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SynapDx Autism Gene Expression Analysis Study (SAGA)

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ClinicalTrials.gov Identifier: NCT01716845
Recruitment Status : Completed
First Posted : October 30, 2012
Last Update Posted : December 17, 2014
Information provided by (Responsible Party):

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.

Condition or disease

Study Type : Observational
Estimated Enrollment : 660 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: SynapDx Autism Spectrum Disorder Gene Expression Analysis Study
Study Start Date : October 2012
Primary Completion Date : December 2014
Study Completion Date : December 2014

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Development group 1
Development group 2
Development group 3
Validation group

Primary Outcome Measures :
  1. RNA gene expression in peripheral blood [ Time Frame: within 30 days of collection ]

Biospecimen Retention:   Samples With DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Months to 5 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01716845

United States, Massachusetts
Children's Hospital Boston
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators

Responsible Party: SynapDx
ClinicalTrials.gov Identifier: NCT01716845     History of Changes
Other Study ID Numbers: 12001
First Posted: October 30, 2012    Key Record Dates
Last Update Posted: December 17, 2014
Last Verified: December 2014

Keywords provided by SynapDx:
autism spectrum disorders
gene expression
developmental delay

Additional relevant MeSH terms:
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders