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Pompe Disease Treatment Market Size – By Treatment Type (ERT, Supportive Care), By Disease Type (Infantile, Juvenile), By Therapy Type (Monotherapy, Combination Therapy), By End-user (Hospitals, Infusion Care) & Forecast, 2024 ­ 2032

  • Report ID: GMI8315
  • Published Date: Feb 2024
  • Report Format: PDF

Pompe Disease Treatment Market Size

Pompe Disease Treatment Market size was valued at USD 1.6 billion in 2023 and is expected to grow at a CAGR of 4.4% between 2024 and 2032. Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder caused by mutations in the GAA gene. It results in deficient activity of the enzyme GAA, leading to the accumulation of glycogen in cells, particularly in muscles, causing progressive weakness and other symptoms.

Pompe Disease Treatment Market

The market growth is due to the escalated burden of Pompe disease, leading to increased demand for effective treatments. This trend has fueled research activities, including the development of innovative therapeutic approaches like enzyme replacement therapy (ERT) and ongoing studies on alternative therapies. Pompe disease results from acid alpha-glucosidase (GAA) deficiency, with incidence rates varying by ethnicity and region. The highest prevalence occurred in East Asian populations (1 in 12,125). The growing global burden has driven the need for enhanced diagnosis and care access for the patients with rare diseases treatment, thereby bolstering the market growth.

Pompe Disease Treatment Market Trends

  • The rising occurrence of Pompe disease, classified as a rare disorder, and the limited treatment options available, has prompted pharmaceutical and biotechnology companies to intensively focus on research. Their aim is to glean a deeper understanding of disease mechanisms and to innovate treatment avenues, including ERT, gene therapy, autophagy suppression, and combination therapy among others.
  • The new approach of two-component therapy has gained popularity in the market, offering a promising opportunity for potential treatment options. Thus, the rising R&D initiatives concentrated on novel treatment approaches for rare diseases are anticipated to drive market growth in the coming years.

However, the treatment for Pompe disease often incurs substantial out-of-pocket expenses, thereby hindering patient access in low- and middle-income economies.

Pompe Disease Treatment Market Analysis

Pompe Disease Treatment Market, By Treatment Type, 2021 - 2032 (USD Billion)

Based on the treatment type, the market is categorized in ERT and supportive care. The ERT segment is poised to reach USD 1.6 billion by 2032.

  • ERT has emerged as the primary treatment modality dominating the Pompe disease market due to its ability to address the underlying enzyme deficiency characteristic of the condition. ERT supplements GAA, effectively reduce glycogen accumulation, enhancing patient outcomes. This approach has demonstrated efficacy in improving patient care, making it the cornerstone of Pompe disease management and the leading therapeutic choice in the market.
  • Additionally, increasing ERT approvals, driven by its efficacy in treating Pompe disease, have led to market traction, resulting in ERT dominance and market expansion. For instance, in August 2021, the U.S. FDA granted approval for Nexviazyme to treat individuals aged one year and above afflicted with late onset Pompe disease. This is aimed to propel the Pompe disease treatment line, expanding the market through improved accessibility and efficacy of treatment options.


Pompe Disease Treatment Market, By Disease Type (2023)

Based on disease type, the pompe disease treatment market is classified into infantile and juvenile. The juvenile disease type segment held over 70.1% of the market share in 2023.

  • The surge in the prevalence of late onset Pompe disease (LOPD) is estimated at 1 in 57,000. The severity of symptoms has highlighted the necessity for early intervention, driving the demand for Pompe disease treatment.
  • Additionally, advancements in therapeutic approaches tailored to cater to the unique challenges posed by juvenile Pompe disease have further solidified its prominence in driving treatment strategies and market dynamics.

Based on therapy type, the pompe disease treatment market is classified into monotherapy and combination therapy. The monotherapy segment is anticipated to expand at over of 4.4% CAGR through 2032.

  • Monotherapy has established dominance in the Pompe disease treatment industry, largely due to its simplicity and effectiveness in managing the condition. This approach involves using a single therapeutic agent, which simplifies treatment regimens for patients and healthcare providers while effectively addressing the underlying disease pathology.
  • Further, in 2022, combination therapy was approved for Pompe disease treatment, signaling progress in the field of rare diseases.

Based on end-user, the Pompe disease treatment market is classified into hospitals, infusion centers, and other end-users. Hospitals segment is expected to maintain dominance throughout the forthcoming years.

  • Hospitals leverage specialized infrastructure and expertise, alongside collaborative initiatives, and favorable treatment policies. They serve as primary centers for diagnosis, treatment, and management of Pompe disease, offering comprehensive care and access to various therapeutic modalities.
  • Additionally, hospitals frequently collaborate with research institutions and pharmaceutical companies, enabling clinical trials and driving innovation in Pompe disease treatment protocols. This collaborative approach enhances patient care by expanding treatment options and ensuring access to cutting-edge therapies, ultimately improving outcomes for individuals affected by Pompe disease. 


North America Pompe Disease Treatment  Market, 2020 – 2032 (USD Million)

North America Pompe disease treatment market accounted for 37.8% of the revenue share in 2023.

  • The North American market is driven by various factors including the proliferation of novel drug launches, a robust presence of pharmaceutical companies, increased R&D investments, and rising patient preference for advanced therapies, product innovations, and technological advancements. For instance, a study published in the International Journal of Neonatal Screening in March 2021 revealed that California screened over half a million infants, indicating a birth frequency of 1 in every 25,200 in 2021.
  • Similarly, research published in November 2021 suggests a 1% prevalence of late onset Pompe disease (LOPD) in the U.S. and Canada. These factors are forecast to fuel the North American market growth in the coming years.

Pompe Disease Treatment Market Share

The pompe disease treatment industry is highly competitive, featuring pharmaceutical and biotechnology firms along with research institutions. The companies are actively focusing on innovative therapies and improve patient care by developing and commercializing novel treatment approaches for Pompe disease patients.

Pompe Disease Treatment Market Companies

Prominent players operating in the pompe disease treatment industry are as mentioned below:

  • Abeona Therapeutics Inc.
  • Amicus Therapeutics, Inc.
  • Aro Biotherapeutics Company
  • Audentes Therapeutics (Astellas Pharma Inc.)
  • Bayer AG
  • F. Hoffmann-La Roche Ltd.
  • Genethon
  • Maze Therapeutics
  • M6P Therapeutics
  • Oxyrane
  • Sanofi
  • Valerion Therapeutics

Pompe Disease Treatment Industry News

  • In August 2023, Amicus Therapeutics obtained marketing authorization from the Medicines and Healthcare products Regulatory Agency (MHRA) for Pombiliti+ Opfolda, targeting adults with late onset Pompe disease. Furthermore, the National Institute for Health and Care Excellence (NICE) endorsed reimbursement of Pombiliti + Opfolda within England and Wales National Health Service (NHS). These strategic collaborations are aimed at expediting patient access to innovative therapies, addressing unmet medical needs.
  • In June 2021, Sanofi received U.S. FDA approval for its biologics license application (BLA) for avalglucosidase alfa as a long-term enzyme replacement therapy for Pompe disease patients. Avalglucosidase alfa holds FDA breakthrough therapy and fast track designations. The FDA's acceptance of avalglucosidase alfa's BLA indicated a significant step forward in Pompe disease treatment, thereby strengthening its product pipeline.

The pompe disease treatment market research report includes an in-depth coverage of the industry with estimates & forecast in terms of revenue in USD Million from 2018 – 2032 for the following segments:

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Market, By Treatment Type

  • Enzyme replacement therapy (ERT)
  • Supportive care

Market, By Disease Type

  • Infantile
  • Juvenile

Market, By Therapy Type

  • Monotherapy
  • Combination therapy

Market, By End-user

  • Hospitals
  • Infusion centers
  • Other end-users

The above information has been provided for the following regions and countries:

  • North America
    • U.S.
    • Canada
  • Europe
    • Germany
    • UK
    • France
    • Italy
    • Spain
    • Rest of Europe
  • Asia Pacific
    • Japan
    • China
    • India
    • Australia
    • Rest of Asia Pacific
  • Latin America
    • Brazil
    • Mexico
    • Rest of Latin America
  • Middle East and Africa
    • South Africa
    • Saudi Arabia
    • Rest of Middle East and Africa


Authors: Mariam Faizullabhoy, Gauri Wani

Frequently Asked Questions (FAQ) :

The market size of pompe disease treatment reached USD 1.6 billion in 2023 and is set to cross USD 2.3 billion by 2032, due to the escalated burden of Pompe disease, leading to increased demand for effective treatments.

Monotherapy segment is expected to record a CAGR of 4.4% over 2024 and 2032, due to its simplicity and effectiveness in managing Pompe disease.

North America market accounted for a revenue share of 37.8% in 2023, driven by the proliferation of novel drug launches, a robust presence of pharmaceutical companies in the region, and increased R&D investments.

Abeona Therapeutics Inc., Amicus Therapeutics, Inc., Aro Biotherapeutics Company, Audentes Therapeutics (Astellas Pharma Inc.), Bayer AG, F. Hoffmann-La Roche Ltd., Genethon, Maze Therapeutics, M6P Therapeutics, Oxyrane, Sanofiare some of the major industry contenders.

Pompe Disease Treatment Market Scope

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Premium Report Details

  • Base Year: 2023
  • Companies covered: 12
  • Tables & Figures: 249
  • Countries covered: 19
  • Pages: 170
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