Rare Disease Treatment Market Outlook:
The rare disease treatment market size was USD 232.2 billion in 2024 and is estimated to reach USD 792.8 billion by the end of 2037, expanding at a CAGR of 10.35% during the forecast period, i.e., 2025-2037. In 2025, the industry size of rare disease treatment is estimated at USD 243.1 billion.
The global rare disease treatment market is characterized by a limited yet diverse pool of patients, with more than 300 million people worldwide affected by one of 8000 known rare diseases, as reported by the Genetic and Rare Diseases Information Center. In key markets such as the United States, Japan, and the EU, the patient pool for rare disorders is quite small, but the cumulative patient pool continues to grow due to improving diagnostic capacity. In terms of economic indicators, the U.S. Bureau of Labor Statistics (BLS) states that the Producer Price Index (PPI) for rare disease drugs increased by 1% from November 2023 to November 2024, while the Consumer Price Index (CPI) for medical care commodities, including prescription drugs for rare diseases, rose by 2.5% in the same timeframe.
Rare Disease Treatment Market - Growth Drivers and Challenges
Growth Drivers
-
Growing prevalence of rare diseases across the globe: Rare diseases are estimated to affect a population of around 300-400 million, equating to 4.2% of the overall population. Among these 10,000 distinct conditions identified, around 80% of which are genetic. This rising prevalence has resulted in an increasing need for specialized treatment and diagnostics. For instance, the rare cancers such as thymic carcinoma and hepatoblastoma are rising, boosting the need for targeted therapies.
Prevalence Categories
|
Prevalence (per 10,000) |
Estimated Diseases |
|
Ultra-rare (<0.1/10,000) |
~75% of all rare diseases |
|
0.1–1/10,000 |
~20% |
|
1–5/10,000 |
<5% |
Regional Figures
|
Region |
Estimated Cases |
|
United States |
25-30 million |
|
Europe |
Around 28 million |
|
Asia Pacific |
Around 200 million |
|
Latin America |
40-50 million |
|
Middle East and Africa |
million |
- Rising investments in R&D activities and robust pipeline: Public and private sectors across the globe are heavily investing in rare disease research. The U.S. NIH, for instance, allocates USD 3.8 billion annually for rare disease and drug research every year. Along with this, major pharmaceutical giants such as Novartis, Roche, and Pfizer, and biotech firms like Amicus Therapeutics and Sarepta Therapeutics are focused on prioritizing rare diseases for profit margins and regulatory incentives. For instance, Fizer and the Novartis Institutes for BioMedical Research were key industry partners in the National Center for Advancing Translational Sciences (NCATS) and FDA’s Bespoke Gene Therapy Consortium (BGTC) launched in October 2023.
Historical Patient Growth and Market Impact (2010-2020)
The rare disease treatment market has witnessed rapid growth in recent times due to improved diagnostics and rising awareness about early treatment and diagnosis. In the U.S, approximately 28 million people were affected by rare diseases in 2020, while countries like Germany and France saw a 12-14% increase in diagnosed cases due to coordinated research and patient registries. In addition, unmet needs, technological advancements, and regulatory incentives are expected to create opportunities for manufacturers to capture market share through target therapies and strategic partnerships.
Historical Patient Growth Data (2010-2020)
|
Country |
Patient Pool (2010) |
Patient Pool (2020) |
Growth (%) |
|
USA |
25.4 million |
30.4 million |
20% |
|
Germany |
3.5 million |
3.9 million |
14.3% |
|
France |
3 million |
3.5 million |
13.3% |
|
Spain |
2.5 million |
2.6 million |
12.1% |
|
Australia |
1.5 million |
1.8 million |
12.5% |
|
Japan |
3.5 million |
4.2 million |
18.5% |
|
India |
48 million |
58 million |
10.2% |
|
China |
10 million |
12 million |
20% |
Scaling Feasibility Models for Rare Disease Treatment
The rare disease treatment market is poised for growth through innovative revenue feasibility models, attributed to partnerships, biosimilars, and regulatory incentives. Biosimilar development in Europe, particularly Germany, has reduced ERT costs by 15%, capturing 8.1% market share, while in Asia Pacific, China market is projected to register 15% CAGR in the coming years. Moreover, strategic alliances and cost-effective therapies are likely to drive sustainable revenue growth, addressing unmet needs for 95% of untreated rare diseases.
Feasibility Models by Country (2022–2024)
|
Country |
Strategy Model |
Revenue Growth |
|
India |
Partnership with local providers; shared-cost pilot schemes |
+12.5% |
|
USA |
Infusion center integration; SNP-focused contracts |
+9.2% |
|
Germany |
Collaborative reimbursement pilots with G-BA; registry-linked outcomes |
+8.1% |
|
France |
Joint registry funding; hospital-centered treatment networks |
+7% |
|
Japan |
National scheme via MHLW registry + therapy subsidy |
+10.2% |
|
Australia |
PBS-listed therapy corridors; rural access programs |
+11% |
|
China |
CRO alliance for local trials; provincial reimbursement |
+15% |
Leading Companies: Strategic Alignment with Market Drivers
|
Company |
Strategy |
|
Alexion (AstraZeneca) |
Expanded infusion sites via Medicare SNPs in 2023; +10% volume |
|
Biogen |
2024 partnership with German centers; uptake +20% for rare biologics |
|
UniQure |
Launch of Japan gene therapy under MHLW registry framework; +10% revenue |
|
Bluebird Bio |
Australia PBS pilot with rural access; +11% uptake in FY2023 |
|
Takeda |
India CRO trial network via DCGI registration rules (2024); initial +12% revenue |
|
Roche |
China provincial reimbursement deals + CRO local trials; +15% rare therapy uptake |
|
Sanofi |
France registry co-funding via G-BA; +7% hospital uptake |
Challenges
-
Limited infrastructure and access in several economies: Several economies face market access barriers for rare disease treatment due to inadequate healthcare infrastructure, regulatory complexities, and limited diagnostic capabilities. For instance, in China, around 1,400 rare diseases are diagnosed despite an estimated 12 million patient base, reflecting a diagnostic gap.
-
High pricing pressures from payers: Some payers are likely to impose strict pricing controls owing to high therapy costs, which limit overall coverage. For instance, in 2023, only 24% of the costs of orphan drugs were covered by Medicaid, and patients had to face high out-of-pocket expenses. This restricted access to more than 30 million patients in the U.S., especially for low-income families who relied on Medicaid.
Rare Disease Treatment Market Size and Forecast:
| Report Attribute | Details |
|---|---|
|
Base Year |
2024 |
|
Forecast Year |
2025-2037 |
|
CAGR |
10.35% |
|
Base Year Market Size (2024) |
USD 232.2 billion |
|
Forecast Year Market Size (2037) |
USD 792.8 billion |
|
Regional Scope |
|
Rare Disease Treatment Market Segmentation:
Drug Type Segment Analysis
The biologics segment is expected to account for 62.2% during the forecast period, attributed primarily to the U.S. FDA’s Accelerating Rare Disease Cures (ARC) program, launched in 2022. The rare disease drug development has been significantly streamlined through this program by offering regulatory guidance, expedited clinical tools, and lower review times, and more than 50% of novel drug approvals were for rare diseases in 2023. In addition to this, supportive frameworks such as tax credits, priority review, and orphan drug designations, and robust investments in biologics for rare diseases are expected to fuel segment growth in the coming years.
Diseases Segment Analysis
The hematologic disorder segment is likely to hold a revenue share of 45.3% between 2025 and 2037, owing to the high prevalence of hematologic disorders such as sickle cell, hemophilia, or paroxysmal nocturnal hemoglobinuria, gene and cell therapy breakouts, and rising investments in developing novel drugs and treatments. Moreover, growing awareness about early diagnosis and treatment among individuals and a high focus on fueling capital funding and strategic growth are projected to support segment growth going ahead.
|
Metric |
Value |
|
U.S. Sickle Cell Disease Prevalence |
100,000 |
|
U.S. Hemophilia Prevalence |
20,000 |
|
Medicare Spending on Hematologic Treatments (2023) |
$2.1B (+15% from 2021) |
|
FDA Orphan Drug Approvals (Hematology, 2022) |
12 |
|
Global Gene Therapy Spending (2022) |
$356B (+15.7%) |
|
Patient Advocacy Impact (2020-2022) |
+15.2% uptake |
Our in-depth analysis of the rare disease treatment market includes the following segments:
|
Segment |
Subsegment |
|
Drug Type |
|
|
Diseases |
|
|
Patient |
|
|
Route of Administration |
|
|
Distribution Channel |
|
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Rare Disease Treatment Market - Regional Analysis
North America Market Insights
North America is expected to dominate the global market with a share of 47.2% during the forecast period, driven by high prevalence of rare diseases, presence of leading companies, and supportive government policies. The rising patient pool in the U.S. and Canada is necessitates specialized treatments and advanced diagnostic tools, thereby fueling the market expansion in the region. In addition, the presence of a robust healthcare infrastructure in North America, along with a skilled workforce, helps in providing better and efficient treatment.
The U.S. rare disease treatment market was valued at around USD 111 billion in 2024, owing to large patient base and rapid advancements in biologics and gene therapies. In addition, timely product approvals, for instance, CRISPR-based therapies like Casgevy for sickle cell disease approved in 2023, support market growth. Along with this, the growing awareness of early diagnosis among individuals and improved genetic testing and sequencing techniques are expected to fuel market growth going ahead.
Approximately 1 in 12 individuals in Canada is affected by a rare disease annually, resulting in a need for effective treatment alternatives. The market is expected to expand rapid pace, primarily due to the launch of the National Strategy for Drugs for Rare Diseases, launched in March 2023. This initiative is backed by up to CAD 1.4 billion between 2023 and 2026. Several organizations in this country, including CIHR, NRC, and Genome Canada, are actively funding gene therapy, clinical trials, and diagnostics for rare diseases. In addition, rising awareness about diagnosis and treatment and improving healthcare infrastructure are expected to fuel market growth in Canada during the study period.
Europe Market Insights
The rare disease market in Europe is likely to account for significant growth between 2025 and 2037 owing to well-structured reimbursement frameworks and regulatory incentives. The European Union has a high prevalence of rare diseases, with more than 28 million patients. To cater to this issue, the European Rare Diseases Research Alliance (ERDERA) funded with around €380 million, announced the launch of 9 new projects on gene therapies for rare diseases in December 2024.
In Germany, the market is expected to lead owing to robust healthcare infrastructure to cater to rising number of patients with rare disease conditions. The country has advanced healthcare system with specialized centers, including the 38 Centers for Rare Diseases and networks like ACHSE that supports early diagnosis, treatment and patient care. Moreover, with rising focus on developing advanced drugs and next-generation biologics, the market is expected to expand at a rapid pace in the coming years.
The market in France is expected to register a rapid CAGR of 7.2% during the forecast period, driven by HAS and solidarity‑budget allocation and efforts to strengthen the existing healthcare facilities for rare disease treatment and diagnosis. Moreover, increasing investments in gene and cell therapies by public and private sectors is expected to reshape the rare disease treatment pipelines in the country and attract global investors.
Country-Specific Insights
|
Country |
Metric |
Value |
|
United Kingdom |
% Healthcare Budget Allocated (2023) |
8% |
|
Germany |
R&D Registry Reimbursement (2023 Pilot Budgets) |
€150M |
|
France |
% Healthcare Budget (2023) |
7% |
|
France |
Rare Disease Centre Funding (2022–2024) |
€200M |
Asia Pacific Market Insights
Asia Pacific market is expected to register a rapid CAGR of 11.56% during the stipulated timeframe. This growth can be attributed to high focus on expanding the rare disease care capacity and rising public and private healthcare investments in China, India, Vietnam, and Indonesia. Moreover, high focus on streamlining clinical trial approvals and regulatory pathways and growing awareness of early treatment and diagnosis are expected to drive APAC market in the coming years.
The Japan market is likely to expand at a 7.2% CAGR between 2025 and 2037 due to the presence of a robust healthcare budget for rare disease treatment. In 2024, the Ministry of Health, Labor and Welfare of Japan (MHLW) allocated around 11.8% of its national healthcare budget to rare disorder treatment. Other factors, such as rising prevalence of rare diseases and rapid expansion of orphan biologic developments, are expected to fuel market growth in the country.
In China, the market is expected to register robust growth during the forecast period due to the rising number of rare disease cases and presence of well-defined healthcare infrastructure and budget. For instance, government spending for rare disease treatment increased to 14% in 2023, reflecting a higher enrollment in insurance catalogs and expanded pilot reimbursement.
Country-Specific Insights
|
Country |
2037 Revenue Share |
Key Insights |
|
China |
7.5% |
90+ orphan drugs included in insurance; more than 20M patients diagnosed; 65% avg. cost cut |
|
Japan |
6% |
11% of the healthcare budget to rare diseases in 2024; ¥150B increase since 2022 |
|
India |
4% |
$1.7B annual gov. spending in 2023; 2.4M patients in national registry |
|
South Korea |
3% |
Reimburses ~35 orphan drugs; 25% coverage growth since 2020 |
|
Malaysia |
~1.5% (est.) |
Patient demand doubled (2013–2023); gov. funding ↑ 20% |
Key Rare Disease Treatment Market Players:
- Company Overview
- Business Strategy
- Key Product Offerings
- Financial Performance
- Key Performance Indicators
- Risk Analysis
- Recent Development
- Regional Presence
- SWOT Analysis
The global rare disease treatment market is highly consolidated, with several biopharmaceutical giants like Pfizer, Roche, Takeda, and Sanofi controlling more than 60% of the market share. These companies are focused on leveraging orphan drug designations, gene and cell therapy innovations, and strategic M&As in order to dominate niche indications. Many key players from Asia Pacific are entering the market via biosimilar pathways and public-private partnerships. Here is a list of key players operating in the global rare disease treatment market:
|
Company Name |
Country |
Revenue Share |
|
Roche Holding AG |
Switzerland |
10.3% |
|
Pfizer Inc |
USA |
9.2% |
|
Sanofi S.A. |
France |
9% |
|
Novartis AG |
Switzerland |
8.2% |
|
Takeda Pharmaceutical Co. |
Japan |
7.9% |
|
Amgen Inc. |
USA |
xx% |
|
Biogen Inc. |
USA |
xx% |
|
Alexion |
USA |
xx% |
|
Vertex Pharmaceuticals |
USA |
xx% |
|
Regeneron Pharmaceuticals |
USA |
xx% |
|
CSL Behring |
Australia |
xx% |
|
Sarepta Therapeutics |
USA |
xx% |
|
UCB S.A. |
Belgium |
xx% |
|
Ipsen |
France |
xx% |
|
Chugai Pharmaceutical |
Japan |
xx% |
|
Kyowa Kirin |
Japan |
xx% |
|
Dr. Reddy’s Laboratories |
India |
xx% |
|
Samsung Biologics |
South Korea |
xx% |
Below are the areas covered for each company in the global market:
Recent Developments
- In June 2025, CSL Behring received FDA approval for Andembry, the first prophylactic treatment targeting Factor XIIa for hereditary angioedema (HAE), offering once-monthly dosing for patients aged 12 and above. Its novel mechanism, supported by rigorous clinical trials, positions it as a transformative option in the competitive market.
- In March 2025, MyOme announced the launch of a rare disease diagnostic product, MyOme Rare Gene Panel, at the ACMG Annual Meeting. This kit is a whole-genome sequencing-based diagnostic tool that aims to shorten the diagnosis time for rare diseases. It utilizes blood or buccal swab samples and includes reflex testing to enhance diagnostic accuracy.
Author Credits: Radhika Pawar
- Report ID: 6667
- Published Date: Jun 26, 2025
- Report Format: PDF, PPT
