Targeted Next Generation Sequencing and Intellectual Disability

Intellectual Disability Clinical Trial

— NGS-DI  

Official title:

Targeted Next Generation Sequencing and Intellectual Disability

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02889068
• Other study ID #: PSS2014/NGSDI-BONNET/NK
• Status: Completed
• Phase: N/A
• First received: August 31, 2016
• Last updated: July 27, 2017
• Start date: July 2015
• Est. completion date: January 30, 2017

Study information

• Verified date: July 2017
• Source: Central Hospital, Nancy, France
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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. 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. To evaluate the number of variants with unknown significance and thus non-usable for genetic counselling without supplementary analysis.

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. To determine the possibility of detecting copy number variations (CNVs) in genes of interest with NGS

5. To establish genotype/phenotype correlations for each gene for which a mutation has been identified

6. To optimize the software pipelining for a rapid analysis for diagnosis.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 40
• Est. completion date: January 30, 2017
• Est. primary completion date: September 30, 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• 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

Exclusion Criteria:

• Non availability of parent DNA

• Patient lost to follow-up

Related Conditions & MeSH terms

• Intellectual Disability

Intervention

Other:
• Blood sample

Locations

Country	Name	City	State
France	Chru Nancy	Vandœuvre-lès-Nancy

Sponsors (1)

Lead Sponsor	Collaborator
Central Hospital, Nancy, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Percentage of patients with certain etiologic diagnosis established with NGS		day 0
Secondary	Percentage of patients with etiologic diagnosis established with NGS or with other techniques (array-CGH)		day 0
Secondary	Obtained read depth according to number of pooled samples		day 0
Secondary	Percentage of patients with variant with unknown significance, needing supplementary analyses to prove its involvement in intellectual disability		day 0
Secondary	CNVs detected with NGS or array-CGH (reference technique for CNV detection).		day 0
Secondary	Clinical phenotype for each gene for which a causal mutation is identified by NGS		day 0
Secondary	Time of analysis of NGS raw data		day 0