SynapDx Autism Gene Expression Analysis Study (SAGA)

SynapDx Autism Spectrum Disorder Gene Expression Analysis Study

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.

Study Overview

• Status: Completed
• Conditions: Autism

• Study Type: Observational
• Enrollment (Anticipated): 660

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Children's Hospital Boston

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 5 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort
Development group 1
Development group 2
Development group 3
Validation group

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
RNA gene expression in peripheral blood	within 30 days of collection

Collaborators and Investigators

• Sponsor: SynapDx

Study record dates

Study Major Dates

• Study Start: October 1, 2012
• Primary Completion (Actual): December 1, 2014
• Study Completion (Actual): December 1, 2014

Study Registration Dates

• First Submitted: October 23, 2012
• First Submitted That Met QC Criteria: October 29, 2012
• First Posted (Estimate): October 30, 2012

Study Record Updates

• Last Update Posted (Estimate): December 17, 2014
• Last Update Submitted That Met QC Criteria: December 15, 2014
• Last Verified: December 1, 2014

More Information

Terms related to this study

• Keywords: autism; autism spectrum disorders; developmental delay; gene expression; RNA
• Additional Relevant MeSH Terms: Mental Disorders; Neurodevelopmental Disorders; Child Development Disorders, Pervasive; Autistic Disorder; Autism Spectrum Disorder
• Other Study ID Numbers: 12001 (DAIDS-ES Registry Number)