Most children aren’t diagnosed with autism until they’re at least 4 years old, and that’s something many experts hope can change. As with many conditions, treating autism earlier in life is believed to boost a child’s cognitive and social skills in most cases.
Yet there’s currently no medical test to diagnose autism spectrum disorder, often called ASD, and experts typically diagnose the condition by assessing patient behavior. Stemina Biomarker Discovery has been trying to bring clinicians a new diagnostic tool. The company is co-leading a study that examines whether its test, which analyzes a child’s metabolism from a small blood sample, could make earlier diagnosis possible.
The multiyear study is still ongoing but Madison, WI-based Stemina and the University of California Davis’ Mind Institute published a paper earlier this month that released a few select results, giving insight into the company’s strategy for developing what could become the first autism diagnostic. Stemina CEO and co-founder Elizabeth Donley revealed more in an interview with Xconomy, noting that the company isn’t necessarily engineering a test for every child, but instead a test that might be given to kids with early indications of autism.
“We would be screening what I would call ‘at-risk’ children,” Donley says. “We wouldn’t expect that this test would be given to a child that seems to be typically developing. The population that we would target with the test are kids that are experiencing a developmental delay.”
Doctors and other clinicians would decide which children to screen from their scores on what’s known as the Modified Checklist for Autism in Toddlers, Donley says. Other candidates for Stemina’s test would include children whose speaking and walking abilities are developing behind schedule and those who have an older sibling who has been diagnosed with autism, she adds.
The ongoing Stemina study, known as the Children’s Autism Metabolome Project, or CAMP, has enrolled 1,100 patients ages 18 months to 4 years, Stemina says. Some of them have clinically confirmed ASD or a developmental delay, while other participants in the study have typical development.
The CAMP study is the largest-ever study of metabolism in children with ASD, and has cost $8 million to date, Donley says. The goal is to identify specific subtypes of ASD based on abnormalities in how patients metabolize certain amino acids that are important to typical neurodevelopment, the company says.
The Stemina test measures residues in the blood called metabolites in order to identify imbalances in a patient’s metabolism; such imbalances can aid clinicians in diagnosing neurodevelopmental disorders.
One discovery that might help the company do so, which the researchers highlighted in the paper published in the journal Biological Psychiatry, was that about 17 percent of children with ASD who participated in the study had irregular proportions of amino acids in their blood. That finding may help Stemina narrow down what to test for to identify children with ASD.
The CAMP study organizers plan to analyze amino acid levels in blood samples of the other 420 children enrolled in the study, which Donley says could lead to one or more additional diagnostic panels.
“This is the first of hopefully many panels that will identify other subsets of kids with autism,” David Amaral, founding director of research at the Mind Institute, says in that organization’s announcement of the study data. “The long-term vision is, once we’ve been able to analyze all the data from CAMP, we would have a series of panels. Each of these would be able to
