ポンペ病治療薬市場- 世界の産業規模、シェア、動向、機会、予測、治療タイプ別、投与経路別、エンドユーザー別、地域別、競合別、2020-2030F

ポンペ病治療薬の世界市場規模は2024年に15億米ドルとなり、予測期間では2030年までCAGR 4.40%で着実な成長が予測されています。

世界のポンペ病治療薬市場は、希少疾病および希少疾病治療薬業界の中でも急速に発展している分野であり、科学の進歩や革新的な治療法への投資の増加によって牽引されています。ポンペ病（グリコーゲン貯蔵病II型）は、酸性α-グルコシダーゼ（GAA）の欠損によって引き起こされる希少なライソゾーム病であり、筋肉組織にグリコーゲンが蓄積します。その結果、進行性の筋力低下と重篤な呼吸器合併症を引き起こし、標的を絞った治療介入が必要となります。

市場は主に、グリコーゲンクリアランスと臨床転帰を改善するMyozyme（alglucosidase alfa）、Lumizyme、最近のNexviazyme（avalglucosidase alfa）などの酵素補充療法（ERT）によって形成されています。さらに、ポンビリチ（シパグルコシダーゼ・アルファ）とオプフォルダ（ミグルスタット）が2023年に承認されたことにより、特に従来のERTに対する反応が不十分な晩発性ポンペ病（LOPD）患者に対する治療の選択肢が広がりました。

このような進歩にもかかわらず、高い治療費と限られた新生児スクリーニングプログラムにより、診断の遅れと疾患の進行が市場浸透の制約となっています。しかし、遺伝子治療や次世代治療薬が画期的な治療法として台頭してきており、現在進行中の臨床試験では、より耐久性があり費用対効果の高い治療法の提供が目指されています。

市場促進要因

疾患に対する認識と診断の向上

主な市場課題

限られた疾患認識と診断の遅れ

主要市場動向

個別化医療と精密治療

目次

第1章 概要

第2章 調査手法

第3章 エグゼクティブサマリー

第4章 顧客の声

第5章 ポンペ病治療薬市場展望

• 市場規模・予測
  • 金額別
• 市場シェア・予測
  • 治療の種類別（薬物療法、酵素補充療法、理学療法、シャペロン高度補充療法）
  • 投与経路（経口、非経口）
  • エンドユーザー別（病院、専門クリニック、その他）
  • 地域別
  • 企業別（2024）
• 市場マップ

第6章 北米のポンペ病治療薬市場展望

• 市場規模・予測
• 市場シェア・予測
• 北米：国別分析
  • 米国
  • カナダ
  • メキシコ

第7章 欧州のポンペ病治療薬市場展望

• 市場規模・予測
• 市場シェア・予測
• 欧州：国別分析
  • ドイツ
  • 英国
  • イタリア
  • フランス
  • スペイン

第8章 アジア太平洋地域のポンペ病治療薬市場展望

• 市場規模・予測
• 市場シェア・予測
• アジア太平洋地域：国別分析
  • 中国
  • インド
  • 日本
  • 韓国
  • オーストラリア

第9章 南米のポンペ病治療薬市場展望

• 市場規模・予測
• 市場シェア・予測
• 南米：国別分析
  • ブラジル
  • アルゼンチン
  • コロンビア

第10章 中東・アフリカのポンペ病治療薬市場展望

• 市場規模・予測
• 市場シェア・予測
• 中東・アフリカ：国別分析
  • 南アフリカ
  • サウジアラビア
  • アラブ首長国連邦

第11章 市場力学

• 促進要因
• 課題

第12章 市場動向と発展

• 最近の動向
• 製品上市
• 合併と買収

第13章 世界のポンペ病治療薬市場：SWOT分析

第14章 競合情勢

• 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 戦略的提言

第16章 調査会社について・免責事項

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