Intellectual Disability Clinical Trial
— NGS-DIOfficial title:
Targeted Next Generation Sequencing and Intellectual Disability
Verified date | July 2017 |
Source | Central Hospital, Nancy, France |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
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 |
Country | Name | City | State |
---|---|---|---|
France | Chru Nancy | VandÅ“uvre-lès-Nancy |
Lead Sponsor | Collaborator |
---|---|
Central Hospital, Nancy, France |
France,
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 |
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