| Study Period | 2019 - 2030 |
| Base Year For Estimation | 2024 |
| Forecast Data Period | 2025 - 2030 |
| CAGR | 4.50 % |
| Fastest Growing Market | Asia-Pacific |
| Largest Market | North America |
| Market Concentration | Medium |
Major Players
*Disclaimer: Major Players sorted in no particular order |
Pompe Disease Market Analysis
The Pompe Disease Market is expected to register a CAGR of 4.5% during the forecast period.
The COVID-19 pandemic impacted market growth. It resulted in benign Pompe diseases in many individuals. For instance, according to the NCBI research study published in March 2022, in some Pompe disease patients, the COVID-19 infection could have a benign outcome. The same source also stated that individuals with Pompe disease were at a high risk of acquiring COVID-19 infection. Thus, the outbreak of the pandemic increased the incidence rate of Pompe disease, which significantly increased the demand for drugs and treatment for the disease and is expected to maintain the upward trend over the forecast period.
The market's growth is largely attributed to the launch of novel drugs and the continued uptake of long-term therapies. Pompe disease is a rare disease classified as early infantile or late-onset, majorly affecting skeletal muscle, heart defects, and breathing problems. For instance, according to the National Institute of Health publication from April 2022, Pompe disease affects 1 in 40,000 individuals in the United States. Moreover, according to the research study published in June 2021, pathogenic or likely pathogenic variants (PLPVs) were found in higher proportions in East Asian and African patients with classic infantile-onset Pompe disease. The same source also reported that in the general population, total carrier frequency (CF) and predicted genetic prevalence (pGP) were 1.3 percent (1 in 77) and 1:23,232, respectively. Thus, the rising prevalence of Pompe disease is anticipated to boost market growth over the forecast period.
The launch of novel drugs is anticipated to boost demand for the treatment of Pompe disease, which may further drive market growth. Moreover, increasing R&D expenditure globally will also promote working on novel therapeutics and the treatment of Pompe disease, as this disease mostly leads to death if not treated at an early stage. For instance, in February 2021, Genethon launched a gene therapy clinical trial for late-onset Pompe disease, led by the company Spark Therapeutics, using technologies developed at Genethon. Furthermore, increasing development in enzyme replacement therapies and gene therapy may also create a lucrative opportunity for the Pompe disease market over the forecast period, as this therapy is widely used to treat this disorder. Therefore, increasing product launches and research and development related to Pompe disease are anticipated to spur market growth over the forecast period.
However, high treatment costs associated with Pompe disease may restrain market growth over the forecast period.
Pompe Disease Market Trends
Enzyme Replacement Therapy (ERT) Segment is Estimated to Witness a Considerable Growth Over the Forecast Period
Enzyme replacement therapy (ERT) is a medical treatment in which replacement enzymes are administered to patients who suffer from chronic conditions caused by enzyme deficiency or malfunction. The most common method of ERT is intravenous infusions, in which the replacement enzyme is given directly into the bloodstream through a controlled fluid drip. Replacement enzymes for ERT are derived from human, animal, and plant cells, which are then genetically modified and processed before administration to the patient. By receiving these enzyme replacements, the body can successfully perform the functions inhibited by the deficiency. This therapy is the only effective treatment wherein the enzyme alpha-glucosidase, which is deficient in Pompe disease, is given by injection. This will reduce and slow the progression of muscle wasting and heart problems.
The efficiency of enzyme replacement therapy (ERT), the increasing cases of Pompe disease, and rising research funding for rare diseases are the major drivers for the segment. For instance, according to the research study published in November 2021, the only approved treatment for Pompe disease is enzyme replacement therapy (ERT), which involves the administration of rhGAA intravenously. Therefore, the effectiveness of ERT therapy for Pompe disease, the only therapy approved by the U.S. FDA, has increased demand for enzyme replacement therapy (ERT), which is anticipated to drive segment growth. Furthermore, the product launches by the key market players with respect to the segment are also anticipated to drive market growth over the forecast period. For instance, in August 2021, the U.S. FDA approved a new enzyme replacement therapy, Nexviazyme (alglucosidase alfa-ngpt) of Sanofi Genzyme, for patients aged 1 year and older with late-onset Pompe disease.
So, the segment is expected to grow a lot over the next few years because enzyme replacement therapy (ERT) works well and new products are coming out.
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North America is Expected to Witness a Significant Growth Over the Forecast Period
North America is expected to witness considerable growth over the forecast period. The growth is due to factors such as the increasing launch of novel drugs, the presence of a large number of pharmaceutical companies, growing research and development expenditure, and increasing patient preference associated with advanced therapies, product launches, and technological advancements. For instance, according to the research study published in the International Journal of Neonatal Screening in March 2021, California examined over half a million infants, with a birth frequency of 1 in every 25,200 in 2021. In addition, as per the research journal published in November 2021, the prevalence of late-onset Pompe disease (LOPD) in people across the United States, Montreal, and Canada is estimated to be 1.0%. As a result, the rise in Pompe disease prevalence is expected to boost market growth in the North American region.
Key product launches, a high concentration of market players or manufacturers' presence, acquisitions and partnerships among major players, the increasing prevalence of Pompe disease, and rising government initiatives in the United States are some of the factors driving the growth of the Pompe disease market in the country. For instance, in January 2021, The Assistance Fund (TAF) launched a new program for qualified persons living with Pompe disease to assist them and their families with out-of-pocket medical costs. The program helps with treatment-related copayments, health insurance premiums, and other medical expenses associated with the metabolic condition, which affects around one out of every 40,000 people in the United States. For instance, in February 2021, Spark Therapeutics, a member of the Roche Group, announced the dosing of the first participant in the Phase 1/2 RESOLUTESM trial of SPK-3006, an investigational liver-directed adeno-associated viral (AAV) vector gene therapy for late-onset Pompe disease (LOPD). Therefore, increasing awareness about Pompe disease and product launches are expected to fuel market growth in the country.
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Pompe Disease Industry Overview
The Pompe disease market is moderately competitive and consists of several major players. Some companies currently dominating the market are Amicus Therapeutics, EpiVax, Inc., Oxyrane, Sanofi, Astellas Pharma, and Genethon, among others.
Pompe Disease Market Leaders
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Amicus Therapeutics
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EpiVax, Inc
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Sanofi Inc.
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AVROBIO, Inc.
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Astellas Pharma
- *Disclaimer: Major Players sorted in no particular order
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Pompe Disease Market News
- June 2022: The European Commission granted marketing authorization for Nexvia Dyme (alglucosidase alfa), an enzyme replacement therapy (ERT) for the long-term treatment of both late-onset and infantile-onset Pompe disease, a rare, progressive, and debilitating muscle disorder.
- February 2022: Maze Therapeutics, a company translating genetic insights into new precision medicines, reported new preclinical data supporting the advancement of MZE001, which aims to address Pompe disease by reducing pathologic glycogen accumulation through the inhibition of muscle glycogen synthase (GYS1).
Pompe Disease Industry Segmentation
As per the scope of the report, Pompe disease, also known as glycogen storage disease type II disorder, is an autosomal recessively inherited metabolic disorder caused by glycogen accumulation in the lysosome. Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited, and often fatal condition that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). The Pompe Disease Market is segmented by Route of Administration (Oral and Parenteral), Treatment Type (Substrate Reduction Therapy (SRT), Enzyme Replacement Therapy (ERT), and Others), End User (Hospitals, Ambulatory Surgery Centers, and Others), and Geography (North America, Europe, Asia Pacific, the Middle East and Africa, and South America). The report offers the value (in USD million) for the above segments. The market report also covers the estimated market sizes and trends for 17 countries across major regions globally. The report assigns a value of (USD million) to the aforementioned segments.
| By Route of Administration | Oral | ||
| Parenteral | |||
| By Treatment Type | Substrate Reduction Therapy (SRT) | ||
| Enzyme Replacement Therapy (ERT) | |||
| Other Treatment Types | |||
| By End-User | Hospitals | ||
| Ambulatory Surgical Centers | |||
| Other End-Users | |||
| Geography | North America | United States | |
| Canada | |||
| Mexico | |||
| Europe | Germany | ||
| United Kingdom | |||
| France | |||
| Italy | |||
| Spain | |||
| Rest of Europe | |||
| Asia-Pacific | China | ||
| Japan | |||
| India | |||
| Australia | |||
| South Korea | |||
| Rest of Asia-Pacific | |||
| Middle East and Africa | GCC | ||
| South Africa | |||
| Rest of Middle East and Africa | |||
| South America | Brazil | ||
| Argentina | |||
| Rest of South America | |||
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Pompe Disease Market Research FAQs
What is the current Pompe Disease Market size?
The Pompe Disease Market is projected to register a CAGR of 4.5% during the forecast period (2025-2030)
Who are the key players in Pompe Disease Market?
Amicus Therapeutics, EpiVax, Inc, Sanofi Inc., AVROBIO, Inc. and Astellas Pharma are the major companies operating in the Pompe Disease Market.
Which is the fastest growing region in Pompe Disease Market?
Asia-Pacific is estimated to grow at the highest CAGR over the forecast period (2025-2030).
Which region has the biggest share in Pompe Disease Market?
In 2025, the North America accounts for the largest market share in Pompe Disease Market.
What years does this Pompe Disease Market cover?
The report covers the Pompe Disease Market historical market size for years: 2019, 2020, 2021, 2022, 2023 and 2024. The report also forecasts the Pompe Disease Market size for years: 2025, 2026, 2027, 2028, 2029 and 2030.
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Statistics for the 2025 Pompe Disease market share, size and revenue growth rate, created by Mordor Intelligence™ Industry Reports. Pompe Disease analysis includes a market forecast outlook for 2025 to 2030 and historical overview. Get a sample of this industry analysis as a free report PDF download.
