Clinical Trials Logo
  1. Home
  2. Intellectual Disability
  3. NCT01867554
  4. Details
NCT01867554 Clinical Trial

Research and Characterization of New Genes Involved in Intellectual Disability

Intellectual Disability Clinical Trial

— GeneDefi  

Official title:
Recherche et caractérisation de Nouveaux gènes impliqués Dans la déficience Intellectuelle.

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT01867554
Other study ID # C12-06
Secondary ID 2012-A00936-37
Status Recruiting
Phase N/A
First received January 28, 2013
Last updated December 6, 2016
Start date December 2012
Est. completion date December 2022

Study information
Verified date December 2016
Source Institut National de la Santé Et de la Recherche Médicale, France
Contact Delphine Heron, MD
Phone +33 1 42 16 13 47
Email delphine.heron@psl.aphp.fr
Is FDA regulated No
Health authority France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
Study type Observational

Clinical Trial 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.

Recruitment information / eligibility
Status Recruiting
Enrollment 8500
Est. completion date December 2022
Est. primary completion date December 2022
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility 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

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

Intervention

Genetic:
• gene analysis
gene analysis

Locations
Country Name City State
France CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière, Paris

Sponsors (1)
Lead Sponsor Collaborator
Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

References & Publications (1)

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 — View Citation

Outcome
Type Measure Description Time frame Safety issue
Primary Number of participants with genetic cause identified 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 5 years Yes
Secondary genotype-phenotype correlations Explore genotype-phenotype correlations when a new gene involved in intellectual disability will be identified genotype-phenotype correlations (according to the genes identified in a period of 5 years) Yes
See also
  Status Clinical Trial Phase
Recruiting NCT05935722 - Evaluation of a Home-based Parenting Support Program: Parenting Young Children N/A
Completed NCT04020302 - Self-Monitoring Shopping Intervention N/A
Active, not recruiting NCT03548779 - North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 N/A
Completed NCT03722212 - Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test N/A
Not yet recruiting NCT03644797 - Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
Completed NCT03139760 - POWERSforID: A Telehealth Weight Management System for Adults With Intellectual Disability N/A
Not yet recruiting NCT02881333 - Various Type of Genetic Events in Patients With Intellectual Disability N/A
Completed NCT02746614 - Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability N/A
Completed NCT06097819 - Therapy-Based Games' Effects on Motor and Cognitive Skills in Intellectual Disabilities N/A
Recruiting NCT05767203 - Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin N/A
Terminated NCT05445596 - Improving Treatment for Children With Intellectual and Developmental Disabilities and Problem Behavior in Schools N/A
Recruiting NCT05131425 - Facing Your Fears: Adolescents With ASD and Intellectual Disability N/A
Completed NCT04436692 - Dietary Intervention and Adults With Intellectual Disabilities N/A
Completed NCT04518358 - Expert Guiding Technology to Help Individuals With Developmental Challenges Build Life and Vocational Skills N/A
Completed NCT04917666 - Process and Outcomes of Horticultural Therapy for People With Disabilities N/A
Completed NCT04554355 - Effects of a PA Intervention for Fatness and Fitness in Adolescents With Intellectual Disability N/A
Completed NCT04277130 - Effectiveness of Active Video Games in Children With Intellectual Disabilities N/A
Enrolling by invitation NCT02914951 - Cognitive-Behavioral Therapy for Irritability in Children With Autism Spectrum Disorder and Intellectual Disability N/A
Completed NCT02591446 - Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders N/A
Completed NCT03989388 - Occupational Self-Analysis Programme N/A