Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders

Autism Spectrum Disorder Clinical Trial

— REDIA  

Official title:

Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04043351
• Other study ID #: 2018/0417/HP
• Status: Recruiting
• Start date: June 12, 2019
• Est. completion date: June 2023

Study information

• Verified date: July 2019
• Source: University Hospital, Rouen
• Contact: DAVID MALLET
• Phone: 0232888265
• Email: secretariat.drc[@]chu-rouen.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: June 2023
• Est. primary completion date: June 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Autism Spectrum Disorder
• Autistic Disorder
• Child Development Disorders, Pervasive
• Disease

Locations

Country	Name	City	State
France	DRCI	Rouen

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Rouen

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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