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

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ClinicalTrials.gov Identifier: NCT01867554
Recruitment Status : Recruiting
First Posted : June 4, 2013
Last Update Posted : December 7, 2016
Sponsor:
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France

Tracking Information
First Submitted Date January 28, 2013
First Posted Date June 4, 2013
Last Update Posted Date December 7, 2016
Study Start Date December 2012
Estimated Primary Completion Date December 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 3, 2013)
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
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: June 3, 2013)
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
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Research and Characterization of New Genes Involved in Intellectual Disability
Official Title Recherche et caractérisation de Nouveaux gènes impliqués Dans la déficience Intellectuelle.
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.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
DNA RNA Plasma Urines
Sampling Method Non-Probability Sample
Study Population
  • 2500 patients with intellectuel disability
  • 5000 parents or unaffected sibs
  • 1000 affected sibs
Condition Intellectual Disability
Intervention Genetic: gene analysis
gene analysis
Study Groups/Cohorts Intellectual disability
patients with intellectual disability or psycho-motor retardation and their parents and sibs (affected or not)
Intervention: Genetic: gene analysis
Publications * 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, 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:e179. doi: 10.1038/tp.2012.102.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: June 3, 2013)
8500
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2022
Estimated Primary Completion Date December 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Delphine Heron, MD +33 1 42 16 13 47 delphine.heron@psl.aphp.fr
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT01867554
Other Study ID Numbers C12-06
2012-A00936-37 ( Registry Identifier: IDRCB )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Institut National de la Santé Et de la Recherche Médicale, France
Study Sponsor Institut National de la Santé Et de la Recherche Médicale, France
Collaborators Not Provided
Investigators
Study Director: Alexis Brice, MD Institut National de la Santé Et de la Recherche Médicale, France
PRS Account Institut National de la Santé Et de la Recherche Médicale, France
Verification Date December 2016