Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders

NCT04043351 | Completed

• 2 other identifiers: 2018/0417/HP2019-A00073-54
• Study Type: interventional
• 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

Study Arms (1)

blood test

EXPERIMENTAL

Biological: blood test

Interventions

blood test BIOLOGICAL

Performing exome sequencing in addition to the standard clinical workup, using DNA extracted from a blood sample collected as part of the patient's standard clinical workup * Interpretation of genetic variations identified in the exome that affect genes on the pre-established list; potential use of parental samples for segregation analysis to aid in the interpretation of the patient's variations * Preparation of a research report following any necessary clinical-biological comparison

blood test

Eligibility Criteria

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

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

Interventions

Hematologic Tests

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• GAEL NICOLAS

  ROUEN HOSPITAL

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• 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 3, 2026

Record last verified: 2026-06

Locations

FR (1)