International Pompe Day 2026: Top News and Expert Insights

According to the National Organization for Rare Disorders, Pompe disease occurs in approximately 1 in 40,000 births in the United States and the Netherlands; however, in some populations, the incidence is substantially higher.¹ Over the past year, NeurologyLive® has covered news and clinical trial data updates related to the various therapies currently in development for Pompe disease and conducted interviews with experts to discern the potential for new research and treatments to affect the care paradigm.

For International Pompe Day, observed annually on April 15 by the patient and clinician communities, the NeurologyLive team has gathered some key news stories and interviews on Pompe disease below to offer an overview of the progress being made for this rare disease.

AT845 Gene Therapy Shows Stable Muscle, Respiratory Function in Early Pompe Disease Trial

March 11, 2026 — Investigational gene replacement therapy AT845, designed to deliver the human acid alpha-glucosidase (GAA) gene to muscle tissue, showed an acceptable safety profile and stabilization of respiratory and functional outcomes in adults with late-onset Pompe disease (LOPD). The findings come from an interim analysis of the ongoing multicenter, open-label, ascending-dose phase 1/2 FORTIS trial (NCT04174105).
The FORTIS Study, led by Tahseen Mozaffar, MD, director of the UCI Health ALS & Neuromuscular Center in Orange Claifornia, enrolled 11 with LOPD who received a single intravenous infusion of AT845. Participants were treated at doses of 3 × 10¹³ vector genomes (vg)/kg (cohort 1; n = 2) or 6 × 10¹³ vg/kg (cohort 2; n = 9). At baseline, patients ranged in age from 24 to 70 years (median, 52 years) and had received enzyme replacement therapy (ERT) for a median of 11 years (range, 2–17).

Follow-up ranged from 24 weeks to 4 years at the July 22, 2025 data cutoff. Overall, results showed that all participants demonstrated increases in vector copy number in muscle within 3 months of dosing, although GAA protein expression and enzyme activity levels varied.

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AskBio’s Late-Onset Pompe Disease Gene Therapy AB-1009 Cleared for Phase 1/2 Trial

January 22, 2026 — AskBio’s investigational new drug (IND) application for AB-1009, a gene therapy candidate intended to treat LOPD, has been cleared by the FDA.

In light of the IND clearance, AskBio has launched the phase 1/2 AB-1009 PROGRESS-GT LOPD clinical trial (NCT07282847). The company expects that the first patient will be enrolled in “early 2026”.

AskBio noted that AB-1009 also recently received fast track and orphan drug designations from the FDA. The company also stated that Belief BioMed Inc., Genethon, and Duke University collaborated on AB-1009's advancement to the clinical stage.

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Newborn Screening, Enzyme Delivery, and the Future of Pompe Disease Treatment

May 14, 2025 — Pompe disease, also known as glycogen storage disease type II (GSD II), is a genetic disorder caused by a deficiency of the acid alpha-glucosidase (GAA) enzyme, due to recessive mutations in the GAA gene, which leads to the accumulation of lysosomal glycogen, affecting the skeletal and cardiac muscle tissue. The disease, which impacts around 1 in 40,000 people worldwide, is typically managed through enzyme replacement therapy (ERT), in addition to supportive and symptomatic care.

At the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific conference, held March 16-19 in Dallas, Texas, a track session focused on the mechanisms, therapeutic advances, advocacy, and integrated care approaches of Pompe disease. Chaired by Priya Kishnani, MD, the research track was put together in partnership with TREAT-NMD, with Kishnani’s presentation focusing specifically on the historical learnings from pre-ERT to current ERT landscape in Pompe disease.

Kishnani, a professor of pediatrics and division chief of Medical Genetics at Duke University, sat down with NeurologyLive to discuss her presentation and the evolving treatment landscape of Pompe disease. She detailed key advances in understanding the disease’s mechanisms, including its systemic effects on autophagy and mitochondrial function, and emphasizes lessons learned from ERT, including targeting limitations and immunogenicity challenges. Kishnani also outlines the field’s forward momentum toward combination strategies, immune tolerance approaches, and gene-based therapies.

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ABX1100 Demonstrates GYS1 mRNA Knockdown and Early Functional Signals in Phase 1b Trial for Late-Onset Pompe Disease

March 17, 2026 — Aro Biotherapeutics has reported positive topline results from the phase 1b portion of its clinical trial (NCT06109948) evaluating ABX1100, an investigational CD71-targeting Centyrin-siRNA conjugate designed to reduce glycogen synthase 1 (GYS1) expression in muscle tissue, as an add-on to enzyme replacement therapy (ERT) in 9 patients with LOPD. The therapy achieved approximately 62% GYS1 mRNA knockdown in the quadriceps through Week 10 across all evaluable patients following a 2-dose intravenous loading regimen administered on Days 1 and 29. Residual siRNA and mRNA levels observed at Week 16 suggest that quarterly or less frequent maintenance dosing may be feasible beyond the loading phase.

On exploratory functional and biomarker end points, a mean improvement in forced vital capacity percent predicted (FVC %pred) of approximately 2.5% was observed at 5 months in 7 evaluable patients, with more pronounced gains noted in those with moderate to severe disease. Reductions in creatine kinase and urinary Hex4—markers of muscle injury and glycogen load, respectively—were observed in a majority of patients at Week 10, directionally consistent with the degree of target knockdown. The lead investigator noted that these functional findings are preliminary, based on a small cohort and limited follow-up period, and require confirmation in larger, longer-duration studies.

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REFERENCES
1. Reuser AJJ, Dyck JHA. Pompe Disease. National Organization for Rare Disorders (NORD) website. Updated October 6, 2021. Accessed April 14, 2023. https://rarediseases.org/rare-diseases/pompe-disease/