Autism is hard to diagnose—there’s currently no medical test to diagnose the disorder, and teams of experts typically make diagnosis decisions based on their assessments of patients’ behavior. NeuroPointDX aims to change that with a test that could potentially diagnose the condition by analyzing the metabolism of a child from a small blood sample.
NeuroPoint, a business division of Madison, WI-based Stemina Biomarker Discovery focused on diagnostics for neurological disorders, is now turning to the autism community to support its efforts to validate its blood test. The company is seeking to raise $50,000 or more through a new crowdfunding campaign. NeuroPoint is managing the campaign, which runs through March 2, using the website Experiment.com.
NeuroPoint said it plans to use money raised through the campaign—$915 as of mid-day Tuesday—to support a study of its experimental autism test that measures residues in the blood called metabolites.
Last March, researchers at Rensselaer Polytechnic Institute conducting research independent from NeuroPoint’s work, said they had developed an algorithm that can accurately predict whether a child has autism spectrum disorder (ASD), based on levels of metabolites in a blood sample. According to PLOS Computational Biology, where the researchers’ study was published, the algorithm looks at concentrations of substances produced by two metabolic processes, which both tend to be altered in children with autism. Juergen Hahn, one of the study’s authors, said the algorithm he and his colleagues developed is “the only one of its kind that can classify an individual as being on the autism spectrum,” or not. However, Hahn added that additional research is necessary to confirm their findings.
The results of the RPI researchers’ study could be seen as giving support to NeuroPoint’s approach of using metabolites as a target for an autism diagnostic. By contrast, most of the companies that have in recent years attempted to find a reliable blood-based test to diagnose ASD in children have tried to detect the disorder by examining genetic activity.
NeuroPoint’s test works by identifying imbalances in a patient’s metabolism, which can help clinicians diagnose neurodevelopmental disorders. Having specific information about the child’s condition could help healthcare providers develop more targeted treatment plans than is possible today, the company said.
Last week, NeuroPoint said that it had enrolled 1,100 children ages 18 months to 4 years in a clinical study of its test. The study, known as the Children’s Autism Metabolome Project, or CAMP, kicked off in September 2015. It’s is currently taking place at eight sites across the U.S., NeuroPoint said.
NeuroPoint previously said it was seeking to enroll 1,500 children in the study; it wasn’t clear from the company’s recent update on the study whether its goal is still 1,500 patients.
The CAMP study represents a key step in NeuroPoint’s effort to commercialize its test. The blood-based test could make it possible to diagnose children with ASD at earlier ages than is possible today. According to the Centers for Disease Control and Prevention, most children are not diagnosed with ASD until they are at least 4 years old, though there have been some instances of kids as young as 2 receiving ASD diagnoses. Many experts believe it’s important to diagnose the disorder as soon as possible because some studies have shown that treating ASD earlier in life can boost the child’s cognitive and social skills.
NeuroPoint said last week that it had validated a “first-generation autism diagnostic blood test panel” as part of the CAMP study. In a news release, the company said it had validated a dozen metabolic subtypes of ASD in the panel, which together account for about 30 percent of children with autism. If all goes as planned, NeuroPoint’s test will become available later this year, the company said.
“A manuscript [detailing key findings of the CAMP study] is in progress and will be submitted to a peer-reviewed scientific journal by the end of January,” Stemina co-founder and NeuroPoint CEO Beth Donley said in a prepared statement.
NeuroPoint’s $50,000 goal for its new crowdfunding campaign is a relatively modest amount, at least when compared to the cost of funding the CAMP study up to this point. The study has been supported by a $2.7 million grant from the National Institute of Mental Health, as well as a $3.8 million investment from the Nancy Lurie Marks Family Foundation, the company said.