A Personalized-Medicine Example with FRAT® Testing
Cell-El’s Precision Medicine series #2
Why folate biology comes up in ASD
A key concept here is cerebral folate deficiency (CFD)—often described as low levels of active folate in the central nervous system (typically measured as 5-MTHF in cerebrospinal fluid), which can occur even when blood folate looks normal. Symptoms associated with CFD can include developmental delay or regression, speech/language difficulties, hypotonia (low muscle tone), coordination/balance issues, and seizures in some children. Click here, for further research.
Just as important: these symptoms are not unique to CFD—they overlap with many neurologic and medical conditions, which is why evaluation and testing should be clinician-guided.
FRAT® testing as a practical biomarker example
Some children with autism have folate receptor alpha autoantibodies (FRAA), which may interfere with folate transport (including transport across the blood–brain barrier).2
FRAT® is a blood test designed to detect these autoantibodies, and it’s a clear example of biomarker-guided decision-making: rather than “try it and see,” you can sometimes identify a biologic subgroup that may be more likely to respond. This is personalized medicine in action. If a child tests positive to FRAA, they will likely have a positive response to Leucoverin.
A successful response to Leucoverin treatment often requires the child to have additional biomarker tests as well as necessary intervention for any ASD related issues (e.g. epilepsy, gastro or mitochondrial) that they have.
What improvements do families most often talk about?
The most commonly discussed and studied improvements with leucovorin are in speech, language, and communication—for example, more spontaneous language, more attempts to communicate, and improved dialogue. In Dr. Richard E. Frye’s work on folate biology in ASD, communication gains are a central theme, and his Frontiers mini-review specifically discusses FRAA, folate transport, and response patterns in ASD.2 For more details, watch video below.
Conclusion
In many ways, Leucovorin and FRAT® testing illustrate the direction ASD care needs to go: away from one-size-fits-all approaches and toward biomarker-informed, individualized decisions. Dr. Frye’s body of work highlights a practical framework: identify a biologically relevant subgroup (such as children with FRAA), choose a targeted intervention to discuss with a clinician, and track outcomes with clear goals (often communication). This is exactly why Cell-El is investing in biomarker development for ASD—not only to support diagnosis, but to help enable the next step: personalized medicine, where measurable biology helps guide which options are most likely to be worth considering for a given child.
2. Blocking and Binding Folate Receptor Alpha Autoantibodies Identify Novel Autism Spectrum Disorder Subgroups
Authors: Richard E. Frye, Leanna Delhey, John Slattery, et al.
Publication: Frontiers in Neuroscience March 9, 2016
Help Us Help You
Better diagnostics for ASD based on laboratory-measured objective biomarkers can possibly enable researchers and clinicians to provide more precise and personalized treatment. You too can make a difference in the lives of children with ASD and their families by joining the Cell-El study. Cell-El is recruiting mothers and their infants aged 10-18 months who have not been diagnosed with ASD but who have a sibling diagnosed with ASD.
Please contact Leah at [email protected] or fill out the form to find out about eligibility to participate in our diagnostic study and please help spread the word about the Cell-El study. Sharing our study will enable our important biomarker diagnostic tool to be integrated into autism treatment as quickly as possible.