MedTrace Logo

Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic

NCT02136849 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 228

Last updated 2018-12-12

No results posted yet for this study

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.

Conditions

  • Severe Intellectual Disability

Sponsors & Collaborators

  • Nantes Genomics platform

    collaborator UNKNOWN

  • Nantes University Hospital

    lead OTHER

Principal Investigators

  • Stéphane Bézieau, Pr · Nantes University Hospital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-09-30
Primary Completion
2016-01-31
Completion
2016-01-31

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02136849 on ClinicalTrials.gov