A Madison company that says its findings will “revolutionize” the way autism spectrum disorder is diagnosed and treated is getting a boost from a scientific publication.
Research conducted by Madison-based NeuroPointDX in collaboration with the MIND Institute at the University of California-Davis shows subtle differences in blood can identify some children as young as 18 months with autism spectrum disorder.
The findings are being published Thursday in a peer-reviewed scientific journal, Biological Psychiatry, for the first time, and a blood test for autism is expected to be available before the end of the year, NeuroPointDX CEO Elizabeth Donley said.
In the largest study that’s been conducted on the metabolism of children with autism, NeuroPointDX discovered three panels of biomarkers that are shared by one of every six children diagnosed with autism who participated in the study.
NeuroPointDX’s Children’s Autism Metabolome Project, or CAMP, studied blood tests from 1,100 children between 18 months old and 4 years old at eight locations around the U.S. over more than three years.
It showed that when plasma from 516 children with autism spectrum disorder was compared with that of 164 children of similar ages without the disorder, abnormalities in three amino acid groups were identified in 16.7 percent of the children with autism.
The three biomarker panels were detected with a high level of accuracy. “If the child is in one of the metabolic subtypes, we will be able to identify it in 96.3 percent of the cases,” NeuroPointDX CEO Elizabeth Donley said.
She said the results mean that an analysis of biomarkers “will let us diagnose kids as young as 18 months and to give insight into what is different in their metabolism.” Current tests, based on behavior and developmental milestones, are not conducted until children are at least 2 years old, she said.
Donley said having the results published “demonstrates the strength of the research and its uniqueness. … It’s a validation of all of the work that we’ve done and the richness of the CAMP study design.”
Blood test for autism
Donley said NeuroPointDX plans to make a blood test available by the end of 2018 to screen for the three biomarker panels. The test, to be drawn first-thing-in-the-morning, did not need approval from the U.S. Food and Drug Administration but instead will be handled by state-regulated clinical laboratories. It’s already been approved for use in 45 states, including Wisconsin, she said.
But it’s just the beginning. The three biomarker panels described in the journal article are among 12 biological subtypes of autism the CAMP study has identified. Donley has said the markers, showing differences in the way some children’s bodies process certain amino acids, account for about 30 percent of children with autism.
“It is unlikely that a single marker will detect all autism,” said David Amaral, of the MIND Institute, lead author of the journal article. “This paper demonstrates that alterations in metabolic profiles can detect sizable subsets of individuals with autism.”
Donley said over the next few years, researchers hope to identify the metabolic differences that account for as much as 70 percent of those on the autism spectrum and to learn enough about the biology involved to prescribe a specific treatment for each individual. Changes in diet, dietary supplements or medications could prove useful, she said.
“We know a patient who has diabetes can be treated with managed diet and insulin, if necessary. Here, we are looking at biomarkers in blood — amino acids rather than sugars. … They come from what we eat,” Donley said.
Geraldine Dawson, director of the Duke Center for Autism and Brain Development at Duke University, said a reliable, early biological marker is a critical need in the autism field. “The sooner families can receive information that their child is at high risk for autism, the sooner they can begin effective behavioral or other therapies,” said Dawson, who was not involved in the study.
As for how to decide which 18-month-olds should be tested for autism, Donley cited a Centers for Disease Control and Prevention study that showed about 17 percent of children have developmental delays. “That is the population of patients that we would want to reach first,” she said.
Donley said she thinks the study will provide data for autism research for years to come. “With this CAMP study and our very highly precise metabolomics platform, it’s a whole new way of diagnosing and treating autism,” she said.
NeuroPointDX is a division of Stemina Biomarker Discovery, a Madison company that has been exploring the biological differences related to autism for eight years.
The company, at 504 S. Rosa Road, has 12 employees and two full-time consultants, all in Madison. Donley also has a part-time office in Cambridge, Massachusetts.
Stemina and NeuroPointDX have raised $15.2 million from investors and from the Nancy Lurie Marks Family Foundation and the Robert E. and Donna Landreth Family Fund. Another $7.5 million in grants have been awarded, including $2.7 million from the National Institute of Mental Health.