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DelveInsight, a leading market research firm, announces the release of its latest report, “DelveInsight’s Pompe Disease Market Insights, Epidemiology, and Market Forecast 2036.” This comprehensive report provides an in-depth understanding of Pompe Disease, including historical and forecasted epidemiology, market trends, and treatment scenarios across the United States, EU4 (Germany, Spain, Italy, France), the United Kingdom, and Japan.

Key Takeaways from the Pompe Disease Market

• The market size for Pompe Disease in the leading markets is expected to grow significantly by 2036.

• The 7MM Pompe Disease market is projected to increase from approximately USD 800 million in 2022 to nearly USD 3.6 billion by 2036, reflecting substantial growth during the forecast period.

• According to the European Pompe Consortium (EPOC), the prevalence of Pompe Disease in Europe is estimated to be approximately 1 in 283,000, while the global incidence is estimated at 1 in 40,000 live births.

• According to Stevens et al. (2023), newborn screening conducted in California demonstrated a birth prevalence of approximately 1 in 25,200.

• According to Metabolic Support UK, Pompe Disease affects approximately 1 in 40,000 people, with nearly 200 diagnosed patients in the United Kingdom.

• DelveInsight estimates that the United States accounted for approximately 66% of the total diagnosed prevalent cases of Pompe Disease across the 7MM in 2025, while Spain reported the lowest number of diagnosed cases.

• Approximately 70% of Pompe Disease cases in the United States comprise Late-onset Pompe Disease (LOPD), while nearly 30% are Infantile-onset Pompe Disease (IOPD).

• Currently approved Pompe Disease therapies include POMBILITI + OPFOLDA (Amicus Therapeutics), NEXVIAZYME (Sanofi), and LUMIZYME/MYOZYME (Sanofi).

• Leading Pompe Disease companies, including Shionogi, Maze Therapeutics, Astellas Pharma, Bayer AG, Asklepios BioPharmaceutical, Aro Biotherapeutics, Regeneron Pharmaceuticals, Intellia Therapeutics, and others are actively developing innovative therapies expected to transform the Pompe Disease treatment landscape.

• Promising Pompe Disease pipeline therapies include MZE001 (S-606001), AT845, ACTUS-101, ABX1100, AB-1009, GC301, and GAA CRISPR + AAV gene therapy, among others.

Keen to know more about the market? Request our sample page athttps://www.delveinsight.com/sample-request/pompe-disease-market

Key Factors Driving the Pompe Disease Market

Increasing Adoption of Newborn Screening Programs

The growing implementation of newborn screening programs has significantly improved early diagnosis of Pompe Disease, particularly Infantile-onset Pompe Disease (IOPD), enabling earlier therapeutic intervention before irreversible muscle damage occurs. Early diagnosis is expected to improve clinical outcomes while supporting market growth.

Expanding Utilization of Next-generation Enzyme Replacement Therapies

Enzyme replacement therapy remains the cornerstone of Pompe Disease treatment. The availability of next-generation therapies such as NEXVIAZYME and POMBILITI + OPFOLDA, designed to improve enzyme delivery and therapeutic response, is driving greater physician adoption and improving patient outcomes across both IOPD and LOPD populations.

Growing Pipeline of Gene Therapy and Disease-modifying Treatments

The Pompe Disease pipeline is rapidly evolving with multiple companies advancing gene replacement therapies and glycogen synthase inhibitors. Investigational therapies including AT845, ACTUS-101, MZE001, and AB-1009 aim to address limitations of existing enzyme replacement therapies and provide long-term disease modification, creating significant future market opportunities.

Pompe Disease Competitive Landscape

The Pompe Disease treatment landscape has evolved considerably with the availability of multiple enzyme replacement therapies and the emergence of innovative disease-modifying approaches. LUMIZYME/MYOZYME (alglucosidase alfa) established the first standard of care for Pompe Disease, while NEXVIAZYME (avalglucosidase alfa-ngpt) was developed as a second-generation enzyme replacement therapy with improved uptake into target tissues. More recently, POMBILITI (cipaglucosidase alfa) + OPFOLDA (miglustat) introduced a two-component treatment strategy designed to improve enzyme stability and therapeutic efficacy for adults with Late-onset Pompe Disease.

The pipeline continues to expand with several promising therapies under clinical development. MZE001 (S-606001) is an oral glycogen synthase inhibitor intended to reduce glycogen accumulation, while AT845, ACTUS-101, ABX1100, and AB-1009 are advancing gene therapy approaches aimed at restoring functional acid alpha-glucosidase (GAA) activity. These innovative candidates have the potential to overcome limitations associated with lifelong enzyme replacement therapy and are expected to significantly reshape the Pompe Disease treatment landscape during the forecast period.

Discover more about therapies set to grab major Pompe Disease market share @ Pompe Disease Treatment Landscape

Recent Developments in the Pompe Disease Market

• In January 2026, AskBio, a subsidiary of Bayer AG, announced that the US FDA accepted the Investigational New Drug (IND) application for AB-1009 for the treatment of Late-onset Pompe Disease (LOPD). The Phase I/II study is expected to enroll its first patient in early 2026.

• According to Astellas Pharma’s FY2025 Integrated Report, the company expects the Proof-of-Concept (PoC) readout for AT845 from the FORTIS clinical trial during the second half of FY2025.

• In July 2024, Roche discontinued the development of its investigational gene therapy SPK-3006, which had been evaluated in the Phase I/II RESOLUTE trial for patients with Late-onset Pompe Disease.

• In February 2024, Amicus Therapeutics received the 2024 New Treatment Award at the 20th Annual WORLDSymposium for POMBILITI (cipaglucosidase alfa) + OPFOLDA (miglustat), recognizing its contribution to the treatment of adults with Late-onset Pompe Disease.

• In February 2024, Sanofi reported new data demonstrating that NEXVIAZYME (avalglucosidase alfa-ngpt) significantly improved ptosis (drooping eyelid) in pediatric patients with Infantile-onset Pompe Disease following nearly three years of treatment.

What is Pompe Disease?

Pompe Disease, also known as Glycogen Storage Disease Type II (GSD II), is a rare, inherited lysosomal storage disorder caused by mutations in the acid alpha-glucosidase (GAA) gene. Deficiency of the GAA enzyme results in excessive accumulation of glycogen within lysosomes, primarily affecting skeletal, cardiac, and respiratory muscles, leading to progressive muscle weakness and organ dysfunction.

Pompe Disease is broadly classified into Infantile-onset Pompe Disease (IOPD) and Late-onset Pompe Disease (LOPD). IOPD is the most severe form, characterized by cardiomyopathy, profound muscle weakness, and respiratory failure during infancy, whereas LOPD presents later in childhood or adulthood with progressive skeletal muscle weakness and respiratory impairment. Early diagnosis through newborn screening, enzyme activity testing, and molecular genetic analysis enables timely treatment initiation and improves long-term clinical outcomes. Although enzyme replacement therapy remains the current standard of care, gene therapy and other disease-modifying approaches are being actively investigated to further improve patient outcomes.

Pompe Disease Epidemiology Segmentation

The Pompe Disease epidemiology section provides insights into the historical and current Pompe Disease patient pool and forecasted trends across the seven major markets. The Pompe Disease market report provides epidemiological analysis for the study period 2022–2036, segmented into:

• Total Diagnosed Prevalent Cases of Pompe Disease

• Total Live Birth Cases of Pompe Disease

• Total Adult Cases of Pompe Disease

• Onset-specific Diagnosed Prevalent Cases of Pompe Disease (IOPD and LOPD)

• Clinical Phenotype-specific Cases of Infantile-onset Pompe Disease (CRIM-positive and CRIM-negative)

• Total Treated Cases of Pompe Disease

Scope of the Pompe Disease Market Report

• Therapeutic Assessment: Current marketed and emerging therapies for Pompe Disease

• Pompe Disease Market Dynamics: Key market forecast assumptions, pricing trends, analogue assessment, therapy uptake, and market outlook

• Key Companies: Sanofi, Amicus Therapeutics, Shionogi, Maze Therapeutics, Astellas Pharma, Bayer AG, Asklepios BioPharmaceutical, Aro Biotherapeutics, GeneCradle, Regeneron Pharmaceuticals, Intellia Therapeutics, and others

• Key Therapies: POMBILITI + OPFOLDA, NEXVIAZYME, LUMIZYME/MYOZYME, MZE001 (S-606001), AT845, ACTUS-101, GC301, ABX1100, AB-1009, GAA CRISPR + AAV gene therapy, and others

• Competitive Intelligence Analysis: SWOT analysis and Market Entry Strategies

• Unmet Needs, KOL’s Views, Analyst’s Views, Pompe Disease Market Access and Reimbursement

To know more about Pompe Disease companies working in the treatment market, visit @ Pompe Disease Clinical Trials and Therapeutic Assessment

Table of Contents

• Pompe Disease Market Report Introduction

• Executive Summary for Pompe Disease

• SWOT Analysis of Pompe Disease

• Pompe Disease Patient Share (%) Overview at a Glance

• Pompe Disease Market Overview at a Glance

• Pompe Disease Background and Overview

• Pompe Disease Epidemiology and Patient Population

• Country-Specific Patient Population of Pompe Disease

• Pompe Disease Current Treatment and Medical Practices

• Pompe Disease Unmet Needs

• Pompe Disease Emerging Therapies

• Pompe Disease Market Outlook

• Country-Wise Pompe Disease Market Analysis (2022–2036)

• Pompe Disease Market Access and Reimbursement of Therapies

• Pompe Disease Market Drivers

• Pompe Disease Market Barriers

• Pompe Disease Appendix

• Pompe Disease Report Methodology

• DelveInsight Capabilities

• Disclaimer

• About DelveInsight

About DelveInsight

DelveInsight is a leading Business Consultant and Market Research firm focused exclusively on life sciences. It supports pharma companies by providing comprehensive end-to-end solutions to improve their performance. Get hassle-free access to all the healthcare and pharma market research reports through our subscription-based platform PharmDelve.

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