SynapDx Autism Gene Expression Analysis Study

NCT01716845 | Completed

• 1 other identifier: 12001
• Study Type: observational
• Target: 660
• Locations: 1 country
• Sites: 1

Brief Summary

This study will prospectively enroll approximately 660 children, at least 18 months and less than 5 years of age, who have been referred to a pediatric developmental evaluation centers. Enrolled children will have blood drawn for RNA gene expression analysis and undergo a clinical evaluation to determine the presence or absence of a diagnosis of ASD. The sequential co-primary objectives of this study are:

• To develop an algorithm to classify blood RNA gene expression patterns to maximize agreement between the classification and a clinical assessment of presence or absence of Autism Spectrum Disorders (ASD).
• To prospectively assess the clinical sensitivity and specificity of the blood RNA gene expression classification algorithm (the SDX-002 test) in children referred to a developmental evaluation clinic for a possible developmental disorder.

Conditions

Autism

Keywords

autism; autism spectrum disorders; RNA; gene expression; developmental delay

Outcome Measures

Primary Outcomes (1)

• RNA gene expression in peripheral blood

  within 30 days of collection

Study Arms (4)

Development group 1

Development group 2

Development group 3

Validation group

Eligibility Criteria

• Age: 18 Months - 5 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

Children 18 months to \< 5 years referred to a developmental evaluation centers for evaluation of a possible developmental disorder.

You may qualify if:

• Referred to a developmental evaluation centers for evaluation of a possible developmental disorder, other than isolated motor problems.
• Age \>= 18 months and \< 5 years.
• Parent/legal guardian has been informed about the study and has signed an informed consent form.

You may not qualify if:

• Prior reliable diagnosis of Autism Spectrum Disorder (i.e. prior evaluation by a multi-disciplinary team has already reliably established Autism Spectrum Disorder diagnosis).
• Unable or unwilling to complete study procedures

Sponsors & Collaborators

• SynapDx: lead

Study Sites (1)

Children's Hospital Boston

Boston, Massachusetts, 02115, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA, RNA

MeSH Terms

Conditions

Autistic Disorder; Autism Spectrum Disorder; Learning Disabilities

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 23, 2012
• First Posted: October 30, 2012
• Study Start: October 1, 2012
• Primary Completion: December 1, 2014
• Study Completion: December 1, 2014
• Last Updated: December 17, 2014

Record last verified: 2014-12

Locations

US (1)