Pompe Disease Market

Market Overview:

The 7 major pompe disease markets reached a value of USD 1,336.1 Million in 2024. Looking forward, IMARC Group expects the 7MM to reach USD 2,240.4 Million by 2035, exhibiting a growth rate (CAGR) of 4.81% during 2025-2035.

The pompe disease market has been comprehensively analyzed in IMARC's new report titled "Pompe Disease Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035". Pompe disease, also known as glycogen storage disease type II, is a rare, autosomal recessive metabolic disorder caused by mutations in the GAA gene, which encodes the enzyme acid alpha-glucosidase. This enzyme is responsible for breaking down glycogen within lysosomes. The deficiency of acid alpha-glucosidase leads to excess glycogen accumulation in muscle tissues, primarily affecting skeletal, cardiac, and respiratory muscles. The disorder manifests in different forms based on the age of onset and severity: infantile-onset Pompe disease (IOPD), late-onset Pompe disease (LOPD), and juvenile-onset Pompe disease. IOPD, the most severe form, presents within the first few months of life with cardiomyopathy, hypotonia, and respiratory failure, often leading to mortality if untreated. LOPD develops later in life, causing progressive muscle weakness, fatigue, and respiratory complications that severely impact mobility and quality of life. Diagnosing Pompe disease involves a combination of enzyme activity assays, genetic testing, and muscle biopsies, while newborn screening programs are increasingly being implemented in several countries to enable early detection and timely intervention.

The rising diagnosis and awareness levels of Pompe disease are major growth drivers for the market, in addition to the growing application of enzyme replacement therapy (ERT) as the main treatment option. Myozyme and Lumizyme (alglucosidase alfa) currently dominate the market, which are ERTs used to replace the deficient acid alpha-glucosidase enzyme, thus lowering glycogen accumulation. But ERT mandates lifetime intravenous infusions and has limitations with immune responses, variability in response, and reactions on infusion. In an effort to overcome the drawbacks, therapies are under way, such as cipaglucosidase alfa, an engineered enzyme of higher specificity and stability, and chaperone therapy, designed to augment the action of an enzyme by rescuing misfolded proteins. Gene therapy entrants are under investigation as potentially single-dosing curative entities, which promises to transform management of Pompe disease. In addition, strategic collaborations among pharmaceutical companies and biotech organizations are speeding up research and development, which results in a rich treatment pipeline. With ongoing innovations in diagnostics, newborn screening programs, and new therapies, the Pompe disease market is likely to experience impressive growth during the forecast period.

IMARC Group's new report provides an exhaustive analysis of the pompe disease market in the United States, EU4 (Germany, Spain, Italy, and France), United Kingdom, and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc. The report also provides the current and future patient pool across the seven major markets. According to the report, the United States has the largest patient pool for pompe disease and also represents the largest market for its treatment. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario, unmet medical needs, etc., have also been provided in the report. This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the pompe disease market in any manner.

Recent Developments:

• In June 2023, the European Commission approved Pombiliti (cipaglucosidase alfa) + Opfolda (miglustat) for adults with Pompe disease who are not responding adequately to existing ERTs. In September 2023, the FDA granted approval for the same therapy in the U.S. Pombiliti provides a recombinant human acid alpha-glucosidase enzyme for enhanced cellular uptake, while Opfolda acts as an enzyme stabilizer, maintaining enzyme functionality in the bloodstream. Clinical trials showed improvements in walking distance and respiratory function.
• In August 2021, the U.S. Food and Drug Administration (FDA) approved Nexviazyme (avalglucosidase alfa-ngpt), an enzyme replacement therapy (ERT) for patients aged one year and older with Pompe disease. The treatment enhances glycogen breakdown in muscle cells, improving respiratory function and increasing walking distance.

Key Highlights:

• The overall incidence of Pompe disease is quite variable in different parts of the globe with estimates as high as 1 in 40,000 and as low as 1 in 300,000 live births. The average incidence is highest in the African American population (1 in 14,000); while for some European populations the rates are lower (1 in 600,000).
• Almost all untreated infants with this condition die from cardiorespiratory failure at some time within their first year, which is the very high mortality rate of this condition: infantile-onset Pompe disease (IOPD). Slowly progressing as this form of disease does, it has been recognized that respiratory failure remains the leading cause of death due to late-onset Pompe disease (LOPD).
• IOPD occurs in the first few months of life with very severe muscle weakness, respiratory insufficiency, and cardiomyopathy. The onset of LOPD is variable, characterized by progressive muscle weakness, respiratory dysfunction, and reduced mobility over time.
• The mainstay treatment from ERT includes Myozyme, Lumizyme, Nexviazyme, and Pombiliti. Emerging therapies under clinical investigation include gene therapy.
• Despite the treatments available, disease progression continues in many patients, especially in skeletal and respiratory muscles. The major obstacles are high costs of treatment and limited newborn screening programs.

Drugs:

Nexviazyme (avalglucosidase alfa-ngpt) is an enzyme replacement therapy for patients aged one year and older with late-onset Pompe disease. It targets the mannose-6-phosphate receptor to enhance glycogen clearance in muscle cells, improving respiratory function and mobility.

Myozyme (alglucosidase alfa) is an enzyme replacement therapy for pompe disease, one of the rare genetic conditions characterized by a deficiency of acid alpha-glucosidase. Infusion bi-weekly helps to reduce glycogen accumulation in muscles, resulting in improved motor and respiratory functions in such patients. It would deliver the therapy by intravenous infusion of alglucosidase alfa.

ABX1100 is a putative therapy for late-onset Pompe disease based on directly inhibiting glycogen synthesis through the delivery of GYS1-specific siRNA into muscle tissues. It achieved a well-tolerated Phase 1 study, demonstrating a significant reduction in levels of GYS1 mRNA and protein.

Time Period of the Study

• Base Year: 2024
• Historical Period: 2019-2024
• Market Forecast: 2025-2035

Countries Covered

• United States
• Germany
• France
• United Kingdom
• Italy
• Spain
• Japan

Analysis Covered Across Each Country

• Historical, current, and future epidemiology scenario
• Historical, current, and future performance of the pompe disease market
• Historical, current, and future performance of various therapeutic categories in the market
• Sales of various drugs across the pompe disease market
• Reimbursement scenario in the market
• In-market and pipeline drugs

Competitive Landscape:

This report also provides a detailed analysis of the current pompe disease marketed drugs and late-stage pipeline drugs.

In-Market Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

Late-Stage Pipeline Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

*Kindly note that the drugs in the above table only represent a partial list of marketed/pipeline drugs, and the complete list has been provided in the report.

Key Questions Answered in this Report:

Market Insights

• How has the pompe disease market performed so far and how will it perform in the coming years?
• What are the markets shares of various therapeutic segments in 2024 and how are they expected to perform till 2035?
• What was the country-wise size of the pompe disease market across the seven major markets in 2024 and what will it look like in 2035?
• What is the growth rate of the pompe disease market across the seven major markets and what will be the expected growth over the next ten years?
• What are the key unmet needs in the market?

Epidemiology Insights

• What is the number of prevalent cases (​2019-2035) of pompe disease across the seven major markets?
• What is the number of prevalent cases (​2019-2035​) of pompe disease by age across the seven major markets?
• What is the number of prevalent cases (2019-2035) of pompe disease by gender across the seven major markets?
• How many patients are diagnosed (​2019-2035​) with pompe disease across the seven major markets?
• What is the size of the pompe disease patient pool (2019-2024) across the seven major markets?
• What would be the forecasted patient pool (2025-2033) across the seven major markets?
• What are the key factors driving the epidemiological trend of pompe disease?
• What will be the growth rate of patients across the seven major markets?

Pompe Disease: Current Treatment Scenario, Marketed Drugs and Emerging Therapies

• What are the current marketed drugs and what are their market performance?
• What are the key pipeline drugs and how are they expected to perform in the coming years?
• How safe are the current marketed drugs and what are their efficacies?
• How safe are the late-stage pipeline drugs and what are their efficacies?
• What are the current treatment guidelines for pompe disease drugs across the seven major markets?
• Who are the key companies in the market and what are their market shares?
• What are the key mergers and acquisitions, licensing activities, collaborations, etc. related to the pompe disease market?
• What are the key regulatory events related to the pompe disease market?
• What is the structure of clinical trial landscape by status related to the pompe disease market?
• What is the structure of clinical trial landscape by phase related to the pompe disease market?
• What is the structure of clinical trial landscape by route of administration related to the pompe disease market?