罕见疾病治疗市场－全球产业规模、份额、趋势、机会及预测，依治疗领域、给药途径、药物类型、配销通路、地区及竞争情况划分，2020-2030 年预测

2024 年全球罕见疾病治疗市场价值为 1,210.5 亿美元，预计到 2030 年将达到 2,196.6 亿美元，复合年增长率为 10.40%。该市场专注于治疗罕见疾病或孤儿病，这些疾病单一患者仅影响少数人群，但集体患病则影响全球数百万人。儘管这些疾病的发生率低，但由于治疗选择有限且未满足的需求很高，因此代表着严重的医疗保健问题。市场成长得益于基因研究的进步，这使得基因疗法和精准医疗等先进疗法得以开发。美国《孤儿药法案》以及全球类似框架等监管激励措施鼓励製药公司投资该领域。此外，透过患者权益倡导和医疗保健组织提高意识，已将罕见疾病列为优先事项，刺激了资金投入和创新。这些因素共同创造了有利于治疗进步的环境，并改善了罕见疾病患者的预后。

关键市场驱动因素

罕见疾病患者数量不断增加

主要市场挑战

准确诊断

主要市场趋势

不断成长的产品创新

目录

第 1 章：产品概述

第二章：研究方法

第三章：执行摘要

第四章：顾客之声

第五章：罕见疾病治疗市场展望

• 市场规模和预测
  • 按价值
• 市场占有率和预测
  • 依治疗领域（血液疾病、癌症、传染病、心血管疾病、代谢性疾病、内分泌疾病、肌肉骨骼疾病、其他）
  • 依给药途径（注射、口服、其他）
  • 依药物类型（生物製剂、生物相似药、小分子）
  • 依配销通路（专科药房、医院药房、网路药房）
  • 按地区
  • 按公司分类（2024）
• 市场地图

第六章：北美罕见疾病治疗市场展望

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

第七章：欧洲罕见疾病治疗市场展望

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

第八章：亚太罕见疾病治疗市场展望

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

第九章：南美洲罕见疾病治疗市场展望

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

第十章：中东和非洲罕见疾病治疗市场展望

• 市场规模和预测
• 市场占有率和预测
• MEA：国家分析
  • 南非
  • 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
• 併购

第 13 章：全球罕见疾病治疗市场：SWOT 分析

第 14 章：竞争格局

• Novartis AG
• AstraZeneca PLC
• Pfizer Inc.
• Sanofi SA
• AbbVie Inc
• Bristol-Myers Squibb Co
• Bayer AG
• F Hoffmann-La Roche Ltd.
• Amgen Inc
• Eisai Co Ltd
• Novo Nordisk A/S

第 15 章：策略建议

第16章调查会社について・免责事项

The Global Rare Disease Therapeutics Market was valued at USD 121.05 Billion in 2024 and is projected to reach USD 219.66 Billion by 2030, growing at a CAGR of 10.40%. This market focuses on treatments for rare or orphan diseases, which individually affect small populations but collectively impact millions worldwide. Despite their low prevalence, these diseases represent a significant healthcare concern due to limited treatment options and high unmet needs. The market's growth is driven by progress in genetic research, which has enabled the development of advanced therapies such as gene therapy and precision medicine. Regulatory incentives like the Orphan Drug Act in the U.S. and similar frameworks globally have encouraged pharmaceutical companies to invest in this sector. Additionally, increasing awareness through patient advocacy and healthcare organizations has elevated rare diseases as a priority, spurring funding and innovation. Together, these factors are fostering a supportive environment for therapeutic advancements and improving outcomes for individuals affected by rare diseases.

Key Market Drivers

Rising Number of Patients with Rare Diseases

The growing recognition of rare diseases, which number around 7,000 globally, is a significant driver for the market. Conditions such as cystic fibrosis, cat eye syndrome, and numerous rare cancers and metabolic disorders often lack effective treatments. According to the Indian Organization for Rare Diseases, a vast majority of these conditions still do not have targeted therapies. Similarly, the World Economic Forum reported in 2020 that approved treatments are available for only about 5% of known rare diseases, underscoring an enormous unmet medical need. In Europe, rare diseases affect approximately 6% to 8% of the population, amounting to nearly 30 million people. However, the individual rarity of each condition leads to limited research investment, late diagnoses, and inadequate treatment infrastructure. This "rarity paradox" highlights the mismatch between collective prevalence and resource allocation, emphasizing the need for policy reform, cross-border research collaboration, and incentivized innovation to address therapeutic gaps for this large patient population.

Key Market Challenges

Accurate Diagnosis

Accurate diagnosis remains a major barrier in rare disease management. For many patients, securing a definitive diagnosis can take up to five years due to the subtle and often non-specific nature of symptoms. Physicians may struggle to identify rare conditions, particularly those they have never encountered. In such cases, comprehensive genetic testing may be required to detect disease-related mutations. However, interpreting complex genetic data poses challenges, especially in the absence of specialists. To improve diagnostic accuracy, patients benefit most from referrals to clinical geneticists or healthcare providers with experience in managing rare diseases. Delays in diagnosis hinder timely treatment initiation and reduce eligibility for clinical trials, making early identification critical for improving patient outcomes and accelerating research.

Key Market Trends

Growing Product Innovation

The growing demand for rare disease treatments has spurred significant product innovation. Leading pharmaceutical companies are accelerating the development and global rollout of new therapies. For example, in February 2023, Sanofi announced plans to launch two orphan drugs in India: Nexviazyme (avalglucosidase alfa) for Pompe disease and Xenpozyme (olipudase alfa) for Niemann-Pick disease (ASMD). Both drugs are already approved in markets such as the U.S., EU, UK, Japan, and Australia, and have received waivers for Phase III and IV trials in India. This trend highlights a broader industry shift toward expanding access to specialized treatments in emerging markets, supported by regulatory flexibility and increased investment in research. As more therapies secure global approvals, innovation continues to reshape the landscape, offering hope for patients with previously untreatable conditions.

Key Market Players

• Novartis AG
• AstraZeneca PLC
• Pfizer Inc.
• Sanofi SA
• AbbVie Inc
• Bristol-Myers Squibb Co
• Bayer AG
• F Hoffmann-La Roche Ltd.
• Amgen Inc
• Eisai Co Ltd
• Novo Nordisk A/S

Report Scope:

In this report, the Global Rare Disease Therapeutics Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Rare Disease Therapeutics Market, By Therapeutic Area:

• Hematologic Diseases
• Cancer
• Infectious Diseases
• Cardiovascular Diseases
• Metabolic Diseases
• Endocrine Diseases
• Musculoskeletal Diseases
• Others

Rare Disease Therapeutics Market, By Route of Administration:

• Injectable
• Oral
• Others

Rare Disease Therapeutics Market, By Drug Type:

• Biologics
• Biosimilar
• Small Molecules

Rare Disease Therapeutics Market, By Distribution Channel:

• Specialty Pharmacies
• Hospital Pharmacies
• Online Pharmacies

Rare 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 Rare Disease Therapeutics Market.

Available Customizations:

Global Rare 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. Rare Disease Therapeutics Market Outlook

• 5.1. Market Size & Forecast
  • 5.1.1. By Value
• 5.2. Market Share & Forecast
  • 5.2.1. By Therapeutic Area (Hematologic Diseases, Cancer, Infectious Diseases, Cardiovascular Diseases, Metabolic Diseases, Endocrine Diseases, Musculoskeletal Diseases, Others)
  • 5.2.2. By Route of Administration (Injectable, Oral, Others)
  • 5.2.3. By Drug Type (Biologics, Biosimilar, Small Molecules)
  • 5.2.4. By Distribution Channel (Specialty Pharmacies, Hospital Pharmacies, Online Pharmacies)
  • 5.2.5. By Region
  • 5.2.6. By Company (2024)
• 5.3. Market Map

6. North America Rare Disease Therapeutics Market Outlook

• 6.1. Market Size & Forecast
  • 6.1.1. By Value
• 6.2. Market Share & Forecast
  • 6.2.1. By Therapeutic Area
  • 6.2.2. By Route of Administration
  • 6.2.3. By Drug Type
  • 6.2.4. By Distribution Channel
  • 6.2.5. By Country
• 6.3. North America: Country Analysis
  • 6.3.1. United States Rare 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 Therapeutic Area
      • 6.3.1.2.2. By Route of Administration
      • 6.3.1.2.3. By Drug Type
      • 6.3.1.2.4. By Distribution Channel
  • 6.3.2. Canada Rare 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 Therapeutic Area
      • 6.3.2.2.2. By Route of Administration
      • 6.3.2.2.3. By Drug Type
      • 6.3.2.2.4. By Distribution Channel
  • 6.3.3. Mexico Rare 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 Therapeutic Area
      • 6.3.3.2.2. By Route of Administration
      • 6.3.3.2.3. By Drug Type
      • 6.3.3.2.4. By Distribution Channel

7. Europe Rare Disease Therapeutics Market Outlook

• 7.1. Market Size & Forecast
  • 7.1.1. By Value
• 7.2. Market Share & Forecast
  • 7.2.1. By Therapeutic Area
  • 7.2.2. By Route of Administration
  • 7.2.3. By Drug Type
  • 7.2.4. By Distribution Channel
  • 7.2.5. By Country
• 7.3. Europe: Country Analysis
  • 7.3.1. Germany Rare 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 Therapeutic Area
      • 7.3.1.2.2. By Route of Administration
      • 7.3.1.2.3. By Drug Type
      • 7.3.1.2.4. By Distribution Channel
  • 7.3.2. United Kingdom Rare 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 Therapeutic Area
      • 7.3.2.2.2. By Route of Administration
      • 7.3.2.2.3. By Drug Type
      • 7.3.2.2.4. By Distribution Channel
  • 7.3.3. Italy Rare 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 Therapeutic Area
      • 7.3.3.2.2. By Route of Administration
      • 7.3.3.2.3. By Drug Type
      • 7.3.3.2.4. By Distribution Channel
  • 7.3.4. France Rare 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 Therapeutic Area
      • 7.3.4.2.2. By Route of Administration
      • 7.3.4.2.3. By Drug Type
      • 7.3.4.2.4. By Distribution Channel
  • 7.3.5. Spain Rare 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 Therapeutic Area
      • 7.3.5.2.2. By Route of Administration
      • 7.3.5.2.3. By Drug Type
      • 7.3.5.2.4. By Distribution Channel

8. Asia-Pacific Rare Disease Therapeutics Market Outlook

• 8.1. Market Size & Forecast
  • 8.1.1. By Value
• 8.2. Market Share & Forecast
  • 8.2.1. By Therapeutic Area
  • 8.2.2. By Route of Administration
  • 8.2.3. By Drug Type
  • 8.2.4. By Distribution Channel
  • 8.2.5. By Country
• 8.3. Asia-Pacific: Country Analysis
  • 8.3.1. China Rare 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 Therapeutic Area
      • 8.3.1.2.2. By Route of Administration
      • 8.3.1.2.3. By Drug Type
      • 8.3.1.2.4. By Distribution Channel
  • 8.3.2. India Rare 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 Therapeutic Area
      • 8.3.2.2.2. By Route of Administration
      • 8.3.2.2.3. By Drug Type
      • 8.3.2.2.4. By Distribution Channel
  • 8.3.3. Japan Rare 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 Therapeutic Area
      • 8.3.3.2.2. By Route of Administration
      • 8.3.3.2.3. By Drug Type
      • 8.3.3.2.4. By Distribution Channel
  • 8.3.4. South Korea Rare 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 Therapeutic Area
      • 8.3.4.2.2. By Route of Administration
      • 8.3.4.2.3. By Drug Type
      • 8.3.4.2.4. By Distribution Channel
  • 8.3.5. Australia Rare 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 Therapeutic Area
      • 8.3.5.2.2. By Route of Administration
      • 8.3.5.2.3. By Drug Type
      • 8.3.5.2.4. By Distribution Channel

9. South America Rare Disease Therapeutics Market Outlook

• 9.1. Market Size & Forecast
  • 9.1.1. By Value
• 9.2. Market Share & Forecast
  • 9.2.1. By Therapeutic Area
  • 9.2.2. By Route of Administration
  • 9.2.3. By Drug Type
  • 9.2.4. By Distribution Channel
  • 9.2.5. By Country
• 9.3. South America: Country Analysis
  • 9.3.1. Brazil Rare 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 Therapeutic Area
      • 9.3.1.2.2. By Route of Administration
      • 9.3.1.2.3. By Drug Type
      • 9.3.1.2.4. By Distribution Channel
  • 9.3.2. Argentina Rare 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 Therapeutic Area
      • 9.3.2.2.2. By Route of Administration
      • 9.3.2.2.3. By Drug Type
      • 9.3.2.2.4. By Distribution Channel
  • 9.3.3. Colombia Rare 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 Therapeutic Area
      • 9.3.3.2.2. By Route of Administration
      • 9.3.3.2.3. By Drug Type
      • 9.3.3.2.4. By Distribution Channel

10. Middle East and Africa Rare Disease Therapeutics Market Outlook

• 10.1. Market Size & Forecast
  • 10.1.1. By Value
• 10.2. Market Share & Forecast
  • 10.2.1. By Therapeutic Area
  • 10.2.2. By Route of Administration
  • 10.2.3. By Drug Type
  • 10.2.4. By Distribution Channel
  • 10.2.5. By Country
• 10.3. MEA: Country Analysis
  • 10.3.1. South Africa Rare 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 Therapeutic Area
      • 10.3.1.2.2. By Route of Administration
      • 10.3.1.2.3. By Drug Type
      • 10.3.1.2.4. By Distribution Channel
  • 10.3.2. Saudi Arabia Rare 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 Therapeutic Area
      • 10.3.2.2.2. By Route of Administration
      • 10.3.2.2.3. By Drug Type
      • 10.3.2.2.4. By Distribution Channel
  • 10.3.3. UAE Rare 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 Therapeutic Area
      • 10.3.3.2.2. By Route of Administration
      • 10.3.3.2.3. By Drug Type
      • 10.3.3.2.4. By Distribution Channel

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 Rare Disease Therapeutics Market: SWOT Analysis

14. Competitive Landscape

• 14.1. Novartis AG
  • 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. AstraZeneca PLC
• 14.3. Pfizer Inc.
• 14.4. Sanofi SA
• 14.5. AbbVie Inc
• 14.6. Bristol-Myers Squibb Co
• 14.7. Bayer AG
• 14.8. F Hoffmann-La Roche Ltd.
• 14.9. Amgen Inc
• 14.10.Eisai Co Ltd
• 14.11.Novo Nordisk A/S

15. Strategic Recommendations

16. About Us & Disclaimer