Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study (SHD-DI)

July 21, 2020 updated by: Centre Hospitalier Universitaire de Besancon
Evaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic counseling in this high risk of recurrence group of diseases

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

18

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
      • Besancon, France, 25000
        • CHU Besançon

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

Retrospectively included patients presenting severe intellectual disability without a molecular diagnosis, born from consanguineous parents and / or with intra-familial recurrence, whose parents are requesting for molecular diagnosis, in a context of deadlock with conventional techniques

Description

Inclusion Criteria:

  • Clinical diagnosis of syndromic or isolated severe intellectual disability (IQ <50) without a molecular diagnosis
  • Recurrence in siblings (multiplex families) suggesting autosomal recessive inheritance (with or without parental consanguinity) or sporadic cases from a consanguineous union
  • Conventional genetic tests performed (including array-CGH) and MRI/CT-scan available
  • DNA samples from parents and from both unaffected or affected siblings available, for parental segregation and confirmation of candidate variations identified.
  • Availability of a signed informed consent
  • To be affiliated or beneficiary of French social security/healthcare system

Exclusion Criteria:

  • Parents in the exclusion period of another study or as provided by the national register of volunteers
  • High-probability diagnostic hypothesis for which a molecular test is available at lower cost than exome sequencing

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

  • Observational Models: Case-Only
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of patients with a molecular diagnostic and diagnostic yield
Time Frame: up to 12 months
up to 12 months

Secondary Outcome Measures

Outcome Measure
Time Frame
Cost/diagnostic ratio in comparison with conventional techniques
Time Frame: up to 12 months
up to 12 months
Reporting time in comparison with conventional techniques
Time Frame: up to 12 months
up to 12 months

Collaborators and Investigators

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

Sponsor

Centre Hospitalier Universitaire de Besancon

Investigators

  • Principal Investigator: Paul Kuentz, MD, Centre Hospitalier Universitaire de Besançon

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)

March 15, 2019

Primary Completion (Actual)

December 3, 2019

Study Completion (Actual)

December 3, 2019

Study Registration Dates

First Submitted

August 8, 2016

First Submitted That Met QC Criteria

August 10, 2016

First Posted (Estimate)

August 11, 2016

Study Record Updates

Last Update Posted (Actual)

July 22, 2020

Last Update Submitted That Met QC Criteria

July 21, 2020

Last Verified

July 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • P/2015/242

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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