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Various Type of Genetic Events in Patients With Intellectual Disability (CNV-Seq)

This study is not yet open for participant recruitment. (see Contacts and Locations)
Verified August 2016 by University Hospital, Strasbourg, France
Information provided by (Responsible Party):
University Hospital, Strasbourg, France Identifier:
First received: August 16, 2016
Last updated: August 23, 2016
Last verified: August 2016
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.

Condition Intervention
Intellectual Disability
Genetic: Blood samples

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Evaluation of Tools for the Simultaneous Detection of Point and Structural Mutations in Patients With Intellectual Disability

Resource links provided by NLM:

Further study details as provided by University Hospital, Strasbourg, France:

Primary Outcome Measures:
  • Detection of mutation from the CGH-array technology on 475 genes [ Time Frame: One year ] [ Designated as safety issue: No ]

Estimated Enrollment: 30
Study Start Date: September 2016
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: September 2017 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   3 Years to 75 Years   (Child, Adult, Senior)
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All patients with intellectual deficit without diagnosis

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02881333

Contact: Amélie Piton amé

Sponsors and Collaborators
University Hospital, Strasbourg, France
  More Information

Responsible Party: University Hospital, Strasbourg, France Identifier: NCT02881333     History of Changes
Other Study ID Numbers: 6374 
Study First Received: August 16, 2016
Last Updated: August 23, 2016
Health Authority: France: Ministère de l'Enseignement supérieur et de la Recherche
Individual Participant Data  
Plan to Share IPD: No

Additional relevant MeSH terms:
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Neurodevelopmental Disorders
Mental Disorders processed this record on August 25, 2016