NeuroPointDX Announces Validation of First-Generation Autism Diagnostic Panel

New blood test identifies 12 metabolic sub-types of autism spectrum disorder

23 Jan 2018
Frankie MacDonald
Administrator / Office Personnel

NeuroPointDX, the neurological disorders division of Stemina Biomarker Discovery, has announced that it has validated a first-generation autism diagnostic blood test panel in the Children’s Autism Metabolome Project (CAMP), its clinical study. The study has enrolled 1,100 children, age 18-48 months, over the course of two years. CAMP is the largest study ever conducted that examines the metabolism of children with autism spectrum disorder (ASD).

“We’re so proud of the work our eight clinical sites have done to recruit very young children and their families to participate in CAMP. This tightly-designed study requires a first-of-the-morning blood draw, behavior and cognitive assessment, and medical examination. The quality of the work done at these sites deserves recognition.” said Elizabeth Donley, NeuroPointDX’s CEO.

“Much like cancer consists of many distinct types, neurological disorders like autism can be best understood by looking at how an individual child’s symptoms present and what exacerbates them. Our research shows that how some children process certain amino acids can tell us a lot about how to help that child thrive. We have validated 12 metabolic subtypes of ASD, which together account for approximately 30% of children with autism, in our first-generation panel,” Donley said. “This is just the beginning of what we expect to learn from the CAMP study. This is an historic moment, not just for Stemina and NeuroPointDX, but for our knowledge and understanding of autism.”

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NeuroPointDX’s first-generation autism diagnostic blood test was validated using patient samples from the $6 million CAMP study. “A manuscript is in progress and will be submitted to a peer-reviewed scientific journal by the end of January,” said Donley. “It is not an exaggeration to say that NeuroPointDX will revolutionize diagnosis and precision medicine. By identifying imbalances in the patient’s metabolism, we can diagnose neurological disorders and identify targeted treatments. These interventions may be as simple as modifying diet or dietary supplements, or as complex as developing new drugs to correct the imbalance.”

Stemina was awarded a $2.7 million grant from the National Institute of Mental Health (NIMH) in August 2015 to support the CAMP study. The study is also supported by a $3.8 million investment from the Nancy Lurie Marks Family Foundation (NLMFF). The clinical sites are the MIND Institute at the University of California-Davis, Arkansas Children’s Hospital Research Institute in Little Rock, Vanderbilt University in Nashville, Cincinnati Children’s Hospital, Nationwide Children’s Hospital in Columbus, the Melmed Center in Phoenix, Children’s Hospital of Philadelphia, and the Lurie Center at Massachusetts General Hospital in Lexington.

The test will be available this year and delivered by Stemina’s CLIA laboratory in Madison, Wisconsin.

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