庞贝氏症治疗市场 - 全球产业规模、份额、趋势、机会和预测，按治疗类型、给药途径、最终用户、地区和竞争进行细分，2020-2030 年预测

2024 年全球庞贝氏症治疗市场价值为 15 亿美元，预计在预测期内将保持稳定成长，到 2030 年的复合年增长率为 4.40%。全球庞贝氏症治疗市场是罕见疾病和孤儿药产业中一个快速发展的领域，其驱动力来自科学进步和对创新疗法的投资不断增加。庞贝氏症，又称 II 型肝醣累积病，是一种罕见的溶小体疾病，由酸性 α-葡萄糖苷酶 (GAA) 缺乏引起，导致肌肉组织中肝醣堆积。这会导致肌肉无力和严重的呼吸併发症，需要有针对性的治疗介入。

市场主要受到酵素替代疗法 (ERT) 的影响，例如 Myozyme (alglucosidase alfa)、Lumizyme 和较新的 Nexviazyme (avalglucosidase alfa)，它们可提高肝醣清除率并改善临床效果。此外，2023 年 Pombiliti（cipaglucosidase alfa）和 Opfolda（miglustat）的批准扩大了患者的治疗选择，特别是那些对传统 ERT 反应不佳的晚髮型庞贝病 (LOPD) 患者。

儘管取得了这些进步，但由于治疗成本高且新生儿筛检计画有限，市场渗透率受到限制，导致诊断延迟和病情进展。然而，基因疗法和下一代疗法正在成为潜在的突破，正在进行的临床试验旨在提供更持久、更具成本效益的治疗替代方案。

主要市场驱动因素

提高疾病意识和诊断

主要市场挑战

疾病认知有限且诊断较晚

主要市场趋势

个人化医疗和精准治疗

目录

第 1 章：产品概述

第 2 章：研究方法

第三章：执行摘要

第四章：顾客之声

第五章：庞贝氏症治疗市场展望

• 市场规模和预测
  • 按价值
• 市场占有率和预测
  • 依治疗类型（药物、酵素替代疗法、物理治疗、陪伴-高级替代疗法）
  • 依给药途径（口服、肠胃外）
  • 按最终使用者（医院和专科诊所，其他）
  • 按地区
  • 按公司分类（2024）
• 市场地图

第六章：北美庞贝氏症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• 北美：国家分析
  • 加拿大
  • 墨西哥

第七章：欧洲庞贝氏症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• 欧洲：国家分析
  • 英国
  • 义大利
  • 法国
  • 西班牙

第八章：亚太庞贝氏症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• 亚太地区：国家分析
  • 印度
  • 日本
  • 韩国
  • 澳洲

第 9 章：南美洲庞贝氏症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• 南美洲：国家分析
  • 阿根廷
  • 哥伦比亚

第 10 章：中东和非洲庞贝氏症治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• MEA：国家分析
  • 沙乌地阿拉伯
  • 阿联酋

第 11 章：市场动态

• 驱动程式
• 挑战

第 12 章：市场趋势与发展

• 最新动态
• 产品发布
• 合併与收购

第 13 章：全球庞贝氏症治疗市场：SWOT 分析

第 14 章：竞争格局

• Genzyme Corp
• 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.

第 15 章：策略建议

第16章调查会社について・免责事项

Global Pompe Disease Therapeutics Market was valued at USD 1.50 Billion in 2024 and is anticipated to project steady growth in the forecast period with a CAGR of 4.40% through 2030. The Global Pompe Disease Therapeutics Market is a rapidly evolving segment within the rare disease and orphan drug industry, driven by scientific advancements and increasing investment in innovative therapies. Pompe disease, or glycogen storage disease type II, is a rare lysosomal disorder caused by the deficiency of acid alpha-glucosidase (GAA), leading to glycogen accumulation in muscle tissues. This results in progressive muscle weakness and severe respiratory complications, necessitating targeted therapeutic interventions.

The market is primarily shaped by enzyme replacement therapies (ERTs) such as Myozyme (alglucosidase alfa), Lumizyme, and the more recent Nexviazyme (avalglucosidase alfa), which offer improved glycogen clearance and clinical outcomes. Additionally, the approval of Pombiliti (cipaglucosidase alfa) and Opfolda (miglustat) in 2023 has expanded treatment options for patients, particularly those with late-onset Pompe disease (LOPD) who exhibit suboptimal responses to conventional ERTs.

Despite these advancements, market penetration is constrained by high treatment costs and limited newborn screening programs, leading to delayed diagnoses and disease progression. However, gene therapy and next-generation therapeutics are emerging as potential breakthroughs, with ongoing clinical trials aiming to provide more durable and cost-effective treatment alternatives.

Key Market Drivers

Increased Disease Awareness and Diagnosis

Pompe disease, often considered a rare or orphan disease, historically suffered from a lack of recognition and understanding. Pompe disease is a complex, multisystem genetic disorder with a prevalence of approximately 1 in 40,000 individuals in the United States. Increasing awareness of this rare condition is crucial, as early diagnosis and timely intervention can significantly improve patient outcomes and quality of life. Efforts to enhance disease recognition are being driven by medical institutions, patient advocacy groups, and biotech companies focused on expanding access to diagnostics and treatment. Newborn screening programs, physician education initiatives, and targeted awareness campaigns are playing a pivotal role in identifying patients earlier and facilitating access to advanced therapies. Patients faced delayed or misdiagnoses, leading to prolonged suffering and a dearth of effective treatments. Advocacy groups dedicated to Pompe disease have played a pivotal role in driving disease awareness. These organizations tirelessly work to raise public awareness, educate healthcare professionals, and provide support to affected individuals and their families. By leveraging social media, organizing awareness campaigns, and collaborating with healthcare institutions, these groups have succeeded in putting Pompe disease on the radar. The evolution of diagnostic technologies is another catalyst for increased disease awareness. Cutting-edge tools such as genetic testing and biomarker identification have revolutionized the diagnostic process. Physicians can now identify Pompe disease more accurately and swiftly, enabling timely intervention and treatment initiation. This, in turn, has elevated the importance of early diagnosis in improving patient outcomes.

Key Market Challenges

Limited Disease Awareness and Late Diagnosis

One of the foremost challenges in the Pompe Disease Therapeutics Market is the limited awareness of the disease itself, leading to delayed or missed diagnoses. Pompe disease is considered a rare condition, making it less well-known among healthcare professionals and the general public. This lack of awareness often results in late-stage diagnoses, which can significantly impact treatment outcomes.

Pompe disease's rarity, with an estimated incidence of 1 in 40,000 to 1 in 300,000 births, contributes to its obscurity. As healthcare professionals encounter rare diseases less frequently, the likelihood of prompt recognition and diagnosis diminishes. Pompe disease presents with symptoms that can overlap with those of other more common conditions, such as muscle weakness and respiratory problems. This lack of distinctiveness can lead to misdiagnoses or a failure to consider Pompe disease as a potential cause.

Key Market Trends

Personalized Medicine and Precision Therapies

One of the most significant trends in the Pompe Disease Therapeutics Market is the shift towards personalized medicine and precision therapies. Traditional treatment approaches often took a one-size-fits-all approach, but advancements in genetics and diagnostics have paved the way for tailored treatments that address the specific genetic mutations of individual patients. Advances in genetic research have provided insights into the precise genetic mutations that cause Pompe disease. This knowledge allows for the development of therapies that target the specific genetic defects in individual patients, maximizing treatment efficacy. Pharmaceutical companies are investing in innovative approaches, such as gene therapy and RNA-based therapies, that can be customized to target specific genetic mutations. These therapies hold the potential to correct the underlying genetic causes of Pompe disease. Advanced diagnostic tools, including genetic testing and biomarker identification, enable healthcare providers to identify the specific genetic mutations in Pompe disease patients. This information guides treatment decisions, ensuring that therapies are tailored to each patient's unique genetic profile.

Key Market Players

• Genzyme Corp
• 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

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

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Pompe Disease Therapeutics Market.

Available Customizations:

Global Pompe Disease Therapeutics market report with the given market data, TechSci Research offers customizations according to a company's specific needs. The following customization options are available for the report:

Company Information

• Detailed analysis and profiling of additional market players (up to five).

Table of Contents

1. Product Overview

• 1.1. Market Definition
• 1.2. Scope of the Market
  • 1.2.1. Markets Covered
  • 1.2.2. Years Considered for Study
  • 1.2.3. Key Market Segmentations

2. Research Methodology

• 2.1. Objective of the Study
• 2.2. Baseline Methodology
• 2.3. Key Industry Partners
• 2.4. Major Association and Secondary Sources
• 2.5. Forecasting Methodology
• 2.6. Data Triangulation & Validation
• 2.7. Assumptions and Limitations

3. Executive Summary

• 3.1. Overview of the Market
• 3.2. Overview of Key Market Segmentations
• 3.3. Overview of Key Market Players
• 3.4. Overview of Key Regions/Countries
• 3.5. Overview of Market Drivers, Challenges, Trends

4. Voice of Customer

5. Pompe Disease Therapeutics Market Outlook

• 5.1. Market Size & Forecast
  • 5.1.1. By Value
• 5.2. Market Share & Forecast
  • 5.2.1. By Treatment Type (Drugs, Enzyme Replacement Therapy, Physical Therapy, Chaperone-Advanced Replacement Therapy)
  • 5.2.2. By Route of Administration (Oral, Parenteral)
  • 5.2.3. By End User (Hospitals & Speciality Clinics, Other)
  • 5.2.4. By Region
  • 5.2.5. By Company (2024)
• 5.3. Market Map

6. North America Pompe Disease Therapeutics Market Outlook

• 6.1. Market Size & Forecast
  • 6.1.1. By Value
• 6.2. Market Share & Forecast
  • 6.2.1. By Treatment Type
  • 6.2.2. By Route of Administration
  • 6.2.3. By End User
  • 6.2.4. By Country
• 6.3. North America: Country Analysis
  • 6.3.1. United States Pompe Disease Therapeutics Market Outlook
    • 6.3.1.1. Market Size & Forecast
      • 6.3.1.1.1. By Value
    • 6.3.1.2. Market Share & Forecast
      • 6.3.1.2.1. By Treatment Type
      • 6.3.1.2.2. By Route of Administration
      • 6.3.1.2.3. By End User
  • 6.3.2. Canada Pompe Disease Therapeutics Market Outlook
    • 6.3.2.1. Market Size & Forecast
      • 6.3.2.1.1. By Value
    • 6.3.2.2. Market Share & Forecast
      • 6.3.2.2.1. By Treatment Type
      • 6.3.2.2.2. By Route of Administration
      • 6.3.2.2.3. By End User
  • 6.3.3. Mexico Pompe Disease Therapeutics Market Outlook
    • 6.3.3.1. Market Size & Forecast
      • 6.3.3.1.1. By Value
    • 6.3.3.2. Market Share & Forecast
      • 6.3.3.2.1. By Treatment Type
      • 6.3.3.2.2. By Route of Administration
      • 6.3.3.2.3. By End User

7. Europe Pompe Disease Therapeutics Market Outlook

• 7.1. Market Size & Forecast
  • 7.1.1. By Value
• 7.2. Market Share & Forecast
  • 7.2.1. By Treatment Type
  • 7.2.2. By Route of Administration
  • 7.2.3. By End User
  • 7.2.4. By Country
• 7.3. Europe: Country Analysis
  • 7.3.1. Germany Pompe Disease Therapeutics Market Outlook
    • 7.3.1.1. Market Size & Forecast
      • 7.3.1.1.1. By Value
    • 7.3.1.2. Market Share & Forecast
      • 7.3.1.2.1. By Treatment Type
      • 7.3.1.2.2. By Route of Administration
      • 7.3.1.2.3. By End User
  • 7.3.2. United Kingdom Pompe Disease Therapeutics Market Outlook
    • 7.3.2.1. Market Size & Forecast
      • 7.3.2.1.1. By Value
    • 7.3.2.2. Market Share & Forecast
      • 7.3.2.2.1. By Treatment Type
      • 7.3.2.2.2. By Route of Administration
      • 7.3.2.2.3. By End User
  • 7.3.3. Italy Pompe Disease Therapeutics Market Outlook
    • 7.3.3.1. Market Size & Forecast
      • 7.3.3.1.1. By Value
    • 7.3.3.2. Market Share & Forecast
      • 7.3.3.2.1. By Treatment Type
      • 7.3.3.2.2. By Route of Administration
      • 7.3.3.2.3. By End User
  • 7.3.4. France Pompe Disease Therapeutics Market Outlook
    • 7.3.4.1. Market Size & Forecast
      • 7.3.4.1.1. By Value
    • 7.3.4.2. Market Share & Forecast
      • 7.3.4.2.1. By Treatment Type
      • 7.3.4.2.2. By Route of Administration
      • 7.3.4.2.3. By End User
  • 7.3.5. Spain Pompe Disease Therapeutics Market Outlook
    • 7.3.5.1. Market Size & Forecast
      • 7.3.5.1.1. By Value
    • 7.3.5.2. Market Share & Forecast
      • 7.3.5.2.1. By Treatment Type
      • 7.3.5.2.2. By Route of Administration
      • 7.3.5.2.3. By End User

8. Asia-Pacific Pompe Disease Therapeutics Market Outlook

• 8.1. Market Size & Forecast
  • 8.1.1. By Value
• 8.2. Market Share & Forecast
  • 8.2.1. By Treatment Type
  • 8.2.2. By Route of Administration
  • 8.2.3. By End User
  • 8.2.4. By Country
• 8.3. Asia-Pacific: Country Analysis
  • 8.3.1. China Pompe Disease Therapeutics Market Outlook
    • 8.3.1.1. Market Size & Forecast
      • 8.3.1.1.1. By Value
    • 8.3.1.2. Market Share & Forecast
      • 8.3.1.2.1. By Treatment Type
      • 8.3.1.2.2. By Route of Administration
      • 8.3.1.2.3. By End User
  • 8.3.2. India Pompe Disease Therapeutics Market Outlook
    • 8.3.2.1. Market Size & Forecast
      • 8.3.2.1.1. By Value
    • 8.3.2.2. Market Share & Forecast
      • 8.3.2.2.1. By Treatment Type
      • 8.3.2.2.2. By Route of Administration
      • 8.3.2.2.3. By End User
  • 8.3.3. Japan Pompe Disease Therapeutics Market Outlook
    • 8.3.3.1. Market Size & Forecast
      • 8.3.3.1.1. By Value
    • 8.3.3.2. Market Share & Forecast
      • 8.3.3.2.1. By Treatment Type
      • 8.3.3.2.2. By Route of Administration
      • 8.3.3.2.3. By End User
  • 8.3.4. South Korea Pompe Disease Therapeutics Market Outlook
    • 8.3.4.1. Market Size & Forecast
      • 8.3.4.1.1. By Value
    • 8.3.4.2. Market Share & Forecast
      • 8.3.4.2.1. By Treatment Type
      • 8.3.4.2.2. By Route of Administration
      • 8.3.4.2.3. By End User
  • 8.3.5. Australia Pompe Disease Therapeutics Market Outlook
    • 8.3.5.1. Market Size & Forecast
      • 8.3.5.1.1. By Value
    • 8.3.5.2. Market Share & Forecast
      • 8.3.5.2.1. By Treatment Type
      • 8.3.5.2.2. By Route of Administration
      • 8.3.5.2.3. By End User

9. South America Pompe Disease Therapeutics Market Outlook

• 9.1. Market Size & Forecast
  • 9.1.1. By Value
• 9.2. Market Share & Forecast
  • 9.2.1. By Treatment Type
  • 9.2.2. By Route of Administration
  • 9.2.3. By End User
  • 9.2.4. By Country
• 9.3. South America: Country Analysis
  • 9.3.1. Brazil Pompe Disease Therapeutics Market Outlook
    • 9.3.1.1. Market Size & Forecast
      • 9.3.1.1.1. By Value
    • 9.3.1.2. Market Share & Forecast
      • 9.3.1.2.1. By Treatment Type
      • 9.3.1.2.2. By Route of Administration
      • 9.3.1.2.3. By End User
  • 9.3.2. Argentina Pompe Disease Therapeutics Market Outlook
    • 9.3.2.1. Market Size & Forecast
      • 9.3.2.1.1. By Value
    • 9.3.2.2. Market Share & Forecast
      • 9.3.2.2.1. By Treatment Type
      • 9.3.2.2.2. By Route of Administration
      • 9.3.2.2.3. By End User
  • 9.3.3. Colombia Pompe Disease Therapeutics Market Outlook
    • 9.3.3.1. Market Size & Forecast
      • 9.3.3.1.1. By Value
    • 9.3.3.2. Market Share & Forecast
      • 9.3.3.2.1. By Treatment Type
      • 9.3.3.2.2. By Route of Administration
      • 9.3.3.2.3. By End User

10. Middle East and Africa Pompe Disease Therapeutics Market Outlook

• 10.1. Market Size & Forecast
  • 10.1.1. By Value
• 10.2. Market Share & Forecast
  • 10.2.1. By Treatment Type
  • 10.2.2. By Route of Administration
  • 10.2.3. By End User
  • 10.2.4. By Country
• 10.3. MEA: Country Analysis
  • 10.3.1. South Africa Pompe Disease Therapeutics Market Outlook
    • 10.3.1.1. Market Size & Forecast
      • 10.3.1.1.1. By Value
    • 10.3.1.2. Market Share & Forecast
      • 10.3.1.2.1. By Treatment Type
      • 10.3.1.2.2. By Route of Administration
      • 10.3.1.2.3. By End User
  • 10.3.2. Saudi Arabia Pompe Disease Therapeutics Market Outlook
    • 10.3.2.1. Market Size & Forecast
      • 10.3.2.1.1. By Value
    • 10.3.2.2. Market Share & Forecast
      • 10.3.2.2.1. By Treatment Type
      • 10.3.2.2.2. By Route of Administration
      • 10.3.2.2.3. By End User
  • 10.3.3. UAE Pompe Disease Therapeutics Market Outlook
    • 10.3.3.1. Market Size & Forecast
      • 10.3.3.1.1. By Value
    • 10.3.3.2. Market Share & Forecast
      • 10.3.3.2.1. By Treatment Type
      • 10.3.3.2.2. By Route of Administration
      • 10.3.3.2.3. By End User

11. Market Dynamics

• 11.1. Drivers
• 11.2. Challenges

12. Market Trends & Developments

• 12.1. Recent Developments
• 12.2. Product Launches
• 12.3. Mergers & Acquisitions

13. Global Pompe Disease Therapeutics Market: SWOT Analysis

14. Competitive Landscape

• 14.1. Genzyme Corp
  • 14.1.1. Business Overview
  • 14.1.2. Product & Service Offerings
  • 14.1.3. Recent Developments
  • 14.1.4. Financials (If Listed)
  • 14.1.5. Key Personnel
  • 14.1.6. SWOT Analysis
• 14.2. Amicus Therapeutics Inc
• 14.3. Valerion Therapeutics LLC
• 14.4. Audentes Therapeutics Inc
• 14.5. Actus Therapeutics Inc
• 14.6. BioMarin Pharmaceutical Inc
• 14.7. EpiVax inc
• 14.8. Oxyrane Co Ltd.
• 14.9. Sangamo BioSciences Inc
• 14.10.Avrobio Inc
• 14.11.Spark Therapeutics Inc.

15. Strategic Recommendations

16. About Us & Disclaimer