Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders

Completed

• Conditions: Autism Spectrum Disorder

• Registration Number: NCT04043351
• Lead Sponsor: University Hospital, Rouen

Brief Summary

Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).

Detailed Description

Not available

Study Timeline

• Study Start: 2019-06-12
• Study First Submitted: 2019-07-23
• Study First Submitted QC: 2019-07-31
• Study First Posted: 2019-08-02
• Primary Completion: 2021-10-19
• Study Completion: 2021-10-19
• Status Verified: 2025-06
• Last Update Submitted: 2025-06-02
• Last Update Posted: 2025-06-06

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 300

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Proportion of unrelated index cases	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

Trial Locations

Locations (1)

DRCI; 🇫🇷 Rouen, France