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

May 6, 2019 Off By BusinessWire

NeuroPointDX Presents Further Data from Children’s Autism Metabolome
Project at INSAR 2019

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.