Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders

NCT04043351 | Completed

• 1 other identifier: 2018/0417/HP
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Autism Spectrum Disorder

Outcome Measures

Primary Outcomes (1)

• Proportion of unrelated index cases

  at least one definite or probable risk factor or causal variant of a monogenic form of autism

  through study completion, an average of 4 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with Autism Spectrum Disorder (ASD)

You may qualify if:

• 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

You may not qualify if:

• Patient who has already benefited from exome sequencing
• Person deprived of liberty by an administrative or judicial decision
• Pregnant or lactating woman

Sponsors & Collaborators

• University Hospital, Rouen: lead

Study Sites (1)

DRCI

Rouen, 76000, France

Location

MeSH Terms

Conditions

Autism Spectrum Disorder

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• GAEL NICOLAS

  ROUEN HOSPITAL

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 23, 2019
• First Posted: August 2, 2019
• Study Start: June 12, 2019
• Primary Completion: October 19, 2021
• Study Completion: October 19, 2021
• Last Updated: June 6, 2025

Record last verified: 2025-06

Locations

FR (1)