Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders (REDIA)

June 1, 2026 updated by: University Hospital, Rouen
Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

300

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Rouen, France, 76000
        • DRCI

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Study Population

Subjects with Autism Spectrum Disorder (ASD)

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: blood test
Biological: blood test

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
through study completion, an average of 4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Rouen

Investigators

  • Principal Investigator: GAEL NICOLAS, ROUEN HOSPITAL

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 12, 2019

Primary Completion (Actual)

October 19, 2021

Study Completion (Actual)

October 19, 2021

Study Registration Dates

First Submitted

July 23, 2019

First Submitted That Met QC Criteria

July 31, 2019

First Posted (Actual)

August 2, 2019

Study Record Updates

Last Update Posted (Actual)

June 3, 2026

Last Update Submitted That Met QC Criteria

June 1, 2026

Last Verified

June 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2018/0417/HP
  • 2019-A00073-54 (Registry Identifier: RCB)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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