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OpenTrials
Completed

NCT Number: NCT04043351

Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders

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

Completed

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Key information

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

DRCI

Rouen, 76000, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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

Primary outcomes

  1. 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

Sponsors and collaborators

Lead sponsor

University Hospital, Rouen

Other

Registry information

Acronym: REDIA

Important dates

Study start
2019
Primary completion
2021
Study completion
2021
First posted
Aug 2, 2019
Registry last updated
Jun 3, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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