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Trial record 11 of 161 for:    Recruiting, Not yet recruiting, Available Studies | "Mental Retardation"

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

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.


Condition or disease Intervention/treatment
Intellectual Disability Genetic: gene analysis

Study Type : Observational
Estimated Enrollment : 8500 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Recherche et caractérisation de Nouveaux gènes impliqués Dans la déficience Intellectuelle.
Study Start Date : December 2012
Estimated Primary Completion Date : December 2022
Estimated Study Completion Date : December 2022


Group/Cohort Intervention/treatment
Intellectual disability
patients with intellectual disability or psycho-motor retardation and their parents and sibs (affected or not)
Genetic: gene analysis
gene analysis



Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. 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


Biospecimen Retention:   Samples With DNA
DNA RNA Plasma Urines


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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

Publications of Results:
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 ( Registry Identifier: IDRCB )
First Posted: June 4, 2013    Key Record Dates
Last Update Posted: December 7, 2016
Last Verified: December 2016

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
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Neurodevelopmental Disorders
Mental Disorders