Status:
COMPLETED
Contribution of High Throughput RNA Sequencing Combined With Sequencing of Whole Genomes in the Diagnosis of Intellectual Disability
Lead Sponsor:
Centre Hospitalier Universitaire Dijon
Conditions:
Patients With Intellectual Disabilities Without an Obvious Clinical Diagnosis
Patients With Normal Array CGH and Previous Negative Genetic Investigations (WES-solo or WES-trio)
Eligibility:
All Genders
Brief Summary
Intellectual disability (ID) is a clinically and genetically heterogeneous condition that often results in a diagnostic odyssey. The deployment of high throughput sequencing (HTS) and in particular e...
Eligibility Criteria
Inclusion
- individuals with intellectual disabilities without an obvious clinical diagnosis,
- idividuals with normal array CGH and previous negative genetic explorations (WES-solo or WES-trio),
- individuals whose sampling is possible in the index case and the 2 biological parents in order to carry out a trio sequencing,
- individuals having given their written consent (consent of the legal representative(s) if the patient is a minor or incapacitated),
- individuals whose biological parents have given their consent to be sampled,
- individuals affiliated to or beneficiaries of the national health insurance system.
Exclusion
- pregnant or breastfeeding woman,
- individuals for whom there is a diagnostic hypothesis considered highly probable and for which a molecular test routinely available has a lower cost than the genome,
- individual whose parents refuse to participate in the study
Key Trial Info
Start Date :
February 4 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
February 2 2021
Estimated Enrollment :
62 Patients enrolled
Trial Details
Trial ID
NCT03857997
Start Date
February 4 2019
End Date
February 2 2021
Last Update
October 1 2021
Active Locations (1)
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1
Chu Dijon Bourgogne
Dijon, France, 21000