Clinical Trial: Targeted Next Generation Sequencing and Intellectual Disability

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

Official Title: Targeted Next Generation Sequencing and Intellectual Disability

Brief Summary:

The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities. In other words, it concerns the number of patients whose etiologic diagnosis will be established with NGS and could not with common techniques. Actually, the molecular etiology of intellectual disability is crucial to calculate the risk of recurrence and allows the perinatal diagnosis to these families.

Secondary purposes are:

  1. To determine the place of NGS in the strategy of etiologic diagnosis of intellectual disability, to determine the order of analyses performed for a patient with intellectual disability without clinical signs.
  2. To evaluate the number of variants with unknown significance and thus non-usable for genetic counselling without supplementary analysis.
  3. To determine the number of samples that can be at most pooled keeping a good efficacy of capture and results with suitable read depth
  4. To determine the possibility of detecting copy number variations (CNVs) in genes of interest with NGS
  5. To establish genotype/phenotype correlations for each gene for which a mutation has been identified
  6. To optimize the software pipelining for a rapid analysis for diagnosis.

Detailed Summary:
Sponsor: Central Hospital, Nancy, France

Current Primary Outcome: Percentage of patients with certain etiologic diagnosis established with NGS [ Time Frame: day 0 ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Percentage of patients with etiologic diagnosis established with NGS or with other techniques (array-CGH) [ Time Frame: day 0 ]
  • Obtained read depth according to number of pooled samples [ Time Frame: day 0 ]
  • Percentage of patients with variant with unknown significance, needing supplementary analyses to prove its involvement in intellectual disability [ Time Frame: day 0 ]
  • CNVs detected with NGS or array-CGH (reference technique for CNV detection). [ Time Frame: day 0 ]
  • Clinical phenotype for each gene for which a causal mutation is identified by NGS [ Time Frame: day 0 ]
  • Time of analysis of NGS raw data [ Time Frame: day 0 ]


Original Secondary Outcome: Same as current

Information By: Central Hospital, Nancy, France

Dates:
Date Received: August 31, 2016
Date Started: July 2015
Date Completion: December 2016
Last Updated: August 31, 2016
Last Verified: August 2016