In the latest attempt to find a better method for diagnosing autism, researchers at Madison, WI-based Stemina Biomarker Discovery and the University of California-Davis’ Mind Institute published study results Friday of an early-stage, blood-based test that they say identified autistic children with 81 percent accuracy.
The study, published in PLOS One, tested blood samples taken over a 13-month period from 82 children—52 with autism spectrum disorder (ASD) and 30 without—who were 4 to 6 years old and mostly white males. Researchers analyzed metabolites in the blood, trying to establish which of these small molecules signal autism. This approach differs from other high-profile blood-based biomarker studies in the past few years that have tried to detect the disorder by examining the activity, or expression, of genes.
Stemina has conducted two additional similar studies that achieved roughly the same results as the paper published Friday: another one in partnership with UC-Davis’ Mind Institute that involved 278 patients, and a 210-patient study with the Arkansas Children’s Hospital Research Institute, Stemina co-founder and CEO Elizabeth Donley says. The results of those two studies have yet to be published, and Stemina’s autism test is still at least three years and one larger-scale study away from commercialization, she says.
“We are very pleased with the result of this first study because it demonstrates that differences in the metabolism of children with ASD are profound enough to distinguish them from typically developing children,” Donley says in a press release. “This will allow us to understand the individual metabolism of children with ASD in a way we never could before, leading to earlier diagnosis and individualized treatment.”
Stemina, founded in 2006, has used its metabolomics technology to perform toxicity tests on compounds for drug developers, cosmetics and consumer products companies, and the U.S. Environmental Protection Agency, among other customers. But a blood test for autism would be the company’s first diagnostic product.
The average age of diagnosis for an autistic child in the U.S. is 4, although certain healthcare facilities with the right expertise can provide reliable diagnoses at age 2, Stemina says. Diagnosing the disorder as early as possible is important because some studies have shown earlier treatment can boost the child’s cognitive and social skills. The challenge is that the current standard for diagnosis is a series of behavioral tests conducted by experts, partly because scientists have yet to crack the code on the biology underpinning autism.
Plenty of research has been done over the past few years to find a reliable blood-based test to diagnose children sooner, with varying degrees of success. Lexington, MA-based SynapDx is one of the more closely watched companies trying to commercialize such a test. It has raised more than $32 million, and last year it launched an 880-patient, 20-site study of its diagnostic that primarily analyzes RNA molecules in the blood, as a way to measure gene expression.
Donley thinks that her company’s test has an advantage by studying metabolites instead of gene expression because they provide “a readout of the organism’s current state in real time,” she says. “Gene expression will also be important, but we don’t believe it will be as predictive,” she adds. (SynapDx may well be able to test that theory directly, as a secondary objective of its study is to look at metabolites, lipids, and DNA, in addition to gene expression.)
While Stemina’s test “doesn’t answer all the questions about the process of how you become autistic,” it “can be very good at diagnosing and understanding what’s different about this child,” Donley says. “That’s where we think the promise is of this particular test and approach,” she adds.
Ultimately, the goal would be to
