SynapDx Autism Gene Expression Analysis Study (STORY)

Completed

Conditions studied: Autism

In brief

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.

Key facts

Study ID

NCT01810341

Run by

SynapDx

People needed

880

Starts

2013-03-01

Expected to finish

2014-12-01

Last updated by the study team

2014-12-17

Who can join

Age: 2 and older, up to 5. Sex: any. Healthy volunteers: not accepted.

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.

Where it is running

• Melmed Center — Scottsdale, Arizona, United States
• Miller Children's Hospital — Long Beach, California, United States
• UC Davis MIND Institute — Sacramento, California, United States
• Emory University — Decatur, Georgia, United States
• Rush Medical Center — Chicago, Illinois, United States
• Riley Hospital for Children — Indianapolis, Indiana, United States
• Children's Hospital Boston — Boston, Massachusetts, United States
• Lurie Center Massachusetts General Hospital — Lexington, Massachusetts, United States
• Mount Sinai School of Medicine/Seaver Center — New York, New York, United States
• Institute for Behavioral Research on Staten Island — Staten Island, New York, United States
• University of North Carolina at Chapel Hill — Chapel Hill, North Carolina, United States
• Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States
• Nationwide Children's Hospital — Columbus, Ohio, United States
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
• Medical University of South Carolina — Charleston, South Carolina, United States
• Vanderbilt University — Nashville, Tennessee, United States
• Baylor College of Medicine/Texas Children's Hospital — Houston, Texas, United States
• Seattle Children's — Seattle, Washington, United States
• Glenrose Rehabilitation Hospital — Edmonton, Alberta, Canada
• Holland Bloorview Kids Rehabilitation Hospital — Toronto, Ontario, Canada

Full record on ClinicalTrials.gov

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