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

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2012 by Institut National de la Santé Et de la Recherche Médicale, France
Sponsor:
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier:
NCT01867554
First received: January 28, 2013
Last updated: June 3, 2013
Last verified: October 2012
  Purpose

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.


Condition Intervention
Intellectual Disability
Genetic: gene analysis

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Recherche et caractérisation de Nouveaux gènes impliqués Dans la déficience Intellectuelle.

Resource links provided by NLM:


Further study details as provided by Institut National de la Santé Et de la Recherche Médicale, France:

Primary Outcome Measures:
  • Number of participants with genetic cause identified [ Time Frame: 5 years ] [ Designated as safety issue: Yes ]
    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


Secondary Outcome Measures:
  • genotype-phenotype correlations [ Time Frame: genotype-phenotype correlations (according to the genes identified in a period of 5 years) ] [ Designated as safety issue: Yes ]
    Explore genotype-phenotype correlations when a new gene involved in intellectual disability will be identified


Biospecimen Retention:   Samples With DNA

DNA RNA Plasma Urines


Estimated Enrollment: 8500
Study Start Date: December 2012
Estimated Primary Completion Date: December 2022 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Intellectual disability
patients with intellectual disability or psycho-motor retardation and their parents and sibs (affected or not)
Genetic: gene analysis
gene analysis

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
  • 2500 patients with intellectuel disability
  • 5000 parents or unaffected sibs
  • 1000 affected sibs
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01867554

Contacts
Contact: Delphine Heron, MD +33 1 42 16 13 47 delphine.heron@psl.aphp.fr

Locations
France
CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière, Recruiting
Paris, France, 750013
Contact: Delphine Heron, MD    +33 1 42 16 13 47    delphine.heron@psl.aphp.fr   
Principal Investigator: Delphine Heron, MD         
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
Study Director: Alexis Brice, MD Institut National de la Santé Et de la Recherche Médicale, France
  More Information

Publications:
Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier: NCT01867554     History of Changes
Other Study ID Numbers: C12-06, 2012-A00936-37
Study First Received: January 28, 2013
Last Updated: June 3, 2013
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
Intellectual disability
Autism spectrum disorders
gene
Next generation sequencing

Additional relevant MeSH terms:
Intellectual Disability
Mental Disorders
Mental Disorders Diagnosed in Childhood
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Signs and Symptoms

ClinicalTrials.gov processed this record on November 25, 2014