New Metabolic Biomarkers Open Door to Earlier Diagnosis, More Precise and Individualized Treatment of Children at Risk for Autism

May 6, 2019 |

4 min read

Continued analysis of samples from the Children’s Autism Metabolome Project (CAMP), the most comprehensive clinical study of metabolism in children who have autism spectrum disorder (ASD) conducted to date, has identified three new areas of metabolism that affect the biology of children with ASD

MADISON, Wis.--(BUSINESS WIRE)-- Continued analysis of samples from the Children’s Autism Metabolome Project (CAMP), the most comprehensive clinical study of metabolism in children who have autism spectrum disorder (ASD) conducted to date, has identified three new areas of metabolism that affect the biology of children with ASD. These include biomarkers indicating that altered neurotransmission, energy metabolism and purine metabolism may be associated with metabotypes (metabolic subtypes) of ASD. Stratifying ASD based on metabotypes both offers an opportunity for earlier identification of children at risk for an ASD diagnosis, as well as a potential strategy for more precise and individualized treatment of some affected children. The addition of these metabotypes to the previously published branch-chain amino acid dysregulation subtypes in the biomarker test panel under development by NeuroPointDX can now help identify approximately 41% of ASD-affected children as early as 18 months of age.

Robert E. Burrier, Ph.D., Chief Operating Officer and Vice President of Research and Development at NeuroPointDX, a sponsor and co-investigator for the CAMP study, presented the new data from the study on May 4 at INSAR 2019.

“Autism spectrum disorder (ASD) is biologically and behaviorally heterogeneous and is associated with a diverse array of underlying genetic, metabolic, and environmental factors. Thus, it is unlikely that a single biomarker exists that will detect all autism,” said David G. Amaral, Ph.D., of the University of California – Davis MIND Institute, lead investigator for the CAMP study. “Our aim has been to help generate panels of validated biomarkers that will detect a large proportion of children at risk for ASD and to highlight metabolic pathways that may be targets for therapeutic intervention. The newly disclosed metabotypes discussed at INSAR increase the overall diagnostic sensitivity of the biomarker panel from 17% to 41% of ASD-affected children, when all of the identified metabotypes are combined into the test battery.”

The initial published findings of the CAMP study identified metabotypes in children with ASD, which were related to imbalances in branched chain amino acids. The research presented at INSAR describes additional reproducible metabotypes in both the training and test sets of CAMP subjects in three new areas of metabolism. Additional amine- and amino acid-related metabotypes that also encompass important neurotransmitters identified 21.5% of the CAMP ASD subjects. A second panel of metabotypes associated with energy metabolism and mitochondrial function identified 22.3% of CAMP ASD subjects. Finally, a single metabotype related to purine catabolism has identified 6.3% of CAMP ASD subjects. Although there is some overlap in metabotypes in some subjects with ASD, these new biomarkers bring the total sensitivity of the combined panels to 41%.

“We are continuing to analyze the wealth of data from CAMP with the goal of identifying and validating additional metabotypes that spotlight a high risk of ASD,” said Dr. Burrier. “Metabotype stratification of ASD may provide more biochemically homogeneous populations that, in turn, offer the potential for more tailored pharmacological, behavioral, and dietary interventions.”

Working with a pediatric nutritional specialist in amino acid metabolism and neurodevelopment, NeuroPointDX is currently planning a clinical trial of a BCAA/high-protein supplement specifically formulated for children who have been identified through the CAMP study as having specific BCAA-related metabolic subtypes of ASD. BCAAs are essential amino acids that humans must obtain through foods, and dietary supplements of this type have long been known to be safe.

About NeuroPointDX

NeuroPointDX, a business unit of Stemina Biomarker Discovery, is bringing a precision medicine approach to the diagnosis and treatment of neurological disorders through the application of world-class metabolomics. The company’s current focus is autism spectrum disorder (ASD). NeuroPointDX has developed and is commercializing testing panels to aid in the early diagnosis of ASD through its CLIA-certified laboratory.

The NPDX ASD test identifies children with specific metabolic subtypes associated with ASD. The test may be used to screen children as young as 18 months. The NPDX ASD test also provides metabolic information that may be used to inform a more precise treatment strategy for a child with ASD. The metabolic subtypes were identified and validated in children 18-48 months old in the Children’s Autism Metabolome Project (CAMP), the largest clinical study of metabolism of children with ASD conducted to date.

For more information, please visit our website at http://www.NeuropointDX.com.