Rare Disease Clinical Trials Market Report 2025

The rare disease clinical trials market size has grown rapidly in recent years. It will grow from $12.06 billion in 2024 to $13.3 billion in 2025 at a compound annual growth rate (CAGR) of 10.3%. The growth observed during the historic period can be linked to increasing awareness of genetic disorders among healthcare providers, higher demand for specialized patient monitoring during trials, growing development of personalized medicine approaches, wider adoption of patient-centric trial methodologies, and rising need for global multi-center clinical studies.

The rare disease clinical trials market size is expected to see rapid growth in the next few years. It will grow to $19.45 billion in 2029 at a compound annual growth rate (CAGR) of 10%. The growth projected for the forecast period can be attributed to a rise in the number of rare disease therapies entering clinical trials, greater regulatory support for orphan drug approvals, expansion of disease-specific patient registries and databases, increasing cross-border clinical trials and multi-center studies, and enhanced funding initiatives for rare disease research infrastructure. Key trends during the forecast period include expanded use of decentralized trial models, innovations in patient recruitment strategies, integration of real-world evidence into trial designs, development of precision medicine approaches, and broader adoption of digital health technologies.

The growth of the rare disease clinical trials market is expected to be driven by the rise of personalized medicine. This approach involves tailoring medical treatments to the individual characteristics of each patient, including their genetics, lifestyle, and environment. Personalized medicine is gaining momentum due to its ability to improve treatment outcomes by offering therapies designed to be more effective and safer for each patient. Rare disease clinical trials play a vital role in advancing this field by providing insights that guide the creation of targeted therapies based on a patient's unique genetic and molecular profile. For example, the Personalized Medicine Coalition (PMC) reported that personalized medicines accounted for 34% of FDA approvals in 2022 and rose to 38% in 2023. As a result, the increased adoption of personalized medicine is driving the growth of clinical trials for rare diseases.

Leading companies in the rare disease clinical trials market are emphasizing innovation by adopting a client-centric model, which focuses on meeting the specific needs and preferences of biotech and pharmaceutical clients. This approach allows for the development of personalized clinical trial solutions, improving patient engagement and accelerating the creation of therapies for rare conditions. A notable example is Evestia Clinical Limited, which was introduced as the new brand identity for EMAS Pharma in March 2025. This rebranding signals the company's strategic shift towards global expansion and its commitment to advancing therapies for rare diseases. Evestia Clinical is focused on offering personalized clinical trial solutions that address the unique challenges of rare conditions, making this a core aspect of its service offering and brand identity.

In July 2024, AstraZeneca, a UK-based pharmaceutical company, acquired Amolyt Pharma, a French company specializing in rare endocrine disease therapies. The acquisition, the financial details of which were not disclosed, expands AstraZeneca’s portfolio in rare disease treatments and supports its commitment to addressing unmet medical needs. Amolyt Pharma focuses on the development of therapies for rare endocrine disorders and the management of related clinical trials.

Major players in the rare disease clinical trials market are F. Hoffmann-La Roche AG, Pfizer Inc., Novartis AG, AstraZeneca plc, Takeda Pharmaceutical Company Limited, IQVIA Holdings Inc., Laboratory Corporation of America Holdings, ICON plc, Moderna Inc., Charles River Laboratories International Inc., Parexel International Corporation, Revvity Inc., Sarepta Therapeutics Inc., TFS HealthScience, Inventiva S.A., Tonix Pharmaceuticals Holding Corp., SpringWorks Therapeutics Inc., OrphAI Therapeutics Inc., BBCR Consulting LLC, and Credevo Inc.

North America was the largest region in the rare disease clinical trials market in 2024. The regions covered in rare disease clinical trials report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa. The countries covered in the rare disease clinical trials market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Note that the outlook for this market is being affected by rapid changes in trade relations and tariffs globally. The report will be updated prior to delivery to reflect the latest status, including revised forecasts and quantified impact analysis. The report’s Recommendations and Conclusions sections will be updated to give strategies for entities dealing with the fast-moving international environment.

The sudden escalation of U.S. tariffs and the consequent trade frictions in spring 2025 are severely impacting the healthcare sector, particularly in the supply of critical medical devices, diagnostic equipment, and pharmaceuticals. Hospitals and healthcare providers are facing higher costs for imported surgical instruments, imaging equipment, and consumables such as syringes and catheters, many of which have limited domestic alternatives. These increased costs are straining healthcare budgets, leading some providers to delay equipment upgrades or pass on expenses to patients. Additionally, tariffs on raw materials and components are disrupting the production of essential drugs and devices, causing supply chain bottlenecks. In response, the industry is diversifying sourcing strategies, boosting local manufacturing where possible, and advocating for tariff exemptions on life-saving medical products.

Rare disease clinical trials are carefully structured medical studies aimed at assessing the safety, efficacy, and potential treatments for rare or orphan diseases that affect a small number of patients. These trials are designed to generate essential clinical evidence to support regulatory approval and enhance patient outcomes. They often face unique challenges, including limited patient availability, specialized trial protocols, and higher costs compared to trials for more common conditions.

The primary phases of rare disease clinical trials include phase I, phase II, phase III, and phase IV. Phase I trials are early-stage studies that evaluate safety, dosage, and preliminary efficacy of investigational therapies in patients with rare diseases. Therapeutic areas covered include oncology, cardiovascular disorders, neurological disorders, infectious diseases, genetic disorders, autoimmune and inflammatory conditions, hematologic disorders, musculoskeletal disorders, and others. Study designs include interventional, observational, and expanded access trials, serving end users such as pharmaceutical companies, biotechnology firms, research institutions, and other stakeholders.

The rare disease clinical trials market research report is one of a series of new reports that provides rare disease clinical trials market statistics, including the rare disease clinical trials industry global market size, regional shares, competitors with the rare disease clinical trials market share, detailed rare disease clinical trials market segments, market trends, and opportunities, and any further data you may need to thrive in the rare disease clinical trials industry. This rare disease clinical trials market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenarios of the industry.

The rare disease clinical trials market includes revenues earned by entities through clinical trial design and protocol development, pharmacovigilance and safety services, and laboratory and biomarker services. The market value includes the value of related goods sold by the service provider or included within the service offering. Only goods and services traded between entities or sold to end consumers are included.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

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