Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

Children's Autism Metabolome Project (CAMP-01)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02548442
Recruitment Status : Active, not recruiting
First Posted : September 14, 2015
Last Update Posted : June 29, 2020
National Institute of Mental Health (NIMH)
Nancy Lurie Marks Family Foundation
Information provided by (Responsible Party):
Stemina Biomarker Discovery, Inc.

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

Condition or disease
Autism Spectrum Disorder Developmental Disorder

Detailed Description:

The purpose of this study is to identify metabolitic signatures in blood plasma and/or urine using a panel of biomarker metabolites that differentiate children with autism spectrum disorder (ASD) from children with delayed development (DD) and/or typical development (TD), to develop an algorithm that maximizes sensitivity and specificity of the biomarker profile, and to evaluate the overall algorithm as a diagnostic tool.

A secondary objective is to define metabolites capable of classifying subtypes of ASD that may increase understanding of the metabolic basis of the condition, as well as inform on personalized therapy.

The population targeted for this study includes children aged 18 months to 48 months, diagnosed with ASD or DD using behavioral criteria, and TD children, identified as having no indications of ASD or DD using behavioral criteria. The original target size for the study was 1500 subjects divided equally between the three groups. The targeted male:female ratio is 4:1 in all three groups. During the study, it was determined that biomarkers capable of identifying ASD subjects could be obtained using a total of 1100 subjects divided with 58% ASD, 25%TD, and 17% DD. If the diagnostic biomarkers identified in the study do not perform well in females during the biomarker discovery phase, the study may be expanded to recruit more females to examine the possibility of a female-specific diagnostic test.

Subjects will be qualified for entry into the study and will be invited to participate. On the first study day, subjects' parents will sign an informed consent form and will be asked questions on the mother's pregnancy and of both parents' medical history. A complete medical history, a physical examination, and information needed to obtain a diagnosis of ASD, DD, or TD will be obtained on the study subject. If possible, a urine sample will be collected during the visit. Up to four tubes of blood (<25 mLs total) will be drawn at the clinic during the visit or within 14 days following this initial visit. An overnight fast is required prior to the visit where blood will be taken from the subject. A subset of the subjects will be asked to return to the clinic 30-60 days later to obtain a replicate metabolic profile.

The study will be divided into a biomarker discovery/method development phase followed by a validation phase of the analytical methods and algorithm that will be used in the clinical test.

The subjects will be randomized and divided equally between a discovery/training set and a validation set. The training set will be used for discovery of the biomarkers and development of the analytical methods intended for the diagnostic test. The validation sample set will be used to evaluate performance of the final clinical methods and algorithms.

Consent will also be sought from all subjects for follow-up contact up to 5 years following enrollment of the last subject enrolled to determine the accuracy of the original behavioral diagnosis over time. Subjects chosen for follow-up will be identified based on the strength of the diagnosis from the behavioral scores and physician assessments as well as the biomarker profiles observed in individuals.

Layout table for study information
Study Type : Observational
Actual Enrollment : 1102 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Children's Autism Metabolome Project (CAMP): Development and Clinical Evaluation of the Stemina Metabolic Biomarker-Based Test to Diagnose Autism Spectrum Disorder in Early Childhood
Study Start Date : August 2015
Estimated Primary Completion Date : January 2023
Estimated Study Completion Date : August 2023

Resource links provided by the National Library of Medicine

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.

Primary Outcome Measures :
  1. Metabolites in plasma indicative of autism spectrum disorder. [ Time Frame: Within 60 months of sample collection ]
    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.

Secondary Outcome Measures :
  1. Metabolites in plasma that are specific for subtypes of autism spectrum disorder [ Time Frame: Within 60 months of sample collection ]
    Using the training set or the validation subject set described in the primary aim, the study will seek to identify additional biomarkers such that >75% of the ASD population can be correctly identified with the same high specificity of >90%. In addition, the study will attempt to link the new biomarkers to important metabolic pathways associated with ASD to give insight into the underlying pathophysiologies of the disorder.

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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   18 Months to 48 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • 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

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 identifier (NCT number): NCT02548442

Layout table for location information
United States, Arizona
Melmed Center
Scottsdale, Arizona, United States, 85254
United States, Arkansas
Arkansas Children's Hospital
Little Rock, Arkansas, United States, 72202
United States, California
UC David MIND Institute
Sacramento, California, United States, 95817
United States, Massachusetts
Lurie Center for Autism
Lexington, Massachusetts, United States, 02142
United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
United States, Tennessee
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37232
Sponsors and Collaborators
Stemina Biomarker Discovery, Inc.
National Institute of Mental Health (NIMH)
Nancy Lurie Marks Family Foundation
Layout table for investigator information
Principal Investigator: Robert E Burrier, Ph.D. Stemina Biomarker Discovery
Publications of Results:
Other Publications:
Layout table for additonal information
Responsible Party: Stemina Biomarker Discovery, Inc. Identifier: NCT02548442    
Other Study ID Numbers: CAMP-01
R44MH107124-01 ( U.S. NIH Grant/Contract )
First Posted: September 14, 2015    Key Record Dates
Last Update Posted: June 29, 2020
Last Verified: June 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Autistic Disorder
Autism Spectrum Disorder
Developmental Disabilities
Pathologic Processes
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders