Pompe Disease Market Set for Robust Growth Through 2034, Driven by Breakthrough Therapies and Expanding Pipeline | DelveInsight
DelveInsight’s “Pompe Disease Market Insight, Epidemiology And Market Forecast – 2034” report delivers an in-depth understanding of the Pompe disease treatment market, historical and forecasted epidemiology, as well as market trends across the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan. The report comprehensively evaluates the current treatment landscape, emerging therapies, market share of individual treatments, and Pompe disease market forecasts through 2034, providing crucial insights for stakeholders in the Pompe therapeutic area.
According to DelveInsight’s analysis, the United States captured about 70% of the overall market share. The US market significantly outpaced those of the EU4 (Germany, Spain, Italy, France), the United Kingdom, and Japan, underscoring its dominant position in the global landscape. Within Europe, Germany led among the EU4 and the UK, followed by France, while Spain had the smallest market size in 2024. This distribution highlights the strong demand and higher adoption rates of Pompe disease therapies in the US and select European countries, reflecting regional differences in disease awareness, diagnosis, and access to advanced treatments.
Download the Pompe Disease Market report to understand which factors drive the Pompe therapeutic market @ Pompe Disease Market Trends.
The epidemiological analysis reveals that there were approximately 13K prevalent cases of Pompe disease across the 7MM in 2024, with numbers expected to rise by 2034. The EU4 (Germany, Spain, Italy, France) and the UK together accounted for about 25% of these cases. The United States had around 8.6K diagnosed cases in 2024, with a striking 98% occurring in adults. Infantile-onset Pompe disease, though less common, is associated with high mortality in the first months of life due to severe muscle weakness and respiratory complications, causing significant psychological distress for affected families. In 2024, about 80% of infantile-onset Pompe disease cases in the US were CRIM-positive, a phenotype marked by residual enzyme activity that can influence both disease progression and treatment response.
Discover evolving trends in the Pompe Disease patient pool forecasts @ Pompe Disease Epidemiology Analysis.
While there is no definitive cure for Pompe disease, several treatment options are aimed at disease management and enzyme replacement. The current standard of care includes established enzyme replacement therapies such as Sanofi’s MYOZYME (alglucosidase alfa) and LUMIZYME (alglucosidase alfa), which have been cornerstones of treatment for over a decade. A significant milestone occurred with the FDA approval of Sanofi’s NEXVIAZYME (avalglucosidase alfa-ngpt) in 2021 for patients aged one and older with late-onset Pompe disease.
In September 2023, the FDA approved a groundbreaking two-component therapy developed by Amicus Therapeutics, indicated for adults with LOPD who weigh at least 40 kg and are not responding adequately to existing enzyme replacement therapies. This approval was based on data from the Phase III PROPEL study, which demonstrated improvements in respiratory function and walking distance compared to prior treatments.
According to the DelveInsight report, the Pompe disease therapies pipeline is promising, targeting novel treatment approaches. GeneCradle Therapeutics’ GC301, a gene therapy currently in Phase I/II trials, is showing potential for enzyme replacement therapy discontinuation and motor ability improvement. As the world’s first AAV gene therapy for infantile-onset Pompe disease, GC301 completed its first subject dosing in 2022 and has shown consistent stability in safety and efficacy through 52 weeks of follow-up.
Maze Therapeutics’ MZE001, an oral glycogen synthase inhibitor, is progressing through Phase I trials, aiming to reduce glycogen buildup in Pompe disease patients. The therapy has been granted Orphan Drug Designation by the FDA in August 2022.
Furthermore, key players like Asklepios Biopharmaceutical and Sanofi are advancing therapies such as ACTUS-101 (AAV2/8-LSPhGAA) and Avalglucosidase alfa through clinical trials. However, the competitive landscape faced a setback when Roche discontinued its SPK-3006 gene therapy program in 2024 after strategic portfolio prioritization, despite no safety concerns.
Recent developments highlight the dynamic nature of the Pompe disease treatment landscape. In February 2025, Aro Biotherapeutics announced FDA clearance for the Investigational New Drug Application (IND) for ABX1100, a novel therapy currently being investigated in a Phase I study for late-onset Pompe disease patients. ABX1100 is uniquely designed to deliver glycogen synthase 1-specific siRNA directly to muscle tissue, potentially reducing the need for frequent ERT infusions.
Discover recent advancements in the Pompe disease treatment landscape @ Pompe disease Recent Developments.
Looking ahead, the Pompe disease market is expected to witness continued innovation driven by enhanced understanding of disease mechanisms, biomarker development, and personalized medicine approaches. While significant progress has been made with enzyme replacement therapies, challenges remain in addressing complete glycogen clearance, preventing disease progression, and improving treatment accessibility and affordability across diverse patient populations. Emerging therapies focusing on novel mechanisms beyond traditional ERT, including gene therapies, substrate reduction therapies, and targeted muscle delivery systems, hold promise for addressing these unmet needs and further transforming the Pompe disease treatment landscape.
Table of Contents
1. Key Insights
2. Report Introduction
3. Executive Summary of Pompe disease
4. Key Events
5. Pompe disease Epidemiology and Market Forecast Methodology
6. Pompe disease Market Overview at a Glance
7. Pompe disease Background and Overview: Pompe disease
8. Pompe disease Treatment and Management
9. Pompe disease Epidemiology and Patient Population of Pompe disease in the 7MM
10. Pompe disease Patient Journey
11. Pompe disease Marketed Therapies
12. Pompe disease Emerging Therapies
13. Pompe disease: Seven Major Market Analysis
14. Pompe disease Unmet Needs
15. SWOT Analysis
16. KOL Views
17. Market Access and Reimbursement
18. Appendix
19. DelveInsight Capabilities
20. Disclaimer
21. About DelveInsight
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Pompe disease Pipeline Insight
Pompe disease Pipeline Insight provides comprehensive insights about the Pompe disease pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the Pompe disease companies, including Genzyme, Sanofi, Amicus Therapeutics, Actus Therapeutics, Valerion Therapeutics, Astellas Therapeutics, Roche, and Lacerta Therapeutics, among others.
About DelveInsight
DelveInsight is a leading market research and consulting firm specializing in disease-specific insights and therapeutic market analysis. Their reports integrate real-world data, clinical trial findings, and expert interviews to deliver comprehensive industry intelligence.
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