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

NCT02862808 | Completed

• 1 other identifier: P/2015/242
• Study Type: observational
• Target: 18
• Locations: 1 country
• Sites: 1

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

Conditions

Severe Intellectual Disability

Keywords

Whole exome sequencing; Molecular diagnostic; Genetic counselling

Outcome Measures

Primary Outcomes (1)

• Number of patients with a molecular diagnostic and diagnostic yield

  up to 12 months

Secondary Outcomes (2)

• Cost/diagnostic ratio in comparison with conventional techniques

  up to 12 months

• Reporting time in comparison with conventional techniques

  up to 12 months

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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

You may not qualify if:

• High-probability diagnostic hypothesis for which a molecular test is available at lower cost than exome sequencing

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Besancon: lead

Study Sites (1)

CHU Besancon

Besançon, 25000, France

Location

MeSH Terms

Conditions

Intellectual Disability

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Paul Kuentz, MD

  Centre Hospitalier Universitaire de Besancon

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 8, 2016
• First Posted: August 11, 2016
• Study Start: March 15, 2019
• Primary Completion: December 3, 2019
• Study Completion: December 3, 2019
• Last Updated: July 22, 2020

Record last verified: 2020-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)