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OpenTrials
Completed

NCT Number: NCT02862808

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

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

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Key information

Conditions

Severe Intellectual Disability Intellectual Disability Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Pathological Conditions, Signs and Symptoms Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Besancon

Besançon, 25000, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Number of patients with a molecular diagnostic and diagnostic yield

    Time frame: up to 12 months

Secondary outcomes

  1. Cost/diagnostic ratio in comparison with conventional techniques

    Time frame: up to 12 months

  2. Reporting time in comparison with conventional techniques

    Time frame: up to 12 months

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Besancon

Other

Registry information

Acronym: SHD-DI

Important dates

Study start
2019
Primary completion
2019
Study completion
2019
First posted
Aug 11, 2016
Registry last updated
Jul 22, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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