희귀질환 치료제 시장 : 세계 산업 규모, 점유율, 동향, 기회, 예측, 치료 영역별, 투여 경로별, 약제 유형별, 유통 채널별, 지역별, 경쟁별(2020-2030년)
Rare Disease Therapeutics Market - Global Industry Size, Share, Trends, Opportunity & Forecast, Segmented By Therapeutic Area, By Route of Administration, By Drug Type, By Distribution Channel, By Region & Competition, 2020-2030F
세계의 희귀질환 치료제 시장은 2024년에는 1,210억 5,000만 달러에 달하며, 2030년에는 2,196억 6,000만 달러에 달하며, CAGR 10.40%로 성장할 것으로 예측됩니다.
이 시장은 희귀질환 또는 희귀질환 치료에 초점을 맞추고 있으며, 이들 질환은 개별적으로는 환자 수가 적지만 전체적으로 전 세계 수백만 명에게 영향을 미치고 있습니다. 유병률이 낮고, 치료 옵션이 제한적이며, 미충족 수요가 높기 때문에 이들 질환은 의료계의 큰 도전이 되고 있습니다. 시장 성장을 주도하는 것은 유전자 연구의 발전으로 유전자 치료 및 정밀의료와 같은 첨단 치료법 개발이 가능해졌습니다. 미국의 희귀의약품법(Orphan Drug Act)과 같은 규제적 혜택과 전 세계에서 유사한 규제 프레임워크가 이 분야에 대한 제약사들의 투자를 촉진하고 있습니다. 또한 환자 옹호 단체와 헬스케어 단체를 통해 희귀질환에 대한 인식이 높아지면서 희귀질환이 우선순위에 올라가고, 자금 조달과 기술 혁신에 박차를 가하고 있습니다. 이러한 요인들이 결합되어 치료법 발전을 지원하는 환경을 조성하고 희귀질환 환자들의 예후를 개선하고 있습니다.
| 시장 개요 |
| 예측 기간 |
2026-2030 |
| 시장 규모 : 2024년 |
1,210억 5,000만 달러 |
| 시장 규모 : 2030년 |
2,196억 6,000만 달러 |
| CAGR : 2025-2030년 |
10.40% |
| 급성장 부문 |
혈액 질환 |
| 최대 시장 |
북미 |
시장 성장 촉진요인
희귀질환 환자 증가
주요 시장 이슈
정확한 진단
주요 시장 동향
제품 혁신의 성장
목차
제1장 개요
제2장 조사 방법
제3장 개요
제4장 고객의 소리
제5장 희귀질환 치료제 시장 전망
- 시장 규모·예측
- 시장 점유율·예측
- 치료 영역별(혈액 질환, 암, 감염증, 심혈관질환, 대사성 질환, 내분비 질환, 근골격계 질환, 기타)
- 투여 경로별(주사제, 경구제, 기타)
- 약제 유형별(생물제제, 바이오시밀러, 저분자)
- 유통 채널별(전문 약국, 병원 약국, 온라인 약국)
- 지역별
- 기업별(2024)
- 시장 맵
제6장 북미의 희귀질환 치료제 시장 전망
- 시장 규모·예측
- 시장 점유율·예측
- 북미 : 국가별 분석
제7장 유럽의 희귀질환 치료제 시장 전망
- 시장 규모·예측
- 시장 점유율·예측
- 유럽 : 국가별 분석
제8장 아시아태평양의 희귀질환 치료제 시장 전망
- 시장 규모·예측
- 시장 점유율·예측
- 아시아태평양 : 국가별 분석
제9장 남미의 희귀질환 치료제 시장 전망
- 시장 규모·예측
- 시장 점유율·예측
- 남미 : 국가별 분석
제10장 중동 및 아프리카의 희귀질환 치료제 시장 전망
- 시장 규모·예측
- 시장 점유율·예측
- 중동 및 아프리카 : 국가별 분석
제11장 시장 역학
제12장 시장 동향과 발전
제13장 세계의 희귀질환 치료제 시장 : SWOT 분석
제14장 경쟁 구도
- 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
제15장 전략적 제안
제16장 조사회사 소개·면책사항
KSA
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.
| Market Overview |
|---|
| Forecast Period | 2026-2030 |
| Market Size 2024 | USD 121.05 Billion |
| Market Size 2030 | USD 219.66 Billion |
| CAGR 2025-2030 | 10.40% |
| Fastest Growing Segment | Hematologic diseases |
| Largest Market | North America |
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:
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
- 5.2. 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
- 6.2. 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
- 6.3.1.2. 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
- 6.3.2.2. 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
- 6.3.3.2. 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
- 7.2. 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
- 7.3.1.2. 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
- 7.3.2.2. 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
- 7.3.3.2. 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
- 7.3.4.2. 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
- 7.3.5.2. 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
- 8.2. 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
- 8.3.1.2. 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
- 8.3.2.2. 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
- 8.3.3.2. 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
- 8.3.4.2. 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
- 8.3.5.2. 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
- 9.2. 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
- 9.3.1.2. 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
- 9.3.2.2. 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
- 9.3.3.2. 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
- 10.2. 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
- 10.3.1.2. 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
- 10.3.2.2. 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
- 10.3.3.2. 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
