Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders
Completed
- Conditions
- Autism Spectrum Disorder
- Registration Number
- NCT04043351
- Lead Sponsor
- University Hospital, Rouen
- Brief Summary
Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 300
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 & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Proportion of unrelated index cases 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
- Secondary Outcome Measures
Name Time Method
Related Research Topics
Explore scientific publications, clinical data analysis, treatment approaches, and expert-compiled information related to the mechanisms and outcomes of this trial. Click any topic for comprehensive research insights.
What molecular mechanisms underlie exome sequencing's diagnostic utility in autism spectrum disorders?
How does exome sequencing compare to chromosomal microarray analysis for diagnosing ASD subtypes?
Which genetic biomarkers identified in NCT04043351 correlate with ASD severity or treatment response?
What adverse events are associated with clinical exome sequencing in pediatric ASD populations?
Are there novel gene targets or pathways for ASD therapies highlighted in this exome sequencing study?
Trial Locations
- Locations (1)
DRCI
🇫🇷Rouen, France
DRCI🇫🇷Rouen, France