NeuroPointDX, looking for earlier diagnosis, launches autism blood test

Young child playing
The company says this is the first of its kind blood test for the diagnosis of ASD, and can be used to detect the disorder earlier that current programs (HHS)

NeuroPointDX has launched what it says is the first objective blood test set up to help diagnose children with autism spectrum disorder earlier, which could help with quicker treatments for some.

The so-called NPDX AA test works by identifying metabolic subtypes associated in young children with autism spectrum disorder (ASD).

This blood plasma‐based test can screen kids as young as 18 months; if positive, they can then be referred to a neurodevelopmental specialist, which could lead to treatment or help with developing cognitive and adaptive skills, while also focusing on reducing ASD symptoms, which can impact communication and other areas.


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The test works by detecting amine imbalances in the blood plasma of children with “very precise thresholds,” according to the firm, and was developed from patient samples out of the Children’s Autism Metabolome Project (a.k.a. CAMP), a 1,100‐subject study and the largest one to date focused on the metabolism of children with ASD.

These imbalances, which can be picked up in around of 30% of children with ASD, are not identified by other currently available metabolic tests.

ASD is made up of a varied set of neurodevelopmental disorders that comes from differences in underlying genetic, metabolic and environmental factors, resulting in a spectrum of cognitive, behavioral and biological profiles.

No reliable, objective biomarkers have existed to aid in the diagnosis of ASD, which is currently diagnosed based on the behavioral characteristics shown by an affected child. While a diagnosis is possible in children as young as 24 months, the average age of ASD diagnosis in the U.S. is, according to NeuroPointDX, more than four years old, so it hopes to get an edge on those already on the market.

“Early diagnosis is important because intensive behavioral therapy has been shown to improve the symptoms of autism; the benefit of such intervention is greater the earlier it is started,” the company explains.

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Elizabeth Donley, president and CEO of NeuroPointDX, said: “This test provides specific information about the precise cutoffs for each metabolite measured, based on data from the large, rigorous CAMP study. We have taken great care to identify these thresholds for optimal accuracy and clinical utility, using data from the CAMP study. The result provides 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.”

And there’s plans for more: “We are continuing to mine data from the CAMP study to identify and validate additional metabolic subtypes in children with ASD,” added Bob Burrier, CCO and VP 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 says it has 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.

But getting your hands on this test won’t be easy: The NPDX AA is only available on a “limited basis” for now through NeuroPointDX’s early access program, which “will be expanded over time,” with the company adding that its test is not currently covered by insurance.

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