Clinical Trials Logo

Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT02889068
Other study ID # PSS2014/NGSDI-BONNET/NK
Secondary ID
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
Health authority
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

Study Design


Related Conditions & MeSH terms


Intervention

Other:
Blood sample


Locations

Country Name City State
France Chru Nancy VandÅ“uvre-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
See also
  Status Clinical Trial Phase
Recruiting NCT05935722 - Evaluation of a Home-based Parenting Support Program: Parenting Young Children N/A
Completed NCT04020302 - Self-Monitoring Shopping Intervention N/A
Active, not recruiting NCT03548779 - North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 N/A
Completed NCT03722212 - Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test N/A
Not yet recruiting NCT03644797 - Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
Not yet recruiting NCT02881333 - Various Type of Genetic Events in Patients With Intellectual Disability N/A
Completed NCT03139760 - POWERSforID: A Telehealth Weight Management System for Adults With Intellectual Disability N/A
Completed NCT02746614 - Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability N/A
Completed NCT06097819 - Therapy-Based Games' Effects on Motor and Cognitive Skills in Intellectual Disabilities N/A
Recruiting NCT05767203 - Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin N/A
Terminated NCT05445596 - Improving Treatment for Children With Intellectual and Developmental Disabilities and Problem Behavior in Schools N/A
Recruiting NCT05131425 - Facing Your Fears: Adolescents With ASD and Intellectual Disability N/A
Completed NCT04436692 - Dietary Intervention and Adults With Intellectual Disabilities N/A
Completed NCT04518358 - Expert Guiding Technology to Help Individuals With Developmental Challenges Build Life and Vocational Skills N/A
Completed NCT04917666 - Process and Outcomes of Horticultural Therapy for People With Disabilities N/A
Completed NCT04554355 - Effects of a PA Intervention for Fatness and Fitness in Adolescents With Intellectual Disability N/A
Completed NCT04277130 - Effectiveness of Active Video Games in Children With Intellectual Disabilities N/A
Enrolling by invitation NCT02914951 - Cognitive-Behavioral Therapy for Irritability in Children With Autism Spectrum Disorder and Intellectual Disability N/A
Completed NCT02304302 - Down Syndrome Memantine Follow-up Study Phase 2
Completed NCT03989388 - Occupational Self-Analysis Programme N/A