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

NCT02862808 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 18

Last updated 2020-07-22

No results posted yet for this study

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

Conditions

  • Severe Intellectual Disability

Sponsors & Collaborators

  • Centre Hospitalier Universitaire de Besancon

    lead OTHER

Principal Investigators

  • Paul Kuentz, MD · Centre Hospitalier Universitaire de Besancon

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-03-15
Primary Completion
2019-12-03
Completion
2019-12-03

Countries

  • France

Study Locations

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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 NCT02862808 on ClinicalTrials.gov