This trial is active, not recruiting.

Condition intellectual disability
Treatment blood sample
Sponsor Central Hospital, Nancy, France
Start date July 2015
End date December 2016
Trial size 40 participants
Trial identifier NCT02889068, PSS2014/NGSDI-BONNET/NK


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model cohort
Time perspective cross-sectional
blood sample

Primary Outcomes

Percentage of patients with certain etiologic diagnosis established with NGS
time frame: day 0

Secondary Outcomes

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

Eligibility Criteria

Male or female participants of any age.

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

Additional Information

Official title Targeted Next Generation Sequencing and Intellectual Disability
Principal investigator Céline BONNET
Trial information was received from ClinicalTrials.gov and was last updated in August 2016.
Information provided to ClinicalTrials.gov by Central Hospital, Nancy, France.