Company hopes test will revolutionize autism diagnosis, treatment

Stem cell research company plans to introduce blood test in 2017
Company hopes test will revolutionize autism diagnosis, treatment
Danielle Tolzmann and her son, Chazz.

Madison stem cell research company Stemina Biomarker Discovery plans to introduce a metabolism-based autism blood test to the public in 2017.

“What we hope this will do is revolutionize the way we diagnose and treat autism, so that we can both diagnose sooner and focus treatment,” Stemina CEO Beth Donley said. “So that parents aren’t going to the Internet unarmed with diagnosis, wondering ‘What thing should I try first with my child and how do we get there?'”

Donley said the large machines in the back of Stemina’s west Madison laboratory, knows as “time of flight mass spectrometers,” are Stemina’s autism keys. The TOFs study spread out blood samples that fly in order to carefully scrutinize if the chemical changes occurring in child’s cells, their metabolism, are triggering special autism signals.

“If we can understand which biomarkers signal a child who’s not able to process those things well, then we might be able to suggest that may be the first line of defense,” Donley said.

Defenses that are similar to doctors discovering high blood sugar in someone with diabetes and changing their diet or adding insulin. This autism blood test is looking for problems like a carnitine deficiency, which helps break down fat, or negative gluten reactions.

“And if we can change diet we should see an improvement both in those antibodies and the behavior that’s associated with autism,” Donley said.

Behaviors associated with autism include fascination with objects, avoiding eye contact and challenges with social situations.

Millions of families struggle with the heartbreaking and complex brain development disorder. The latest Centers for Disease Control and Prevention numbers, which includes data collected in Wisconsin, shows one out of every 68 U.S. children is on the autism spectrum.

Donley said she knows the heartache that comes from autism because her son is the inspiration for the revolutionary blood test. She did not realize he was actually autistic until age 15. More than a decade after showing first signs of autism, and eight years after being diagnosis with Pervasive Developmental Delays Not Otherwise Specified, it was not until Donley was doing research on autism she realized PPD-NOS was on the autism spectrum.

As Donely presents her findings to groups she is always happy to tell how her now 18-year-old son is doing better, thanks in part to diet changes.

“And I think it’s a frontier of science that will continue to expand,” Donley said.

In fact, the major scientific journal PLOS ONE just published Stemina’s research, showing in 81 percent of cases they have successfully detected children as young as 4 being on the autism spectrum.

Donley said Stemina has conducted two additional studies with where the age of the children was as young as 18 months and they were able to maintain about the same level of accuracy.

Much earlier treatment is a reason Donley is especially excited about the possibility this test holds, since the earlier treatment the better because until age 11, the brain is relatively plastic and earlier intervention can help aid in more typical neuro-development.

Stemina will start a clinical trial for 1,500 patients early next year with the goal to have the test available to everyone by 2017.

Since Stemina’s test is a lab-developed test it does not have to go through standard FDA approval but Donley said she’ll work with the FDA anyway just in case something changes.

“Personally, as a parent of a 13-year-old son on the spectrum, I think any tool that makes diagnosis less subjective is good for families. I agree completely. Early intervention offers the best chances for success in the future, without question,” Autism Society of South Central Wisconsin Board of Directors President Danielle Tolzmann said. “It’s also interesting because for a long time many families heard from physicians that ‘diets don’t work.’ This research demonstrates to the contrary and gives some traction to many longstanding parent claims that diet really can have an impact on behavior.”

While Tolzmann said members are truly excited about this news, their concern turns to patients who may receive false negatives, or if this test becomes the single diagnostic tool.

“I’m interested in how this single tool can detect something that effects a variety of people in a variety of ways, and if the tests’ developer has recommendations for how the remaining 20 percent of cases can still be identified so that they too can access early intervention services,” Tolzman said. “While I may have some questions, I am very excited about this new development and how it can help families access early intervention therapy services far sooner than parents might otherwise know it’s needed.”