Targeted Next Generation Sequencing and Intellectual Disability (NGS-DI)

July 27, 2017 updated by: Central Hospital, Nancy, France

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

40

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Vandœuvre-lès-Nancy, France, 54511
        • CHRU Nancy

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with severe to moderate intellectual disability, with syndrome or not.

Description

Inclusion Criteria:

  • Moderate or severe intellectual disability
  • Availability of patient and parent DNA
  • No etiologic diagnosis with standard approaches: negative fragile X, normal pangenomic 180K and 1M array-CGH
  • Informed consent of person having parental authority

Exclusion Criteria:

  • Non availability of parent DNA
  • Patient lost to follow-up

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Intellectual disability
Other: Blood sample

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Percentage of patients with certain etiologic diagnosis established with NGS
Time Frame: day 0
day 0

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Central Hospital, Nancy, France

Investigators

  • Principal Investigator: Céline BONNET, CHRU de Nancy Laboratoire de Génétique Hôpitaux de Brabois

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2015

Primary Completion (Actual)

September 30, 2016

Study Completion (Actual)

January 30, 2017

Study Registration Dates

First Submitted

August 31, 2016

First Submitted That Met QC Criteria

August 31, 2016

First Posted (Estimate)

September 5, 2016

Study Record Updates

Last Update Posted (Actual)

July 28, 2017

Last Update Submitted That Met QC Criteria

July 27, 2017

Last Verified

July 1, 2017

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PSS2014/NGSDI-BONNET/NK

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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