Various Type of Genetic Events in Patients With Intellectual Disability

NCT02881333 | Unknown

• 1 other identifier: 6374
• Study Type: observational
• Target: 30
• Locations: 0 countries
• Sites: N/A

Brief 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.

Conditions

Intellectual Disability

Outcome Measures

Primary Outcomes (1)

• Detection of mutation from the CGH-array technology on 475 genes

  One year

Interventions

Blood samples GENETIC

Eligibility Criteria

• Age: 3 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

All patients with intellectual deficit without diagnosis

You may qualify if:

• Patients with developmental disabilities
• No etiologic diagnosis but suspected genetic cause
• Fragile X syndrome research negative

You may not qualify if:

• Children born to consanguineous couples
• Diagnosis already established or suspected
• Identification of an independent etiology

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

MeSH Terms

Conditions

Intellectual Disability

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Amélie Piton

CONTACT

amélie.piton@chru-strasbourg.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 16, 2016
• First Posted: August 26, 2016
• Study Start: September 1, 2016
• Primary Completion: September 1, 2017
• Study Completion: December 1, 2017
• Last Updated: August 26, 2016

Record last verified: 2016-08

Data Sharing

• IPD Sharing: Will not share