希少疾患治療薬市場- 世界の産業規模、シェア、動向、機会、予測、治療領域別、投与経路別、薬剤タイプ別、流通チャネル別、地域別、競合別、2020～2030年

希少疾患治療薬の世界市場は、2024年には1,210億5,000万米ドルとなり、2030年には2,196億6,000万米ドルに達し、CAGR 10.40％で成長すると予測されています。

同市場は、希少疾患または希少疾病の治療に重点を置いており、これらの疾病は個々には罹患者数が少ないもの、全体としては世界中で数百万人に影響を及ぼします。有病率は低いもの、治療選択肢が限られ、アンメットニーズも高いため、これらの疾患はヘルスケアの大きな課題となっています。市場の成長を牽引しているのは遺伝子研究の進歩であり、遺伝子治療やプレシジョンメディシン（精密医療）といった先進治療の開発が可能になりました。米国の希少疾病用医薬品法（Orphan Drug Act）や世界の同様の枠組みのような規制上の優遇措置が、製薬企業のこの分野への投資を後押ししています。さらに、患者擁護団体やヘルスケア団体を通じて希少疾病に対する認識が高まり、希少疾病が優先課題として位置づけられ、資金調達や技術革新に拍車がかかっています。これらの要因が相まって、治療法の進歩を支援する環境が醸成され、希少疾患の患者さんの転帰が改善されています。

市場促進要因

希少疾患患者の増加

主な市場課題

正確な診断

主要市場動向

製品イノベーションの成長

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 希少疾患治療薬市場展望

• 市場規模・予測
  • 金額別
• 市場シェア・予測
  • 治療領域別（血液疾患、がん、感染症、心血管疾患、代謝性疾患、内分泌疾患、筋骨格系疾患、その他）
  • 投与経路別（注射剤、経口剤、その他）
  • 薬剤タイプ別（生物製剤、バイオシミラー、低分子）
  • 流通チャネル別（専門薬局、病院薬局、オンライン薬局）
  • 地域別
  • 企業別（2024）
• 市場マップ

第6章 北米の希少疾患治療薬市場展望

• 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 欧州の希少疾患治療薬市場展望

• 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希少疾患治療薬市場展望

• 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 南米の希少疾患治療薬市場展望

• 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・アフリカの希少疾患治療薬市場展望

• 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 世界の希少疾患治療薬市場：SWOT分析

第14章 競合情勢

• 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 戦略的提言

第16章 調査会社について・免責事項

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