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, Donley says. 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. Potential treatments for such patients might involve modified diets or drugs, used in tandem with behavioral therapy, she says.
Stemina’s autism test faces a long road to market. While the current version can identify about four fifths of children with autism by analyzing 179 small molecules, that’s a very broad diagnosis. The company’s goal is to identify more sub-signatures, of four to 11 biomarkers, that would give more specific information about the subtype of autism that a child has, at a greater rate of accuracy, Donley says. “This can inform individualized treatment specific to the patient’s own biochemistry or metabolic make-up and lead to greater understanding regarding who is a responder to which treatment,” she says. “We will continue to add to the subtypes until we can describe as many subtypes as possible.”
The next big hurdle for Stemina is raising $5 million for a 1,500-patient study, Donley says. She wants to begin enrolling patients next year, with the intention of commercializing the autism test by the end of 2017—assuming the company proves its test can successfully detect autism in a larger group of patients, of course.
Stemina plans to initially commercialize the test by utilizing an FDA regulatory exception that allows companies to market laboratory developed tests that they handle in-house. This pathway to market bypasses the typical FDA approval process, although the FDA is considering regulating these tests—a move that has drawn criticism from the lab industry and praise from some doctors. Stemina intends to eventually seek full FDA approval of the autism test, but the laboratory developed test exception allows it to get to market faster, Donley says.
