Pompe Disease Therapeutics Market – Global Industry Size, Share, Trends, Opportunity, & Forecast, Segmented By Treatment Type (Drugs, Enzyme Replacement Therapy, Physical Therapy, Chaperone-Advanced Replacement Therapy), By Route of Administration (Oral, Parenteral), By End User (Hospitals & Speciality Clinics, Other), By Region, & Competition, 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 1.55 Billion
CAGR (2026-2031)	4.51%
Fastest Growing Segment	Enzyme Replacement Therapy (ERT)
Largest Market	North America
Market Size (2031)	USD 2.02 Billion

Market Overview

The Global Pompe Disease Therapeutics Market will grow from USD 1.55 Billion in 2025 to USD 2.02 Billion by 2031 at a 4.51% CAGR. The Global Pompe Disease Therapeutics Market encompasses pharmacological interventions, primarily Enzyme Replacement Therapies and chaperone treatments, designed to address the deficiency of the acid alpha-glucosidase enzyme characteristic of this rare lysosomal storage disorder. The market is fundamentally driven by the global expansion of mandatory newborn screening programs which have significantly increased early diagnosis rates and necessitated immediate therapeutic intervention for infantile-onset cases. Additionally, favorable regulatory frameworks that grant orphan drug designations provide crucial financial incentives for pharmaceutical companies to accelerate clinical development and commercialization efforts.

Despite these advancements, the market faces a substantial impediment regarding the exorbitant costs associated with lifelong biologic treatments which can limit patient access and strain healthcare reimbursement systems globally. This economic burden is compounded by the complexity of developing next-generation therapies for such a limited patient population. According to the Muscular Dystrophy Association, in 2024, the organization committed nearly 36 million dollars to support over 150 research and clinical projects, highlighting the critical reliance on sustained funding to overcome these developmental hurdles and expand the therapeutic pipeline for neuromuscular conditions.

Key Market Drivers

Advancements in Second-Generation Enzyme Replacement Therapies are fundamentally reshaping the Global Pompe Disease Therapeutics Market by addressing the efficacy limitations and immunogenicity challenges associated with first-generation biologics. These novel therapies are engineered to enhance cellular uptake and improve glycogen clearance in muscle tissues, thereby driving rapid adoption among both treatment-naïve patients and those switching from legacy standards of care. This commercial shift toward advanced biologics is evidenced by the strong performance of market leaders. According to Sanofi, in October 2024, third-quarter sales of its second-generation therapy Nexviazyme increased by 53.6% year-over-year to reach €163 million, reflecting a significant migration of the patient base to improved therapeutic options. Furthermore, the market is expanding with the entry of new competitors offering differentiated mechanisms of action. Highlighting this broader market growth, Amicus Therapeutics reported in November 2024 that the global revenue for its newly launched dual-component therapy, Pombiliti and Opfolda, reached $21.1 million in the third quarter, underscoring the robust demand for next-generation treatment modalities.

Expansion of Mandatory Newborn Screening Programs serves as a critical driver for market volume by ensuring presymptomatic diagnosis and the immediate initiation of lifelong therapy. Because infantile-onset Pompe disease progresses rapidly, the inclusion of this condition in public health screening panels is essential for capturing patients within the narrow therapeutic window required for survival, thus directly expanding the addressable market. This regulatory momentum continues to gain traction at the regional level; for instance, according to the Alabama Department of Public Health, in July 2024, the state officially implemented the screening of newborns for Pompe disease, ensuring that affected infants are identified and referred for treatment shortly after birth. Such initiatives not only improve clinical prognoses but also create a sustainable and growing pipeline of patients requiring chronic management, thereby securing long-term demand for therapeutic interventions.

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Key Market Challenges

The primary impediment hampering the growth of the Global Pompe Disease Therapeutics Market is the prohibitive cost structure associated with both the commercialization of lifelong biologic treatments and the complexity of the research and development pipeline. This financial burden creates a substantial barrier to market entry and expansion, as healthcare reimbursement systems globally increasingly scrutinize the high price tags of orphan drugs, leading to delayed market access and restricted patient coverage. The exorbitant expense of Enzyme Replacement Therapies (ERTs) and chaperone treatments strains payer budgets, forcing strict eligibility criteria that limit the addressable patient population and directly reduce the potential revenue uptake for therapeutic manufacturers.

Furthermore, the market's progression is heavily reliant on sustained external funding to navigate the high-risk developmental phases of next-generation therapies. This dependence on continuous capital infusion exposes the sector to volatility, where fluctuations in non-profit and industrial investment can stall critical research. For instance, according to the Muscular Dystrophy Association, in December 2025, the organization allocated more than 2.7 million dollars to support new research grants targeting neuromuscular disease breakthroughs. While such funding is vital, the necessity for constant financial support from associations to de-risk clinical advancements highlights the fragility of the development ecosystem, hampering the speed at which new, more effective Pompe disease therapeutics can be brought to the global market.

Key Market Trends

The Investigation of Substrate Reduction Therapeutic Approaches is emerging as a pivotal trend, shifting the treatment paradigm from solely clearing accumulated glycogen to preventing its synthesis. Unlike standard enzyme replacement therapies (ERTs) that rely on the degradation of existing lysosomal glycogen, substrate reduction therapies (SRTs) utilize small interfering RNA (siRNA) or small molecules to inhibit glycogen synthase 1 (GYS1), thereby reducing the production of glycogen in muscle tissue. This mechanism offers a complementary strategy to manage the disease's metabolic burden, particularly in tissues where ERT uptake is inefficient. Validating this approach, according to Pompe Disease News, September 2025, in the article 'Enrollment complete in Phase 1b trial of ABX1100 for LOPD', Aro Biotherapeutics reported that in a preceding study, its investigational SRT, ABX1100, reduced GYS1 mRNA levels by approximately 70% in muscle samples following two infusions.

Concurrently, the market is witnessing a defined Focus on CNS-Targeted Drug Delivery Systems to address the neurological manifestations of Pompe disease that conventional biologics fail to treat due to the blood-brain barrier (BBB). As infantile-onset patients survive longer with chronic ERT, central nervous system involvement has become a critical unmet need, driving the development of fusion proteins and antibody-oligonucleotide conjugates engineered to actively cross the BBB. Companies are leveraging proprietary transport platforms to ensure therapeutic enzymes reach neuronal lysosomes, which is essential for preventing cognitive decline and neurological motor dysfunction. Highlighting the progress in this domain, according to JCR Pharmaceuticals, February 2025, in the press release 'Research Presentations at WORLDSymposium™ 2025 Showcase Research', the company unveiled two new datasets demonstrating the capacity of its proprietary J-Brain Cargo technology to successfully deliver therapeutic enzymes across the blood-brain barrier for lysosomal storage disorders.

Segmental Insights

The Enzyme Replacement Therapy segment represents the fastest growing category in the global Pompe disease therapeutics market. This expansion is driven by its designation as the primary standard of care, as it directly addresses the essential enzyme deficiency causing the disorder. Approvals from regulatory bodies such as the U.S. FDA and the European Medicines Agency have reinforced clinical confidence, facilitating broader commercial availability for eligible patients. Furthermore, the ability of these therapies to manage disease progression effectively encourages healthcare providers to prioritize their prescription, ensuring sustained demand within the treatment landscape.

Regional Insights

North America maintains the leading position in the global Pompe disease therapeutics market due to a well-established healthcare infrastructure and the widespread adoption of newborn screening programs. This dominance is supported by favorable reimbursement policies that facilitate patient access to essential treatments. Furthermore, the United States Food and Drug Administration actively encourages market progression through the approval of novel therapies and orphan drug designations. The presence of major pharmaceutical companies investing heavily in research and clinical trials also contributes significantly to the region's sustained market superiority.

Recent Developments

• In January 2025, Aro Biotherapeutics announced the dosing of the first patient in a Phase 1b clinical trial evaluating its novel RNA-based candidate for late-onset Pompe disease. The investigational drug, ABX1100, utilizes a proprietary targeted delivery platform to transport small interfering RNA directly to muscle tissues, where it aims to inhibit glycogen synthase 1 and reduce glycogen buildup. This open-label study was designed to assess the safety, tolerability, and bioactivity of the therapy in adult patients who are currently receiving stable enzyme replacement therapy. This clinical advancement marked a significant step in the development of substrate reduction therapies that target the underlying pathology of the disease.
• In July 2024, Amicus Therapeutics received regulatory approval from Swissmedic for its two-component therapy designated for the treatment of adults with late-onset Pompe disease. The authorization permitted the marketing of the company's long-term enzyme replacement therapy used in combination with an oral enzyme stabilizer. This regulatory decision provided a new therapeutic option for patients in Switzerland who were not improving on their current standard of care. The approval represented a continued expansion of the product's global commercial reach, following earlier successful regulatory milestones in the United States, United Kingdom, and European Union for this proprietary combination treatment.
• In May 2024, Shionogi & Co., Ltd. entered into an exclusive worldwide license agreement with Maze Therapeutics to develop and commercialize an investigational oral therapy for Pompe disease. Under the terms of the accord, Shionogi acquired global rights to MZE001, a glycogen synthase 1 inhibitor designed to address the disorder by limiting harmful glycogen accumulation. The transaction involved an upfront payment of $150 million to Maze Therapeutics, along with potential future milestone payments. This strategic collaboration allowed the Japanese pharmaceutical company to expand its rare disease pipeline with a novel substrate reduction therapy following the termination of a prior deal involving another major partner.
• In February 2024, Sanofi presented new clinical data regarding its enzyme replacement therapy for Pompe disease at the 20th Annual WORLDSymposium. The pharmaceutical company shared positive safety and efficacy results from the Phase 3 Baby-COMET trial, which evaluated the treatment in infantile-onset patients and highlighted improvements in specific symptoms such as eyelid drooping. Additionally, the company released long-term follow-up data from the NEO-EXT study, demonstrating the sustained durability of the therapy in late-onset patients over several years. These findings reinforced the clinical profile of the company's product across diverse patient populations, including those switching from other standard treatments.

Key Market Players

• Genzyme Corporation
• Amicus Therapeutics Inc
• Valerion Therapeutics LLC
• Audentes Therapeutics Inc
• Actus Therapeutics Inc
• BioMarin Pharmaceutical Inc
• EpiVax inc
• Oxyrane Co Ltd.
• Sangamo BioSciences Inc
• Avrobio Inc
• Spark Therapeutics Inc

By Treatment Type	By Route of Administration	By End User	By Region
Drugs Enzyme Replacement Therapy Physical Therapy Chaperone-Advanced Replacement Therapy	Oral Parenteral	Hospitals & Speciality Clinics Other	North America Europe Asia Pacific South America Middle East & Africa

Report Scope:

In this report, the Global Pompe Disease Therapeutics Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Pompe Disease Therapeutics Market, By Treatment Type:

• Drugs
• Enzyme Replacement Therapy
• Physical Therapy
• Chaperone-Advanced Replacement Therapy

• Pompe Disease Therapeutics Market, By Route of Administration:

• Oral
• Parenteral

• Pompe Disease Therapeutics Market, By End User:

• Hospitals & Speciality Clinics
• Other

• Pompe Disease Therapeutics Market, By Region:

• North America
• United States
• Canada
• Mexico
• Europe
• France
• United Kingdom
• Italy
• Germany
• Spain
• Asia Pacific
• China
• India
• Japan
• Australia
• South Korea
• South America
• Brazil
• Argentina
• Colombia
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE