Targeted Next Generation Sequencing and Intellectual Disability

NCT02889068 | Completed

• 1 other identifier: PSS2014/NGSDI-BONNET/NK
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities. In other words, it concerns the number of patients whose etiologic diagnosis will be established with NGS and could not with common techniques. Actually, the molecular etiology of intellectual disability is crucial to calculate the risk of recurrence and allows the perinatal diagnosis to these families. Secondary purposes are:

1. 1.To determine the place of NGS in the strategy of etiologic diagnosis of intellectual disability, to determine the order of analyses performed for a patient with intellectual disability without clinical signs.
2. 2.To evaluate the number of variants with unknown significance and thus non-usable for genetic counselling without supplementary analysis.
3. 3.To determine the number of samples that can be at most pooled keeping a good efficacy of capture and results with suitable read depth
4. 4.To determine the possibility of detecting copy number variations (CNVs) in genes of interest with NGS
5. 5.To establish genotype/phenotype correlations for each gene for which a mutation has been identified
6. 6.To optimize the software pipelining for a rapid analysis for diagnosis.

Conditions

Intellectual Disability

Outcome Measures

Primary Outcomes (1)

• Percentage of patients with certain etiologic diagnosis established with NGS

  day 0

Secondary Outcomes (6)

• Percentage of patients with etiologic diagnosis established with NGS or with other techniques (array-CGH)

  day 0

• Obtained read depth according to number of pooled samples

  day 0

• Percentage of patients with variant with unknown significance, needing supplementary analyses to prove its involvement in intellectual disability

  day 0

• CNVs detected with NGS or array-CGH (reference technique for CNV detection).

  day 0

• Clinical phenotype for each gene for which a causal mutation is identified by NGS

  day 0

Study Arms (1)

Intellectual disability

Other: Blood sample

Interventions

Blood sample OTHER

Intellectual disability

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

Patients with severe to moderate intellectual disability, with syndrome or not.

You may qualify if:

• Moderate or severe intellectual disability
• Availability of patient and parent DNA
• No etiologic diagnosis with standard approaches: negative fragile X, normal pangenomic 180K and 1M array-CGH
• Informed consent of person having parental authority

You may not qualify if:

• Non availability of parent DNA
• Patient lost to follow-up

Sponsors & Collaborators

• Central Hospital, Nancy, France: lead

Study Sites (1)

Chru Nancy

Vandœuvre-lès-Nancy, 54511, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Frozen DNA from blood

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

Study Officials

• Céline BONNET

  CHRU de Nancy Laboratoire de Génétique Hôpitaux de Brabois

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: August 31, 2016
• First Posted: September 5, 2016
• Study Start: July 1, 2015
• Primary Completion: September 30, 2016
• Study Completion: January 30, 2017
• Last Updated: July 28, 2017

Record last verified: 2017-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)