Clinical Trial: Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
Brief Summary: Intellectual disability (ID) moderate or severe affects about one child in 250, with 3000 to 4000 new cases each year. Chromosomal or molecular pathology causes are not identified in half of the cases by current techniques. Studies show that de novo mutations are common in many different genes. The "exome" approach by high-throughput sequencing (NGS) has emerged as the technique of choice for identifying and comparing the exome of the child to the parent. We wish to evaluate this approach and its contribution in the diagnostic management of 50 patients with DI seen in genetics in 6 CHU Great West. Genomics platform IBISA / Biogenouest will provide technological and bioinformatics support this project.
Detailed Summary:
Sponsor: Nantes University Hospital
Current Primary Outcome: Number of patients for which a mutation responsible for the de novo patients DI has been identified [ Time Frame: 18 months ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
- Number of patients for whom the study of exomes revealed mutations in genes compatible with the mode of recessive autosomal recessive or X-linked chromosome [ Time Frame: 18 months ]
- Number of de novo mutations (loss of function, missense or indels) probably pathogens identified are not known to be involved in the DI genes. [ Time Frame: 18 months ]
Original Secondary Outcome: Same as current
Information By: Nantes University Hospital
Dates:
Date Received: May 9, 2014
Date Started: July 2014
Date Completion:
Last Updated: March 24, 2016
Last Verified: March 2016
