Pompe Disease Market

Emerging therapies for Pompe Disease, including MYOZYME (alglucosidase alfa), LUMIZYME, AAV2/8-LSPhGAA, Avalglucosidase alfa, and others, are anticipated to drive growth in the Pompe Disease market in the coming years.

DelveInsight has published a comprehensive report titled “Pompe Disease – Market Insights, Epidemiology, and Market Forecast-2034”, offering detailed insights into Pompe Disease, its historical and projected epidemiology, and market trends across the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan.

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Some of the key facts of the Pompe Disease Market Report:

• Pompe disease, also known as glycogen storage disease type II, is a rare inherited disorder caused by a deficiency of the enzyme acid alpha-glucosidase, which is essential for breaking down glycogen within lysosomes. The absence of this enzyme leads to glycogen accumulation in muscles, resulting in progressive muscle damage. In 2023, roughly 8,600 cases were reported in the U.S., with adults representing 98% of these cases. Infantile-onset Pompe disease is particularly severe, often causing early death due to muscle weakness and respiratory complications, placing significant emotional strain on families.

• In September 2023, the FDA approved a two-component therapy developed by Amicus Therapeutics for adults with late-onset Pompe disease (LOPD) weighing at least 40 kg who were not responding adequately to existing enzyme replacement therapies. This approval was supported by Phase 3 PROPEL study data, which demonstrated improvements in both respiratory function and walking distance compared to prior treatments.

• Approximately 80% of infantile-onset cases in the U.S. in 2023 were CRIM-positive, meaning some residual enzyme activity remains, influencing disease progression and response to treatment. FDA-approved enzyme replacement therapies for Pompe disease include MYOZYME, LUMIZYME, and POMBILITI. The treatment pipeline remains limited, with a few candidates in clinical trials such as ACTUS-101 (Phase I/II) and Avalglucosidase alfa (Phase III). The rarity of the disease poses challenges for patient recruitment, slowing the development of new therapies.

• According to DelveInsight, about 13,000 Pompe disease cases were prevalent across the seven major markets (7MM) in 2023, with a projected CAGR of XX% through 2034. The EU4 and the UK collectively accounted for roughly 25% of these cases in 2023, while the U.S. reported approximately 8,600 cases, primarily in adults.

• In February 2025, Aro Biotherapeutics announced FDA approval of its Investigational New Drug (IND) application for ABX1100, which is now entering Phase 1 clinical trials for patients with LOPD.

• Key companies developing treatments for Pompe disease include Genzyme, Sanofi, Amicus Therapeutics, Actus Therapeutics, Valerion Therapeutics, Astellas Therapeutics, Roche, Lacerta Therapeutics, and others. Promising therapies in the pipeline include MYOZYME (alglucosidase alfa), LUMIZYME, AAV2/8-LSPhGAA, Avalglucosidase alfa, among others.

Pompe Disease Overview

Pompe disease is a rare inherited metabolic disorder caused by mutations in the GAA gene, leading to a deficiency of the enzyme acid alpha-glucosidase. This enzyme is responsible for breaking down glycogen into glucose within lysosomes. Without sufficient enzyme activity, glycogen accumulates in cells—primarily in muscles—resulting in progressive muscle weakness, respiratory difficulties, and other serious complications. The disorder is classified into two main forms: infantile-onset, which appears within the first few months of life and is often fatal if untreated, and late-onset, which develops later in life and progresses more slowly.

Diagnosis typically involves assessing acid alpha-glucosidase activity via blood or muscle tests, genetic testing to identify GAA mutations, and occasionally muscle biopsies. Early detection is especially critical for infantile-onset cases to enable timely and effective management of the disease.

Pompe Disease Market Outlook

In 2023, the Pompe disease therapy market across the seven major markets (7MM) was valued at approximately USD 18.4 million, with the United States accounting for roughly 70% of this total, far surpassing the EU4 countries (Germany, Spain, Italy, France), the UK, and Japan.

The U.S. represents the largest share of the Pompe disease market among all regions. Within the EU4 and the UK, Germany had the largest market at around USD 94 million, followed by France, while one country reported the smallest market size in 2023.

Asklepios Biopharmaceutical is developing AAV2/8-LSPhGAA, a gene therapy aimed at treating Pompe disease by delivering the functional GAA gene to restore enzyme activity. Alongside Sanofi’s Avalglucosidase alfa, a next-generation enzyme replacement therapy, these treatments have the potential to address unmet needs in Pompe disease management. Although initial data for AAV2/8-LSPhGAA are encouraging, pivotal clinical trials are required to establish its safety and efficacy.

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Pompe Disease Marketed Drugs

• MYOZYME (alglucosidase alfa): Genzyme/ Sanofi

• LUMIZYME (alglucosidase alfa): Genzyme/ Sanofi

Pompe Disease Emerging Drugs

• AAV2/8-LSPhGAA (ACTUS-101): Asklepios Biopharmaceutical

• Avalglucosidase alfa: Sanofi

Scope of the Pompe Disease Market Report

• Study Period: 2020-2034

• Coverage: 7MM [The United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan]

• Key Pompe Disease Companies: Genzyme, Sanofi, Amicus Therapeutics, Actus Therapeutics, Valerion Therapeutics, Astellas Therapeutics, Roche, Lacerta Therapeutics, and others

• Key Pompe Disease Therapies: MYOZYME (alglucosidase alfa), LUMIZYME, AAV2/8-LSPhGAA, Avalglucosidase alfa, and others

• Pompe Disease Therapeutic Assessment: Pompe Disease current marketed and Pompe Disease emerging therapies

• Pompe Disease Market Dynamics: Pompe Disease market drivers and Pompe Disease market barriers

• Competitive Intelligence Analysis: SWOT analysis, PESTLE analysis, Porter’s five forces, BCG Matrix, Market entry strategies

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

To know what’s more in our Pompe Disease report, visit https://www.delveinsight.com/report-store/pompe-disease-market?utm_source=abnewswire&utm_medium=market&utm_campaign=kpr

Key benefits of the Pompe Disease Market Report:

1. Pompe Disease market report covers a descriptive overview and comprehensive insight of the Pompe Disease Epidemiology and Pompe Disease market in the 7MM (the United States, EU5 (Germany, Spain, France, Italy, UK) & Japan).

2. The Pompe Disease market report provides insights into the current and emerging therapies.

3. The Pompe Disease market report provides a global historical and forecasted market covering drug outreach in 7MM.

4. The Pompe Disease market report offers an edge that will help in developing business strategies by understanding trends shaping and driving the Pompe Disease market.

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Table of Contents

1. Report Introduction

2. Executive Summary

3. SWOT analysis

4. Pompe Disease Patient Share (%) Overview at a Glance

5. Pompe Disease Market Overview at a Glance

6. Pompe Disease Disease Background and Overview

7. Pompe Disease Epidemiology and Patient Population

8. Country-Specific Patient Population of Pompe Disease

9. Pompe Disease Current Treatment and Medical Practices

10. Unmet Needs

11. Pompe Disease Emerging Therapies

12. Pompe Disease Market Outlook

13. Country-Wise Pompe Disease Market Analysis (2020–2034)

14. Market Access and Reimbursement of Therapies

15. Market drivers

16. Market barriers

17. Appendix

18. Pompe Disease Report Methodology

19. DelveInsight Capabilities

20. Disclaimer

21. About DelveInsight

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Related Reports:

Pompe Disease Pipeline Insights, DelveInsight

“Pompe Disease Pipeline Insight, 2024” report by DelveInsight outlines comprehensive insights of present clinical development scenarios and growth prospects across the Pompe Disease market. A detailed picture of the Pompe Disease pipeline landscape is provided, which includes the disease overview and Pompe Disease treatment guidelines.

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.

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