Various Type of Genetic Events in Patients With Intellectual Disability

Intellectual Disability Clinical Trial

— CNV-Seq  

Official title:

Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT02881333
• Other study ID #: 6374
• Status: Not yet recruiting
• Phase: N/A
• First received: August 16, 2016
• Last updated: August 23, 2016
• Start date: September 2016
• Est. completion date: December 2017

Study information

• Verified date: August 2016
• Source: University Hospital, Strasbourg, France
• Contact: Amélie Piton
• Email: amélie.piton[@]chru-strasbourg.fr
• Is FDA regulated: No
• Health authority: France: Ministère de l'Enseignement supérieur et de la Recherche
• Study type: Observational

Clinical Trial Summary

Currently, for a patient with intellectual disability without a recognizable syndrome (most cases), the way to diagnosis is often long, tedious and expensive because different approaches are used one after the other to identify structural variants (duplications, deletions and other) and point mutations (sequencing of one or more candidate genes). The development of high-throughput sequencing techniques (next generation sequencing: NGS) has drastically increased the detection of point mutations offering the possibility to test a large number of genes simultaneously. NGS also shows a huge potential in detecting structural variants. The objective of this research is to assess the sensitivity of a simultaneous detection of point mutations and structural variants by NGS approaches. This would bring together in a single step the equivalent of performing an array-Comparative genomic hybridization (CGH) analysis plus performing a targeted sequencing of candidate genes. Investigators will compare two approaches for this simultaneous detection: a targeted enrichment of candidate genes coding regions using probes covering these regions associated with a backbone of genomic probes, an approach that could be implemented immediately in diagnostic at the hospital, and a whole genome sequencing (WGS), that is currently a too expensive tool for routine diagnosis but that should be the approach used in the future. Investigators will compare these two approaches to the traditional one: CGH array + WGS. The implementation of a "one step" strategy to detect both types of mutations (punctual and structural) would accelerate and improve the access of patients to a molecular diagnosis.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 30
• Est. completion date: December 2017
• Est. primary completion date: September 2017
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 3 Years to 75 Years

Eligibility

Inclusion Criteria:

• Patients with developmental disabilities

• No etiologic diagnosis but suspected genetic cause

• Fragile X syndrome research negative

Exclusion Criteria:

• Children born to consanguineous couples

• Diagnosis already established or suspected

• Identification of an independent etiology

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Intellectual Disability

Intervention

Genetic:
• Blood samples

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Detection of mutation from the CGH-array technology on 475 genes		One year	No