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

I

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

Status

Unknown

Conditions

Intellectual Disability

Treatments

Genetic: gene analysis

Study type

Observational

Funder types

Other

Identifiers

NCT01867554
2012-A00936-37 (Registry Identifier)
C12-06

Details and patient eligibility

About

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.

Enrollment

8,500 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

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

Trial design

8,500 participants in 1 patient group

Intellectual disability
Description:
patients with intellectual disability or psycho-motor retardation and their parents and sibs (affected or not)
Treatment:
Genetic: gene analysis

Trial contacts and locations

1

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Central trial contact

Delphine Heron, MD

Data sourced from clinicaltrials.gov

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