Top 5 Pompe disease stories of 2025
Advances in treatment, diagnosis were focus of this year's most-read news
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Throughout 2025, the team at Pompe Disease News has brought readers updates on emerging treatments, scientific advances, and clinical findings in Pompe disease. Here is a list of the top 5 most-read news stories of this year. We are grateful to have had the opportunity to support people living with Pompe, their families, and caregivers, and we look forward to providing timely, trustworthy news again in 2026.
No. 5 – Amino acid supplement may aid LOPD patients
A study of muscle tissue found that levels of L-arginine, a specific amino acid, or building block of proteins, were lower in people with late-onset Pompe disease (LOPD) than in healthy individuals serving as controls. Other cellular processes, such as autophagy, in which cells are broken down and old cell parts are reused, were also seen to be altered in the muscles of LOPD patients. The scientists suggested that supplementing these patients with L-arginine could become a treatment option in Pompe.
No. 4 – New approach may correct genetic defect in LOPD
Researchers developed and are advancing a new approach that corrects the cellular effects of a common genetic mutation in people with LOPD. In lab tests, the approach successfully increased the activity of the acid alpha glucosidase (GAA) enzyme, the loss or impairment of which underlies Pompe disease. According to the investigators, the U1 snRNA tool, intended to normalize a process in which a template molecule for protein production is made, may also correct defects caused by other, less common mutations.
No. 3 – Early, higher-dose ERT leads to normal development in girl with IOPD
A pilot study reported that starting enzyme replacement therapy (ERT) at higher than approved doses (40 mg/kg per week) shortly after birth helped a girl with infantile-onset Pompe disease (IOPD) reach all developmental milestones by age 7. By that time, she was performing well in school and maintaining normal daily activities. The researchers said this case illustrates how early diagnosis and prompt higher-dose ERT may offer meaningful benefits for IOPD.
No. 2 – Woman’s Pompe diagnosis comes after decades of atypical symptoms
A case study described a woman with LOPD whose path to diagnosis spanned decades, following atypical and slowly progressive muscle weakness affecting the eyelids, face, and throat. A diagnosis was ultimately reached through genetic testing and an assay that tests the activity of the GAA enzyme. Several other genetic and metabolic diseases had been considered.
No. 1 – New ERT clears glycogen from muscle and brain cells
Scientists at Sanofi have developed a type of ERT that can clear the excess glycogen that causes Pompe not only from muscle cells, but also from the brain and spinal cord — areas that current ERTs cannot reach. In mouse studies, this new treatment also cleared more glycogen from skeletal muscle than two approved ERTs marketed by Sanofi, suggesting it may offer broader and clinically meaningful benefits.
We hope these stories, and all our reporting this year, have been a valuable resource for the Pompe community. As we enter 2026, we look forward to continuing this work and wish all our readers a happy new year.
