Research and Characterization of New Genes Involved in Intellectual Disability

NCT ID: NCT01867554

Last Updated: 2025-01-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

8500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-12-31

Study Completion Date

2022-12-31

Brief Summary

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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

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Conditions

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Intellectual Disability

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Intellectual disability

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

gene analysis

Intervention Type GENETIC

gene analysis

Interventions

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gene analysis

gene analysis

Intervention Type GENETIC

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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

OTHER_GOV

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Alexis Brice, MD

Role: STUDY_DIRECTOR

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

Locations

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

Paris, , France

Site Status

Countries

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France

References

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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.

Reference Type BACKGROUND
PMID: 23092983 (View on PubMed)

Other Identifiers

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2012-A00936-37

Identifier Type: REGISTRY

Identifier Source: secondary_id

C12-06

Identifier Type: -

Identifier Source: org_study_id

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