Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders

NCT ID: NCT04043351

Last Updated: 2025-06-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-06-12

Study Completion Date

2021-10-19

Brief Summary

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

Detailed Description

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Conditions

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Autism Spectrum Disorder

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Rouen

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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GAEL NICOLAS

Role: PRINCIPAL_INVESTIGATOR

ROUEN HOSPITAL

Locations

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DRCI

Rouen, , France

Site Status

Countries

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France

Other Identifiers

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2018/0417/HP

Identifier Type: -

Identifier Source: org_study_id

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