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

Sponsor
Centre Hospitalier Universitaire de Besancon (Other)
Overall Status
Completed
CT.gov ID
NCT02862808
Collaborator
(none)
18
Enrollment
1
Location
8.6
Actual Duration (Months)
2.1
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    18 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Retrospective
    Official Title:
    Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
    Actual Study Start Date :
    Mar 15, 2019
    Actual Primary Completion Date :
    Dec 3, 2019
    Actual Study Completion Date :
    Dec 3, 2019

    Outcome Measures

    Primary Outcome Measures

    1. Number of patients with a molecular diagnostic and diagnostic yield [up to 12 months]

    Secondary Outcome Measures

    1. Cost/diagnostic ratio in comparison with conventional techniques [up to 12 months]

    2. Reporting time in comparison with conventional techniques [up to 12 months]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 CHU Besancon Besancon France 25000

    Sponsors and Collaborators

    • Centre Hospitalier Universitaire de Besancon

    Investigators

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

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Centre Hospitalier Universitaire de Besancon
    ClinicalTrials.gov Identifier:
    NCT02862808
    Other Study ID Numbers:
    • P/2015/242
    First Posted:
    Aug 11, 2016
    Last Update Posted:
    Jul 22, 2020
    Last Verified:
    Jul 1, 2020
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Keywords provided by Centre Hospitalier Universitaire de Besancon
    Whole exome sequencing
    Molecular diagnostic
    Genetic counselling
    Additional relevant MeSH terms:
    Intellectual Disability

    Study Results

    No Results Posted as of Jul 22, 2020