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

Severe Intellectual Disability Clinical Trial

— SHD-DI  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02862808
• Other study ID #: P/2015/242
• Status: Completed
• Start date: March 15, 2019
• Est. completion date: December 3, 2019

Study information

• Verified date: July 2020
• Source: Centre Hospitalier Universitaire de Besancon
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 18
• Est. completion date: December 3, 2019
• Est. primary completion date: December 3, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Intellectual Disability
• Severe Intellectual Disability

Locations

Country	Name	City	State
France	CHU Besancon	Besancon

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Besancon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of patients with a molecular diagnostic and diagnostic yield		up to 12 months
Secondary	Cost/diagnostic ratio in comparison with conventional techniques		up to 12 months
Secondary	Reporting time in comparison with conventional techniques		up to 12 months