NCT04043351
Completed
Not Applicable
Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders
University Hospital, Rouen1 site in 1 country300 target enrollmentJune 12, 2019
ConditionsAutism Spectrum Disorder
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Autism Spectrum Disorder
- Sponsor
- University Hospital, Rouen
- Enrollment
- 300
- Locations
- 1
- Primary Endpoint
- Proportion of unrelated index cases
- Status
- Completed
- Last Updated
- 11 months ago
Overview
Brief Summary
Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).
Investigators
Eligibility Criteria
Inclusion Criteria
- •Patient with ASD who has been previously diagnosed by an expert center according to the DSM5 criteria using standardized instruments (ADOS, ADI-R), referred to genetic consultation by the psychiatrist who performed the clinical diagnosis, according to the recommendations of the HAS, and requesting a genetic analysis for medical purposes in this context.
- •Patient over 3 years old
- •Patient affiliated to a social security scheme
- •For minor patients: Holders of the exercise of parental authority who have read and understood the newsletter and signed the consent form
- •For a major patient: Major patient who has read and understood the newsletter and signed the consent form
- •Supervised minor / minor patient: Legal representative who has read and understood the newsletter and signed the consent form
- •Major patient under guardianship: Major patient assisted by his curator or by the judge having read and understood the newsletter and signed the consent form
- •DNA of the patient and parents available
Exclusion Criteria
- •Patient who has already benefited from exome sequencing
- •Person deprived of liberty by an administrative or judicial decision
- •Pregnant or lactating woman
Outcomes
Primary Outcomes
Proportion of unrelated index cases
Time Frame: through study completion, an average of 4 years
at least one definite or probable risk factor or causal variant of a monogenic form of autism
Study Sites (1)
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