Children's Autism Metabolome Project

Autism Spectrum Disorder Clinical Trial

— CAMP-01  

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT02548442
• Other study ID #: CAMP-01
• Secondary ID: R44MH107124-01
• Status: Active, not recruiting
• Start date: August 2015
• Est. completion date: August 2023

Study information

• Verified date: June 2020
• Source: Stemina Biomarker Discovery, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 1102
• Est. completion date: August 2023
• Est. primary completion date: January 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Months to 48 Months

Eligibility

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

Related Conditions & MeSH terms

• Autism Spectrum Disorder
• Autistic Disorder
• Developmental Disabilities
• Developmental Disorder
• Disease

Locations

Country	Name	City	State
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio
United States	Nationwide Children's Hospital	Columbus	Ohio
United States	Lurie Center for Autism	Lexington	Massachusetts
United States	Arkansas Children's Hospital	Little Rock	Arkansas
United States	Vanderbilt University Medical Center	Nashville	Tennessee
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	UC David MIND Institute	Sacramento	California
United States	Melmed Center	Scottsdale	Arizona

Sponsors (3)

Lead Sponsor	Collaborator
Stemina Biomarker Discovery, Inc.	Nancy Lurie Marks Family Foundation, National Institute of Mental Health (NIMH)

Country where clinical trial is conducted

United States, 

References & Publications (2)

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):34 — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Metabolites in plasma that are specific for subtypes of autism spectrum disorder	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.	Within 60 months of sample collection