetic:
• gene analysis
gene analysis

Locations
Country Name City State
France CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière, Paris

Sponsors (1)
Lead Sponsor Collaborator
Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

References & Publications (1)

Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R — View Citation

Outcome
Type Measure Description Time frame Safety issue
Primary 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 Yes
Secondary genotype-phenotype correlations 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) Yes
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