Children's Autism Metabolome Project

NCT02548442 | Unknown

• 2 other identifiers: CAMP-01R44MH107124-01
• Study Type: observational
• Target: 1,102
• Locations: 1 country
• Sites: 8

Brief Summary

Development and Clinical Evaluation of the Stemina Metabolic Biomarker-Based Test to Diagnose Autism Spectrum Disorder in Early Childhood.

Conditions

Autism Spectrum Disorder; Developmental Disorder

Outcome Measures

Primary Outcomes (1)

• Metabolites in plasma indicative of autism spectrum disorder.

  Study participants were randomized into two independent groups: a biomarker discovery/method development (training set) and a validation set. The validation set is used to assess the performance of the biomarkers identified in the training set once the analytical methods and algorithms are developed using the training set. These biomarkers and algorithms will be used in the clinical diagnostic tests. Using this approach and CLIA validated assays, two diagnostic panels are now able to correctly identify metabolic signatures in 53% of the ASD population in the CAMP study with a specificity of 91% when tested against the validation set of subject samples.

  Within 60 months of sample collection

Secondary Outcomes (1)

• Metabolites in plasma that are specific for subtypes of autism spectrum disorder

  Within 60 months of sample collection

Study Arms (3)

Autism Spectrum Disorder

Subjects identified as having Autism Spectrum Disorder using behavioral based methods.

Developmental Delay

Subjects identified as having a developmental delay that is not Autism Spectrum Disorder using behavioral methods.

Typically Developing Children

Subjects identified as not having a developmental delay or autism spectrum disorder using behavioral methods as well as not having another serious medical or psychological condition.

Eligibility Criteria

• Age: 18 Months - 48 Months
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Subjects will be identified as autism spectrum disorder (ASD) or developmentally delayed (DD) subjects by standard behavioral techniques; Typically developing (TD) subjects will be recruited from the communities in which the autism research centers are situated. The ADOS-2 (research reliable), the Mullen Scales of Early Learning (MSEL), as well as an evaluation based on the DSM-V checklist will be administered to each subject enrolled in the study suspected to have a developmental delay or autism. Typically developing children enrolled in the study will be given an MSEL and a Social Communications Questionnaire (SCQ) evaluation to document that they are neither ASD nor DD subjects.

You may qualify if:

• Age of greater or equal to 18 months and less than or equal to 48 months
• Fulfills the definition of an autism spectrum disorder, developmentally delayed, or typically developing child in the age range 18-48 months, as determined by a clinician or certified practitioner of the appropriate tests and who is knowledgeable in the field; and
• Has parental (or other legal guardian ) informed consent to participate.

You may not qualify if:

• Diagnosis with a chronic condition that could interfere with a diagnosis of ASD or DD, (e.g.: a known history of Fragile X, Rett syndrome, Down syndrome, tuberous sclerosis, trisomy 21, inborn errors of metabolism or other genetic disorder that includes some symptoms of autism)
• Fetal alcohol syndrome, or other serious neurological disorder
• Other serious metabolic disorder, psychiatric disorder, or medical condition involving the liver, kidney, pulmonary, cardiovascular or endocrine systems
• A second child within a family in which a sibling has already been enrolled.
• A child who has previously participated in the CAMP-01 study

Sponsors & Collaborators

• Stemina Biomarker Discovery, Inc.: lead
• National Institute of Mental Health (NIMH): collaborator
• Nancy Lurie Marks Family Foundation: collaborator

Study Sites (8)

Melmed Center

Scottsdale, Arizona, 85254, United States

Location

Arkansas Children's Hospital

Little Rock, Arkansas, 72202, United States

Location

UC David MIND Institute

Sacramento, California, 95817, United States

Location

Lurie Center for Autism

Lexington, Massachusetts, 02142, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

Related Publications (3)

• West PR, Amaral DG, Bais P, Smith AM, Egnash LA, Ross ME, Palmer JA, Fontaine BR, Conard KR, Corbett BA, Cezar GG, Donley EL, Burrier RE. Metabolomics as a tool for discovery of biomarkers of autism spectrum disorder in the blood plasma of children. PLoS One. 2014 Nov 7;9(11):e112445. doi: 10.1371/journal.pone.0112445. eCollection 2014.

  PMID: 25380056 BACKGROUND

• Smith AM, King JJ, West PR, Ludwig MA, Donley ELR, Burrier RE, Amaral DG. Amino Acid Dysregulation Metabotypes: Potential Biomarkers for Diagnosis and Individualized Treatment for Subtypes of Autism Spectrum Disorder. Biol Psychiatry. 2019 Feb 15;85(4):345-354. doi: 10.1016/j.biopsych.2018.08.016. Epub 2018 Sep 6.

  PMID: 30446206 RESULT

• Smith AM, Donley ELR, Ney DM, Amaral DG, Burrier RE, Natowicz MR. Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics. Front Psychiatry. 2023 Oct 2;14:1249578. doi: 10.3389/fpsyt.2023.1249578. eCollection 2023.

  PMID: 37928922 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood plasma for metabolite analysis and blood samples for DNA and RNA expression analysis will be collected from all children as part of the study protocol. Genetic analysis of samples will be performed only on subjects that have consented to allow this evaluation. In addition, a urine sample for metabolite analysis will also be obtained from children capable of providing the sample while at the clinical site.

MeSH Terms

Conditions

Autism Spectrum Disorder; Developmental Disabilities

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Robert E Burrier, Ph.D.

  Stemina Biomarker Discovery

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: September 2, 2015
• First Posted: September 14, 2015
• Study Start: August 1, 2015
• Primary Completion: January 1, 2023
• Study Completion: August 1, 2023
• Last Updated: June 29, 2020

Record last verified: 2020-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (8)