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

Completed

• Conditions: Severe Intellectual Disability

• Registration Number: NCT02862808
• Lead Sponsor: Centre Hospitalier Universitaire de Besancon

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

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2016-08-08
• Study First Submitted QC: 2016-08-10
• Study First Posted: 2016-08-11
• Study Start: 2019-03-15
• Primary Completion: 2019-12-03
• Study Completion: 2019-12-03
• Status Verified: 2020-07
• Last Update Submitted: 2020-07-21
• Last Update Posted: 2020-07-22

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 18

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of patients with a molecular diagnostic and diagnostic yield	up to 12 months

Secondary Outcome Measures

Name	Time	Method
Cost/diagnostic ratio in comparison with conventional techniques	up to 12 months
Reporting time in comparison with conventional techniques	up to 12 months

Trial Locations

Locations (1)

CHU Besancon; 🇫🇷 Besancon, France