Pompe Disease Treatment and Research Pipeline
A plain-language guide to therapies available today and treatments currently under study.
Research into treatments for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart. continues to evolve. This page is intended to help patients, families, and healthcare professionals understand the treatment options currently available, as well as therapies under investigation in clinical trialsA research study that tests new treatments or approaches in people.. It is organized by availability: treatments in use today, followed by therapies still being studied.
Important Disclaimer
The Acid Maltase Deficiency Association (AMDA) provides this information for educational purposes only. Inclusion on this page does not constitute endorsement of any company, product, investigational therapy, or clinical trial. Investigational therapies have not been demonstrated to be safe or effective and may not be approved by regulatory authorities. Patients should discuss treatment decisions and clinical trial participation with their healthcare providers.
Currently Available
Enzyme replacement therapy (ERT)A treatment that replaces the missing enzyme through IV infusion. has been the standard of care for Pompe disease since 2006. ERT is delivered by regular intravenous infusion and works by replacing the missing or deficient GAA enzymeA protein that helps the body carry out chemical reactions..
Sanofi
Approved for Pompe disease of all ages and types, including infantile-onset. This expanded approval, in 2014, replaced the earlier split between Myozyme (infantile-onset) and Lumizyme (late-onset, age 8 and older); Myozyme has since been discontinued.
Nexviazyme (avalglucosidase alfa-ngpt) FDA Approved
Approved in 2021 for late-onset Pompe disease, age 1 and older, and designed for improved cellular uptake compared to earlier ERTs. In 2026, Sanofi reported positive phase 3 results in infantile-onset Pompe disease and is preparing to seek an expanded indication.
In Clinical Trials
Several companies are studying new approaches to treating Pompe disease. These therapies are investigational only, meaning they have not been approved by the FDA and are available only through clinical trial participation.
Gene Therapy
One-time treatments that use a viral vectorA delivery system, often based on a modified virus, used to carry genetic material into cells. to deliver a working copy of the GAA geneThe gene responsible for making the GAA enzyme., with the aim of reducing or eliminating the need for ongoing infusionsA method of delivering medication through an IV..
AskBio, a Bayer Company
AB-1009Phase 1/2
Part of the PROGRESS-GT trial, currently enrolling adults with late-onset Pompe diseaseA form of Pompe disease that begins after infancy and usually progresses more slowly..
Astellas gene therapies
AT845 (zocaglusagene nuzaparvovec)Phase 1/2
Part of the FORTIS trial. Long-term safety and efficacy data were reported in 2026.
Next-Generation Enzyme Replacement Therapy
A newer form of ERT engineered to reach tissue that standard ERT does not effectively treat.
Denali Therapeutics
Designed to cross the blood-brain barrier and deliver the GAA enzyme to both muscle and brain tissue. An active phase 1 study began dosing patients in 2026.
Substrate Reduction Therapy
An oral approach designed to reduce glycogen buildupThe buildup of glycogen inside cells and tissues when it is not broken down properly. at its source, rather than replacing the missing enzyme.
Shionogi
(originally developed by Maze Therapeutics)
Part of the global Esprit trial, enrolling adults with late-onset Pompe disease as of March 2026.
Aro Biotherapeutics
ABX1100Phase 1B
An siRNA-based therapy. Phase 1b enrollment completed in September 2025; results are expected to inform future trial phases.
Find a Clinical Trial
Patients and families interested in participating in Pompe disease research can search ClinicalTrials.gov for current studies, including eligibility requirements and enrolling locations.
Last reviewed: September 2026
Acid Maltase Deficiency Association
For the AMDA videos: All Rights reserved. No part of the AMDA’s videos may be reproduced or transmitted in any form or by any means, electronic or mechanical, without the written permission of the copyright holder.
If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:
info@amda-pompe.org
THE AMDA
PO Box 700248
San Antonio, Texas 78270 USA
Last reviewed: September 2026