SynapDx Autism Gene Expression Analysis Study (STORY)
STORY
SynapDx Autism Spectrum Disorder Gene Expression Analysis Study
1 other identifier
observational
880
2 countries
20
Brief Summary
This study will prospectively enroll approximately 880 children, at least 18 months and less than 60 months of age, who have been referred to a pediatric developmental evaluation center. Enrolled children will have blood drawn for RNA gene expression analysis and optionally for metabolite, lipid and DNA analysis and undergo a clinical evaluation to determine the presence or absence of a diagnosis of ASD. The primary objective of this study is: \- 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). The secondary objectives of this study are:
- To develop an algorithm to classify plasma metabolite and/or lipid profiles in such a way as to maximize agreement between the classification and a clinical assessment of presence or absence of ASD.
- To prospectively assess the clinical sensitivity and specificity of the plasma metabolite and/or lipid profile classification algorithm in a separate population consisting of children referred to a developmental evaluation clinic for a possible developmental disorder (DD).
- To evaluate clinical sensitivity and specificity of various combinations of gene expression signature, metabolite and/or lipid signatures, and presence of ASD-associated genetic variation detected by chromosomal microarray analysis (CMA) or sequencing protein-coding regions of the genome.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2013
20 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
March 1, 2013
CompletedFirst Submitted
Initial submission to the registry
March 11, 2013
CompletedFirst Posted
Study publicly available on registry
March 13, 2013
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 1, 2014
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2014
CompletedDecember 17, 2014
December 1, 2014
1.3 years
March 11, 2013
December 15, 2014
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
RNA gene expression in peripheral blood
Within 30 days of collection
Secondary Outcomes (1)
Metabolites, lipids and DNA variation in peripheral blood
Within 30 days of collection
Study Arms (2)
Development Group
In the Development Phase, analyses will be performed until the classification algorithm is finalized.
Validation Group
The Validation Phase will assess the performance of the finalized classification algorithm in 300 subjects.
Eligibility Criteria
Children 18 months to less than 60 months referred to a developmental evaluation center for evaluation of a possible developmental disorder.
You may qualify if:
- Referred to a developmental evaluation center for evaluation of a possible developmental disorder, other than isolated motor problems.
- At least 18 months and less than 60 months.
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- SynapDxlead
Study Sites (20)
Melmed Center
Scottsdale, Arizona, 85254, United States
Miller Children's Hospital
Long Beach, California, 90806, United States
UC Davis MIND Institute
Sacramento, California, 95817, United States
Emory University
Decatur, Georgia, 30033, United States
Rush Medical Center
Chicago, Illinois, 60612, United States
Riley Hospital for Children
Indianapolis, Indiana, 46202, United States
Children's Hospital Boston
Boston, Massachusetts, 02115, United States
Lurie Center Massachusetts General Hospital
Lexington, Massachusetts, 02421, United States
Mount Sinai School of Medicine/Seaver Center
New York, New York, 10029, United States
Institute for Behavioral Research on Staten Island
Staten Island, New York, 10314, United States
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27517, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229, United States
Nationwide Children's Hospital
Columbus, Ohio, 43205, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
Medical University of South Carolina
Charleston, South Carolina, 29425, United States
Vanderbilt University
Nashville, Tennessee, 37212, United States
Baylor College of Medicine/Texas Children's Hospital
Houston, Texas, 77054, United States
Seattle Children's
Seattle, Washington, 98121, United States
Glenrose Rehabilitation Hospital
Edmonton, Alberta, T5G 0B7, Canada
Holland Bloorview Kids Rehabilitation Hospital
Toronto, Ontario, M4G 1R8, Canada
Biospecimen
Peripheral blood
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Barbara Rathmell, MD
SynapDx Corp
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 11, 2013
First Posted
March 13, 2013
Study Start
March 1, 2013
Primary Completion
July 1, 2014
Study Completion
December 1, 2014
Last Updated
December 17, 2014
Record last verified: 2014-12