NeuroPointDX, a division of Stemina Biomarker Discovery, today announced the commercial launch of its NPDX AA test, which identifies metabolic subtypes associated with autism spectrum disorder (ASD). The blood plasma-based test, provided through NeuroPointDX's CLIA-certified laboratory, may be used to screen children as young as 18 months. Children who receive a positive result on the test should be prioritized for further clinical evaluation by a neurodevelopmental specialist. The NPDX AA test also provides metabolic information that may be used by clinicians and physicians to inform a more precise treatment strategy for a child diagnosed with ASD.
The test detects amine imbalances in the blood plasma of children with very precise thresholds that were identified and validated based on patient samples from the Children's Autism Metabolome Project (CAMP), a 1,100-subject study, the largest one to date focused on the metabolism of children with ASD. These imbalances, detected in about 30% of children with ASD, are not identified by other currently available metabolic tests.
The branched-chain amino acid metabotypes (metabolic subtypes) identified by the CAMP study and previously published in Biological Psychiatry account for several of the metabotypes included in the NPDX AA test.
"Clinicians need better tools to diagnose children with ASD as early in development as possible. Research has indicated that positive outcomes — such as improvement in cognitive and adaptive skills, and reduction in ASD symptoms — are more likely in children who begin treatment before age three," said Elizabeth Donley, President and Chief Executive Officer of NeuroPointDX.
"This test provides specific information about the precise cutoffs for each metabolite measured, based on data from the large, rigorous CAMP study," Donley continued. "We have taken great care to identify these thresholds for optimal accuracy and clinical utility, using data from the CAMP study. The results provide a biological basis for further evaluation by a neurodevelopmental specialist. Moreover, in conjunction with advice from a physician, they may point to a treatment strategy for some children."
"We are continuing to mine data from the CAMP study to identify and validate additional metabolic subtypes in children with ASD," said Bob Burrier, Chief Operating Officer and Vice President of Research & Development at NeuroPointDX. "Our aim is to further build on the utility of this test to identify a greater percentage of children with additional metabolic subtypes. The metabolic biomarkers we have identified will serve as targets for new therapies ranging from pharmaceuticals to dietary supplements, bringing precision medicine to the diagnosis and treatment of this neurodevelopmental disorder." NeuroPointDX plans to bring a second test panel to market in 2019. The company is also seeking to identify potential treatments for ASD based on differences in the metabolism of these children.
The NPDX AA test is available initially on a limited basis through NeuroPointDX's early access program, which will be expanded over time. For more information, visit www.neuropointdx.com/our-test.
The test must be ordered by a physician, and requires a fasting blood sample, which can be taken by a phlebotomy lab. The lab then ships the blood plasma sample to NeuroPointDX's CLIA-certified laboratory for testing.
Test results are provided to the physician within two weeks.
The NPDX AA test is recommended for a child who has:
- Failed screening for developmental milestones indicating risk for ASD (e.g., M-CHAT, ASQ-3, PEDS, STAT, etc.)
- A family history, such as a sibling, diagnosed with ASD
- An existing ASD diagnosis and for whom additional metabolic information may provide insight into the child's condition and therapy
The NPDX AA test is not currently covered by insurance. However, the test does qualify for payment or reimbursement under Health Care Flexible Spending Accounts (FSA). An FSA credit card can be used to pay for the test online or by phone.