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New biomarker may help track Pompe brain disease
The study found the marker may help identify children at risk of CNS disease and support trials of treatments designed to cross the blood-brain barrier.
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Malvika Choudhary - Fri, 03, Apr 2026
- 12:32 EDT
- 9
Priya Kishnani / Duke University
Researchers at Duke University School of Medicine have identified a potential biomarker that could help detect and track brain involvement in Pompe disease, a rare genetic disorder.
The study, led by Priya Kishnani, chief of the Division of Medical Genetics at Duke University School of Medicine and the Chen Family Distinguished Professor of Pediatrics, was published in eBioMedicine.
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It examined glial fibrillary acidic protein (GFAP), a biomarker associated with astrocyte activity in the brain, as a possible tool to assess neurological involvement in Pompe disease.
Pompe disease is currently treated with alglucosidase alfa, an enzyme replacement therapy developed at Duke and approved by the U.S. Food and Drug Administration in 2006. While the treatment remains the standard of care, it does not cross the blood-brain barrier, leaving CNS-related symptoms untreated as patients live longer.
Nearly all patients with Pompe disease develop sensorineural hearing loss, while other neurological symptoms can include swallowing difficulties, slow or slurred speech, foot-slapping gait, and, in more severe cases, seizures and encephalopathy.
“As these children and young adults age, they are developing signs and symptoms of CNS involvement, so we need a reliable biomarker to track this,” Kishnani said.
GFAP is linked to astrocytes, star-shaped glial cells in the CNS that help maintain brain structure and function. Researchers said it may offer a more CNS-specific alternative to neurofilament light chain, a commonly studied but less specific biomarker used in neurodegenerative diseases.
The team also found evidence of white matter hyperintensity, or bright spots on MRI scans that can indicate damage to the brain’s white matter.
“We are seeing increases in white matter hyperintensity over time in some,” said Kristen Hagarty-Waite, postdoctoral associate and co-author of the study. “So figuring out how GFAP correlates and changes over time helps us build a picture of what can happen.”
Hagarty-Waite said the findings could help establish clinical trial endpoints for new therapies designed to cross the blood-brain barrier.
“This gives us an idea of a clinical trial endpoint for blood brain barrier crossing treatments, which are currently being developed, but we need to create the infrastructure to show industry how important this is,” she told the University’s press.
The researchers said the findings suggest GFAP may more accurately reflect the extent of neurological involvement in Pompe disease and could help identify children at risk of developing CNS disease, while also tracking progression and response to emerging treatments.
Kishnani, whose research focuses on the long-term complications of genetic and lysosomal disorders including Pompe disease, has been involved in translational and clinical research aimed at developing new therapies such as enzyme replacement and AAV gene therapy. Her work has also contributed to large multicenter trials evaluating the safety and efficacy of treatments for rare genetic disorders.
“This is an exciting new biomarker that could give us a more complete story that will track disease progression and treatment response,” Kishnani said.
Kishnani received her M.B.B.S. from the University of Bombay, St. Xavier College in India and is a member of the Duke Clinical Research Institute.
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