New and Advanced Biomarker Could Guide Future Brain-Targeted Therapies for Pompe Disease

In April 2026, researchers at Duke University School of Medicine are investigating a potential biomarker to improve the detection and monitoring of central nervous system (CNS) involvement in Pompe disease. This is a metabolic disorder that leads to muscle weakness, respiratory failure, and heart problems.

The standard treatment for Pompe disease is alglucosidase alfa (Myozyme/Lumizyme), an enzyme replacement therapy developed at Duke and approved by the FDA in 2006. However, it does not cross the blood-brain barrier, which leaves CNS symptoms unaddressed as patients age. Almost all patients with Pompe disease experience sensorineural hearing loss, alongside other symptoms such as difficulties with swallowing, slow or slurred speech, and a foot-slapping gait. In severe cases, patients may experience seizures and encephalopathy.

In a study led by Priya Kishnani, MD, Chen Family Distinguished Professor of Pediatrics, and published in eBioMedicine, the team evaluated glial fibrillary acidic protein (GFAP), a biomarker associated with astrocyte activity in the brain.

According to Precedence Research, the CNS biomarkers market size was USD 7.80 billion in 2025 and is projected to increase from USD 8.81 billion in 2026 to approximately USD 26.13 billion by 2035, expanding at a CAGR of 12.90% from 2026 to 2035, driven by the growing demand for early & precise diagnosis, rising shift to blood-based diagnostics, increasing global cases of neurodegenerative diseases, rapid advancements in biomarkers technologies, and rising public-private investments in clinical trials for disease-modifying therapies.

Astrocytes are star-shaped glial cells in the CNS that help form the structure of the brain. The GFAP biomarker may be a more CNS-specific alternative to the commonly studied neurofilament light chain, which is a non-specific early-stage biomarker used in neurodegenerative diseases.

Kristen Hagarty-Waite, PhD, postdoctoral associate and co-author, has been focusing on the more severe end of the disease spectrum to determine what the biomarkers look like. “This gives us an idea of a clinical trial endpoint for blood-brain barrier crossing treatments,” she also stated, “which are currently being developed, but we need to create the infrastructure to show industry how important this is.”