Researchers may be on the verge of finding biomarkers to help detect autism.

Last year, a team of University of California-Davis scientists released a study that linked a widespread autism spectrum disorder (ASD) subtype to autoantibodies in the diagnosed patient’s mother.

The researchers took blood samples from 68 mothers in Pennsylvania and Arkansas who have children diagnosed with ASD.

They detected in 16, or 24%, of the mothers patterns that can lead to their child’s diagnosis of maternal autoantibody-related (MAR) autism.

“This pilot study supports the potential usefulness of positive MAR autoantibodies as biomarkers of ASD risk,” the study concluded.

One of the study authors is Dr. Judy Van de Water, a longtime UC Davis health system professor, and founder of MARABio, a company that holds rights to her scientific findings.

MARABio represents a new frontier in the search for biological factors that may cause autism. If the company can fulfill its stated mission, a child may be able to receive an ASD diagnosis before they are born. Currently the median age of an ASD diagnosis is five years old.

MARABio and other companies pursuing autism biomarkers could also help improve the effectiveness of autism therapy and applied behavioral analysis (ABA) providers.

“I am happy to hear innovations are being made in the diagnostic space that will support families and children to be diagnosed sooner and possibly more efficiently,” Leila Allen, a spokesperson at Lighthouse Autism Center, an autism therapy provider based in Mishawaka, Indiana, told Autism Business News. “Earlier access to ABA is only going to benefit children and their families.”

Still, the extensive use of early diagnostic tools face practical concerns.

MARABio’s Vision

Van de Water founded MARABio in 2018 as she was conducting research in California on MAR autism, a subtype that she repeatedly found in about 20% of patients diagnosed with ASD.

In 2021, Van de Water brought on for consulting Dr. Michael Paul, the former CEO and president of Lineagen, a Salt Lake City-based biotechnology company that worked to identify new genetic markers for autism.

Paul became CEO in 2023 and MARABio’s headquarters are now in Salt Lake City. Last month, MARABio announced they raised $19 million in Series A funding.

Paul told ABN that he envisions a world in which parents can know even before they are pregnant if a child of theirs would be diagnosed with MAR autism.

“We have developed a proprietary blood test for women to accurately determine if they are carriers of the antibodies that cause MAR,” he said.

Once the blood test goes to market, it will be available for health care providers to administer to mothers either before or after a pregnancy. It is not clinically validated to be given during a pregnancy, Paul said.

Autism therapy providers said they would welcome almost any test that could accelerate the current prognosis timeline.

“I am in the Philadelphia area where it takes 18 months, if you are lucky, to get a diagnostic appointment,” Fali Sidhva, CEO of Helping Hands Family, a King of Prussia, Pennsylvania-based autism therapy provider, told ABN.

If a child tests positive for MAR autism, Paul said that therapeutic interventions before the patient is two years old, which are essentially unheard of today, could “capitalize on the plasticity of the developing brain and its capacity to form neural connections.”

MARABio is working on therapeutic interventions that could inhibit the transfer of autoantibodies across the placenta, Paul said. Also, the company is pursuing partnerships with behavioral health providers and other diagnostic start-ups including Cognoa, which has a machine learning tool to detect autism through remote, digital evaluations.

Where Early Diagnoses Are Today

MARABio’s blood test, though, is not quite ready for market.

Paul said that the test is currently being validated for compliance with laws including the Clinical Laboratory Improvement Amendments, and that it has yet to come before the Food and Drug Administration (FDA) for clearance.

The therapeutic interventions, meanwhile, are at their preclinical stage, Paul said.

While other companies’ tests do not aim for a diagnosis as early as MARABio, a couple are further along.

Cognoa received FDA clearance for its artificial intelligence tool to test and track for ASD, and earlier this year, it announced that Highmark would be its first payer partner.

EarliTec Diagnostics also received FDA clearance for its EarliPoint Evaluation tool that uses eye-tracking technology to detect ASD in children 16-30 months old. The company announced in April that it raised $21.5 million in Series B funding.

Jonathan Burkett, a spokesman for EarliTec Diagnostics, told ABN that it has sold its evaluation tool directly to pediatricians and health care facilities that test children for ASD.

Other businesses are also vying to sell eye-tracking products, including Autism Eyes, a diagnostic tool developed by Cleveland Clinic Innovations.

Some in the field hope to use eye-tracking as an autism therapy.

“EarliPoint does not stop at diagnosis,” Burkett said. “It also tracks the child’s progress over time, comparing it to their official baseline.”

Lingering Concerns

The demand for an earlier ASD diagnosis comes not just from providers, but parents. A study this August from the Journal of Neurodevelopmental Disorders found that 97% of parents with experience caring for an autistic child, and 68% of parents without experience, would be interested in biomarker-based testing to learn if their infant was likely to develop autism.

But the study also notes, “The evidence base for very clear early intervention is nascent.”

There is also an ethical question, the study concluded, about how best to support families who learn their child is likely to develop autism before the symptoms are exhibited. A few parents surveyed wondered if being diagnosed with ASD at infancy was too heavy a label to bear, and if it would be a self-fulfilling prophecy that their child was developmentally disabled.

Providers also walk a fine line, wanting to avoid getting too close with diagnostic companies, which may raise a conflict of interest.

“A provider has a vested interest in the testing coming out positive,” said Sidhva of Helping Hands Family.

Perhaps the biggest issue going forward is how soon commercial payers and Medicaid will cover a biomarker test.

“Will insurance companies accept it as a valid test?” Sidhva said. “Insurance companies are, and should be, quite discerning and skeptical.”

Still, the CEO said he is optimistic about the long-term possibilities of biomarkers.

“Anything that proves to be an early, viable test is going to be fantastic.”