Why biomarkers matter—and what they mean for ASXL-related disorder research
At the ASXL Rare Research Endowment (ARRE) Foundation, we often talk about preparing for future clinical trials. But there’s a critical piece of the puzzle that can help determine whether a trial succeeds or fails: biomarkers.
You may have heard this term before—but what is a biomarker, and why is it so important for individuals with ASXL-related disorders like Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3)?
What is a biomarker?
A biomarker (short for biological marker) is something that can be measured in the body to indicate a biological state. Think of it like a signpost. It might show whether a disease is present, how severe it is, or whether a treatment is working. Some common examples include blood pressure (used in heart disease), blood sugar levels (used in diabetes), or brain activity measured by EEG (electroencephalogram).
In rare neurodevelopmental disorders, good biomarkers are hard to come by—but they are essential for designing effective clinical trials. They help researchers know what to measure, how to measure it, and when to measure change. Without biomarkers, it’s much harder to test if a drug is actually helping.
What’s happening in ASXL research?
Two exciting studies in our community are helping to identify potential biomarkers for ASXL-related disorders—each offering a different window into how these conditions affect the body and brain.
Dr. Rujuta Wilson’s work: tracking motor function and developmental "inchstones"
Dr. Rujuta Wilson and her team at UCLA are building quantitative ways to track motor development in individuals with rare neurodevelopmental disorders. Her CHAMPION study focuses on subtle, measurable aspects of movement—like gait, posture, and balance. This kind of work could give us tools to monitor developmental progress over time in a rigorous, consistent way.
In 2022 and again in 2024, Dr. Wilson collected data at the ASXL Family Conference in collaboration with Dr. Bianca Russell and Dr. Natasha Ludwig. You can read an update on her work here: Wilson Motor Lab Update (ARRE Foundation)
Dr. Abby Dickinson’s work: investigating EEG as a potential biomarker
In a separate study led by Dr. Bianca Russell—with critical EEG interpretation by Dr. Abby Dickinson—researchers are exploring how brain wave patterns might differ in individuals with Bohring-Opitz Syndrome. Their early findings suggest a distinct EEG signal may be present across many individuals with ASXL-related disorders. If this signal turns out to be drug-responsive or correlated with clinical symptoms over time, it could become a non-invasive and powerful biomarker.
This research was recently accepted as a platform presentation at the upcoming Smith Meeting this August—an exciting recognition for such early but promising work. Learn more about the BOS EEG Study
Why this matters for our future
Both of these studies move us closer to the ultimate goal: preparing for clinical trials. When a treatment is ready to test, researchers will need reliable ways to measure whether it works. That’s exactly what Dr. Wilson and Dr. Dickinson are helping build—robust, trackable, and meaningful tools that can capture change.
We’re proud to have served as the primary recruitment partner for both studies, helping connect families with researchers working on high-impact projects. While ARRE Foundation did not directly fund these efforts, we remain deeply invested in supporting the kind of infrastructure that will make future treatments possible.
How you can support research
All the critical data needed for developing biomarkers comes from ASXL families who participate in research. You can be part of the hope for the future by joining the ASXL-Related Disorders Natural History Study, a study funded by the ARRE Foundation. Learn more about this study and how to enroll.
