On March 20, 2025, we hosted an APBD Biomarker Workshop that brought together over 20 APBD researchers and clinicians to address one of the most urgent challenges in developing effective treatments: identifying reliable biomarkers.
Identifying biomarkers in drug development involves using specific biological characteristics (such as genes, proteins, or metabolites, among others) to assess a drug’s efficacy, safety, and predict its response in different individuals. This process helps refine drug development efforts, improve clinical trial designs, and personalize treatment approaches. The Workshop highlighted several promising candidates, such as GFAP, NfL, Tau, and short glucan chains, and explored the potential of a composite biomarker panel to provide a clearer picture of disease over time.
🧠 What are biomarkers, and why do they matter?
Biomarkers are measurable signs of disease, like changes in protein levels in the blood or what our brain looks like on scans, that help us understand how a disease is progressing or how well a treatment is working. Having strong biomarkers that we can rely on makes it easier to design future clinical trials and get treatments approved faster for our community. APBD researchers are working to identify biomarkers that can show progression of disease in a shorter time frame (1–2 years), because it is unrealistic to have a decades-long clinical trial. This is especially important since APBD progression is relatively slow, and symptoms vary so much between patients.
🔍 Promising Biomarker Candidates
Ongoing studies are analyzing samples from blood, urine, and brain tissue to discover better biomarkers. The workshop highlighted several exciting leads:
- GFAP, NfL, and Tau – proteins found in blood or spinal fluid, already studied in other brain diseases
- Short chain glucans (Glc2, Glc4) – sugars that may be elevated in APBD
- Proteomics and metabolomics – advanced tools that look at patterns in proteins and metabolism
- MRI scans – may help detect glycogen changes in the brain
Researchers also discussed the potential of a composite biomarker panel – a combination of several markers that, together, give a clearer picture of disease progression if we can’t rely on just one measure. A similar approach is already being used in the APBD Symptom Questionnaire (APBD-SQ).
🔄 Better Sample Collection Equals Faster Progress
One key issue is that APBD patients are spread across many institutions, without a central system to track or share their symptoms and/or biological samples, which provide a key window into APBD.
What’s needed:
- A centralized biorepository to coordinate sample collection and sharing, with a repository committee to manage requests to access data from researchers
- Clear protocols for clinicians and researchers to collect samples and data (e.g., MRI, cognitive tests, walking assessments).
- You can help by asking your doctor to include certain tests during regular visits – like the MOCA test or motor assessments – even outside of clinical trials. Stay tuned for formal guidance on this in the future.
✅ What Comes Next?
3 key action areas emerged:
- Standardize clinical assessments
- Reach consensus on which tests patients should ask for regularly at their doctor’s visits
- Collect this data consistently over time
- Improve sample coordination
- Build a central system to track and share samples to improve research workflow
- Continue to advance biomarker research
- Focus on fundraising to keep exploring the idea of a composite panel of a core set of biomarkers for stronger insights.