Pompe Disease Global Market Report 2024

The pompe disease market size has grown steadily in recent years. It will grow from $1.66 billion in 2023 to $1.73 billion in 2024 at a compound annual growth rate (CAGR) of 4.2%. The expansion observed in the historical period can be ascribed to heightened awareness and diagnosis, the designation of orphan drugs and associated incentives, worldwide collaborations and research initiatives, as well as the active involvement of patient advocacy and support groups.

The pompe disease market size is expected to see strong growth in the next few years. It will grow to $2.13 billion in 2028 at a compound annual growth rate (CAGR) of 5.3%. The anticipated growth in the forecast period can be credited to ongoing research and development, the extension of newborn screening programs, progress in gene therapy, a rise in global investment in rare diseases, a focus on patient-centric drug development, the enlargement of clinical trials and research initiatives, and an emphasis on personalized medicine approaches within the market. Key trends expected in the forecast period encompass product innovation, technological advancements, the execution of patient support programs, an increasing adoption of telemedicine for patient management, and collaborative efforts for expanded access programs.

The rising prevalence of Pompe disease is anticipated to drive the growth of the Pompe disease market. Also known as glycogen storage disease type II or acid maltase deficiency, this rare genetic disorder is characterized by the accumulation of glycogen, a complex sugar molecule, in various body tissues, particularly in muscles and organs. Treatments for Pompe disease include protein replacement therapy, alglucosidase alfa, and Nexviazyme for intravenous infusion. The increase in Pompe disease cases, such as those reported by the European Medicines Agency Highlights in June 2022, is expected to contribute to the expansion of the Pompe disease market. In Europe alone, there are approximately 224 infantile-onset, 471 juvenile-onset, and 20,490 adult-onset individuals with mutations potentially causing Pompe disease.

The Pompe disease market is also experiencing significant growth due to the escalating healthcare expenditure. Governments and insurance providers increasingly recognize the importance of ensuring access to innovative therapies. According to data from the Centers for Medicare & Medicaid Services (CMS) in June 2023, the national health expenditure (NHE) in the United States reached $4.3 trillion in 2021, growing by 2.7% and accounting for 18.3% of the Gross Domestic Product (GDP). This rise in healthcare expenditure is expected to drive the Pompe disease market forward.

Product innovations are a prominent trend in the Pompe disease market, with major companies adopting innovations to maintain their market position. For example, in September 2023, Amicus Therapeutics received approval from the U.S. Food and Drug Administration (FDA) for Pombiliti and Opfolda, a two-component therapy designed for adults with late-onset Pompe disease. The therapy combines a recombinant human GAA enzyme (rhGAA) for increased uptake into muscle cells with an enzyme stabilizer (Opfolda) to stabilize the enzyme in the blood. This FDA approval highlights the importance of advancements in science and medicine.

Major companies in the Pompe disease market are focused on developing therapies such as enzyme replacement therapy (ERT) for the treatment of late-onset Pompe disease, addressing severe symptoms such as respiratory disorders and muscle failure. For instance, in August 2021, Sanofi received approval from the European Commission for Nexviazyme, an enzyme replacement treatment (ERT) targeting the mannose-6-phosphate (M6P) receptor, a primary mechanism for cellular uptake in Pompe disease. Clinical trials have shown that Nexviazyme increases respiratory function and walking distance in patients.

In January 2022, Hansa Biopharma AB and Asklepios BioPharmaceutical Inc. collaborated to assess the potential use of imlifidase as a pre-treatment before administering AskBio’s gene therapy for Pompe disease. This partnership involves a pre-clinical and clinical feasibility program for patients with pre-existing neutralizing antibodies to adeno-associated virus (AAV). Hansa will receive a $5 million payment, and AskBio holds an exclusive option for a full development and commercialization agreement based on the results of an initial Phase I/II study. AskBio will lead the pre-clinical and clinical studies, while Hansa will provide materials and additional support outlined in the feasibility program.

Major companies operating in the pompe disease market report are F. Hoffmann-La Roche AG, Bayer AG, Novartis AG, Sanofi S.A., Thermo Fisher Scientific Inc., Fresenius Kabi AG, Danaher Corporation, Becton, Dickinson and Company, Astellas Pharma Inc., BioMérieux SA, BioMarin Pharmaceutical Inc., Nova Biomedical Corporation, Instrumentation Laboratory Company, Amicus Therapeutics Inc., Sekisui Diagnostics LLC, Spark Therapeutics Inc., Sangamo BioSciences Inc., Asklepios BioPharmaceutical Inc., Avrobio Inc., EKF Diagnostics Holdings PLC, Trinity Biotech PLC, Chembio Diagnostics Inc., Audentes Therapeutics Inc., Rougine Darou, Genethon, Maze Therapeutics Inc., Avidity Biosciences Inc., EpiVax Inc., M6P Therapeutics, Oxyrane UK Limited, Valerion Therapeutics LLC.

North America was the largest region in the pompe disease market in 2023. The regions covered in the pompe disease market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa. The countries covered in the pompe disease market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Pompe disease manifests in several forms, including the classic infantile form, non-classic infantile form, late-onset form, and others. The classic infantile form is the most widely recognized, presenting significant heart dysfunction and noticeable hypotonia within a few months of birth. Diagnosis involves various methods such as blood tests, genetic tests, prenatal tests, and others. Treatment options for Pompe disease encompass oral, parenteral, and alternative approaches. Therapies include enzyme replacement therapy (ERT), substrate reduction therapy (SRT), gene therapy, and other modalities utilized by hospitals, clinics, pharmaceuticals, researchers, and other stakeholders.

The pompe disease market research report is one of a series of new reports that provides pompe disease market statistics, including pompe disease industry global market size, regional shares, competitors with a pompe disease market share, detailed pompe disease market segments, market trends and opportunities, and any further data you may need to thrive in the pompe disease industry. This pompe disease market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenario of the industry.

The pompe disease market includes revenues earned by entities by lumizyme, alglucosidase alfa, nexviazyme, and aval glucosidase alfa. The market value includes the value of related goods sold by the service provider or included within the service offering. Only goods and services traded between entities or sold to end consumers are included.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD, unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.


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