Rare Disease Pharmaceutical Service Market Report 2025

The rare disease pharmaceutical service market size has grown rapidly in recent years. It will grow from $117.7 billion in 2024 to $133.4 billion in 2025 at a compound annual growth rate (CAGR) of 13.3%. The expansion observed during the historic period was driven by heightened emphasis on genetic research, wider adoption of advanced diagnostic tools, the increasing establishment of patient registries, growing partnerships between pharmaceutical and biotechnology companies, and greater awareness of incentives for orphan drugs.

The rare disease pharmaceutical service market size is expected to see rapid growth in the next few years. It will grow to $217.37 billion in 2029 at a compound annual growth rate (CAGR) of 13%. The growth in the forecast period result from the growing application of artificial intelligence in drug discovery, increased demand for personalized treatment approaches, higher investment in rare disease clinical trials, more frequent use of real-world evidence in decision-making, and stronger regulatory support for therapies targeting rare diseases. Key trends in the forecast period include AI-driven drug discovery innovations, adoption of digital health platforms, technology-assisted patient monitoring, development of biomarker-based therapies, and progress in decentralized clinical trials.

The growth of personalized medicine is set to accelerate the expansion of the rare disease pharmaceutical service market. This medical approach customizes treatments based on a patient's genetic profile, lifestyle, and environmental factors, allowing for more precise and effective care. Advances in genomics, biomarker research, and data analytics enable treatments to be tailored specifically to an individual’s genetic makeup, improving treatment outcomes, minimizing side effects, and addressing previously unmet medical needs with greater accuracy than traditional therapies. Pharmaceutical services contribute to this trend by developing targeted therapies, using genetic and biomarker data, and offering tailored solutions for individual patients. For example, in February 2024, the Personalized Medicine Coalition, a US-based non-profit, reported that in 2023, the FDA approved 16 new personalized treatments for rare disease patients, a significant rise from just 6 approvals in 2022. This surge in personalized medicine is driving the growth of the rare disease pharmaceutical service market.

Companies in the rare disease pharmaceutical service market are increasingly focused on developing innovative treatment options, such as acetylleucine-based therapies, to improve the effectiveness of treatments, enhance patient outcomes, and address gaps in the management of rare neurological and metabolic disorders. Acetylleucine, a modified amino acid (N-acetyl-L-leucine), serves as a therapeutic agent to improve motor function, balance, and overall neurological health in affected patients. For example, in September 2024, IntraBio, a US-based biopharmaceutical company, received FDA approval for AQNEURSA, the first standalone treatment for Niemann-Pick Disease Type C, a rare and life-threatening neurodegenerative disorder. This approval is significant, as AQNEURSA showed rapid and meaningful improvements in neurological symptoms, offering a groundbreaking therapeutic option for both pediatric and adult patients with this condition.

In March 2024, AstraZeneca, a UK-based pharmaceutical company, acquired Amolyt Pharma for an undisclosed sum. The goal of this acquisition is to bolster AstraZeneca’s late-stage rare disease pipeline, particularly within its Alexion division, by incorporating novel therapies for rare endocrine disorders. Amolyt Pharma, a clinical-stage biotechnology company based in France, specializes in developing peptide-based treatments for rare endocrine diseases.

Major players in the rare disease pharmaceutical service market are Johnson & Johnson, Merck & Co. Inc., Pfizer Inc., AbbVie Inc., Sanofi S.A., Novartis AG, AstraZeneca PLC, GlaxoSmithKline PLC (GSK), Takeda Pharmaceutical Company Limited, Amgen Inc., Biogen Inc., Chiesi Farmaceutici S.p.A., Recordati Industria Chimica e Farmaceutica S.p.A., BioMarin Pharmaceutical Inc., Sarepta Therapeutics Inc., Ultragenyx Pharmaceutical Inc., Amicus Therapeutics Inc., Travere Therapeutics Inc., Sciensus Healthcare Ltd., and SOM Innovation Biotech S.L.

North America was the largest region in the rare disease pharmaceutical service market in 2024. The regions covered in rare disease pharmaceutical service report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa. The countries covered in the rare disease pharmaceutical service 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 pharmaceutical companies contend with tariffs on APIs, glass vials, and lab equipment inputs with few alternative sources. Generic drug makers, operating on razor-thin margins, are especially vulnerable, with some reducing production of low-profit medicines. Biotech firms face delays in clinical trials due to tariff-related shortages of specialized reagents. In response, the industry is expanding API production in India and Europe, increasing inventory stockpiles, and pushing for trade exemptions for essential medicines.

Rare disease pharmaceutical services involve specialized efforts to research, develop, and deliver medications for illnesses affecting a very small number of patients. They aim to meet unmet medical needs through new treatments, regulatory guidance, and support for patient care. These services help ensure that patients with rare conditions have access to necessary therapies, can afford them, and maintain consistent treatment.

Key categories of rare disease pharmaceutical services include drug discovery and clinical trials. Drug discovery involves systematically identifying, refining, and testing potential therapeutic compounds. These services are applied in areas such as genetic disorders, cancers, and endocrine conditions. Organizations that utilize these services include pharmaceutical and biotechnology companies, academic and research institutions, hospitals and specialty clinics, contract research and development organizations, as well as diagnostic and genetic testing laboratories.

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

The rare disease pharmaceutical service market consists of revenues earned by entities by providing services such as clinical trial management, patient recruitment, regulatory compliance, market access, and safety monitoring. 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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