Research and Characterization of New Genes Involved in Intellectual Disability
NCT ID: NCT01867554
Last Updated: 2025-01-23
Study Results
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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COMPLETED
8500 participants
OBSERVATIONAL
2012-12-31
2022-12-31
Brief Summary
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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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Detailed Description
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Conditions
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Study Design
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COHORT
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
gene analysis
Interventions
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gene analysis
gene analysis
Eligibility Criteria
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Inclusion Criteria
* for the unaffected sibs: to be aged at least 3 years
* informed consent
Exclusion Criteria
ALL
No
Sponsors
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Institut National de la Santé Et de la Recherche Médicale, France
OTHER_GOV
Responsible Party
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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
Countries
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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.
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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