Autism metabolic signatures

Post Reply New Topic

Scientists at NeuroPointDX in collaboration with researchers at the UC Davis MIND Institute and other institutions across the country, have now reproducibly identified unique metabolic signatures—called metabotypes—in more than 50% of the children from the Children’s Autism Metabolome Project (CAMP).

CAMP is the largest study yet undertaken of the metabolism of children with autism spectrum disorder (ASD). The new findings, published online this week in Autism Research, are an important step towards the development of metabolomics tests that could form the basis for a biological screen of risk for ASD.

Analysis of other potential blood-based biomarkers using CAMP study samples is ongoing. Validation of additional metabotypes of ASD is expected to result in the ability to detect a still higher percentage of children at risk of ASD using this approach.

“A primary goal of the CAMP study, which recruited 1,102 children ages 18 months to 48 months, was to generate a panel of validated biomarkers that, taken together, could detect a large proportion of young children at risk for ASD,” said David Amaral, Ph.D., distinguished professor at the UC Davis MIND Institute, the Department of Psychiatry and Behavioral Sciences at UC Davis, and the paper’s senior author. “

According to Amaral, the new paper builds on CAMP’s original analyses, published last year in Biological Psychiatry, which identified and validated a set of metabotypes based on differences in branch chain amino acid metabolism. The metabotypes from that study represented 17% of the children with autism in CAMP. Along with the new research, the result is in an optimized set of 34 newly defined metabotypes based on amino acid and energy metabolism. This test battery now detects 53% of subjects with ASD in the CAMP study with 91% specificity.

Robert Burrier, Ph.D., chief operating officer of NeuroPointDX parent company Stemina Biomarker Discovery, and co-author noted that “Using metabolomics to detect objective biomarkers of ASD is a promising approach because metabolism is sensitive to interactions among the genome, gastrointestinal microbiome, diet, and environmental factors that all contribute to risk of ASD.”

While the published findings are based on blood samples from children 18 to 48-months-old, the researcher expect to next validate this metabolomics approach in children younger than one year old when current diagnostic procedures are lacking. Future research will also explore whether these metabolic differences can lead to insights for more targeted treatment options for children with ASD.

“The CAMP study is the seminal study of the metabolism of children with autism. The study was carefully designed to allow discovery and validation of subpopulations of children with ASD who share common metabolic differences from typically developing children,” said Elizabeth Donley, NeuroPointDX CEO and a co-author of the publication. “We strive to discover, validate and publish peer reviewed science from this ground-breaking study with the goal of building trust in the rigor of our science and its potential to change how autism is diagnosed and treated.”