With a new $2.7 million federal grant in hand, Stemina Biomarker Discovery has launched a 1,500-patient study of its experimental test to diagnose children with autism spectrum disorder. According to the company, it’s the largest clinical trial ever of this type of autism test—one that measures residues in the blood called metabolites.
Stemina, a Madison, WI-based startup that recently established a presence in the Boston area, has now raised $8.4 million from investors and $6.75 million in grants, including the new $2.7 million award from the National Institute of Mental Health.
Stemina is trying to propel its diagnostic technology to market, first targeting autism, and eventually other neurological disorders like schizophrenia and depression, CEO Elizabeth Donley says. The company also has a revenue-generating business that uses the same technology to screen chemicals and other compounds for potential harmful effects on humans.
Founded in 2006, Stemina has already completed three smaller studies of its blood-based test for autism. One was published in PLOS One last year and showed the test’s ability to identify autistic children with 81 percent accuracy. Those three studies examined banked blood samples from more than 500 patients.
The new study—dubbed the Children’s Autism Metabolome Project, or “CAMP”—will enroll children from six sites nationwide who are ages 18 months to 4 years old. The plan is to examine 500 children with autism, 500 with other neurodevelopmental disorders, and 500 who appear to be developing normally. Stemina anticipates enrollment of all 1,500 subjects to take 18 to 24 months, Donley says.
The CAMP study will expose Stemina’s test across a larger set of patients and, if all goes well, could be what regulators require to grant marketing clearance.
“This is a great opportunity to [produce] a high quality set of data to validate our earlier discoveries,” Donley says.
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. Stemina and others think that a reliable blood-based test might be more objective, accurate, and able to detect autism sooner.
Plenty of research has been done the past few years to find a reliable blood-based test to diagnose children sooner, with varying degrees of success. Unlike Stemina, most of those have tried to detect the disorder by examining the activity, or expression, of genes.
Lexington, MA-based SynapDx is one closely watched company trying to commercialize such a test. It has raised more than $32 million, and in 2013 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 previously told Xconomy her company’s test might have an advantage by studying metabolites instead of gene expression because they provide “a readout of the organism’s current state in real time,” and they show promise pinpointing what’s different about each child’s case.
Ultimately, the goal would be to not only diagnose autism sooner, but also better understand the nature of each child’s condition so that a more effective treatment can be prescribed.
The early research by Stemina and its partners has identified two subgroups of autism patients, one whose condition is associated with changes in small molecules in their gastrointestinal tract, and another with a link to changes in the urea cycle. (That’s the body’s process for removing nitrogen—a byproduct of proteins’ metabolism—from the blood and turning it into a compound called urea, which then exits the body through urination.)
Potential treatments for such patients might involve modified diets or drugs, used in tandem with behavioral therapy, Donley says. (That’s something that will have to be tested, and Stemina is already considering additional studies with CAMP subjects, she says.)
The 1,500-patient CAMP study will attempt to demonstrate that Stemina’s technology can accurately detect each of those two subgroups of autism, as well as discover more biomarkers associated with the disorder.
Eventually, the goal is to offer a panel of tests for a handful of autism subtypes that “will have predictive value and in totality can diagnose autism sooner,” Donley says.
Making those aspirations reality will require more money. Stemina is seeking $3 million more from investors, Donley says. Potential backers have told her they want to see additional data that validates the pilot studies, she adds.
Stemina’s venture capital push is part of the reason why the company started renting desk space in June at the Cambridge Innovation Center in Cambridge, MA, she says. The decision is already paying off with valuable connections to possible investors, Donley says.
“There just isn’t the richness of funding and entrepreneurship out here in the Midwest,” Donley says, speaking on the phone from Madison. “It’s important to be where the funders are and people who are interested in this kind of work.”
Donley and other Stemina executives were already visiting the Boston area regularly because three of its board members and one of its backers, the Nancy Lurie Marks Family Foundation, are based in the area. After establishing a more formal presence there, Donley says she spends roughly one week per month at the Cambridge co-working space.
Donley says Stemina will maintain its Madison operations and intends to house its laboratory there that would perform testing for the planned diagnostic products.
“It’s less expensive and the people here like to live in Madison,” Donley says.