Rare Diseases Treatment Market Report 2025

The rare diseases treatment market size has grown rapidly in recent years. It will grow from $190.11 billion in 2024 to $215.2 billion in 2025 at a compound annual growth rate (CAGR) of 13.2%. The growth in the historic period can be attributed to orphan drug legislation, increased disease awareness, biotechnological innovations, global health initiatives, rise in personalized medicine.

The rare diseases treatment market size is expected to see rapid growth in the next few years. It will grow to $351.22 billion in 2029 at a compound annual growth rate (CAGR) of 13%. The growth in the forecast period can be attributed to emergence of innovative therapeutic modalities, evolving healthcare reimbursement policies, artificial intelligence and data analytics, expansion of patient registries, regulatory support for expedited approvals. Major trends in the forecast period include gene therapy breakthroughs, cross-sector collaboration, telemedicine and remote care, emerging therapeutic modalities, patient advocacy and empowerment.

The rare disease treatment market is witnessing substantial growth due to the escalating burden posed by these conditions. Unlike more prevalent diseases, rare diseases affect a significantly smaller population. This surge in rare disease incidences and related fatalities is fostering a pressing need for effective treatments. As evidenced by a report from the Orphanet Journal of Rare Diseases, the United States alone accounted for about 15.5 million children with at least one rare disease. Such escalating prevalence is a key driving force behind the advancement of the rare disease treatment market.

Anticipated growth in the rare disease treatment market stems from an increasing demand for personalized medicine. This approach tailors medical interventions based on an individual's unique genetic composition, offering more precise and efficient healthcare solutions. In the realm of rare disease treatment, personalized medicine utilizes genetic, molecular, and clinical profiles to customize interventions, leading to more targeted therapeutic approaches. In 2022, the Food and Drug Administration’s Center for Drug Evaluation and Research (CDER) approved 37 new molecular entities (NMEs), with 34% - 12 of them - classified as personalized medicines by the Personalized Medicine Coalition (PMC). This surge in demand underscores the pivotal role personalized medicine plays in propelling the rare disease treatment market forward.

Technological advancements are a major trend in the rare disease treatment market. Leading companies in this sector are increasingly integrating artificial intelligence (AI) to enhance treatment options and maintain their competitive edge. For example, in September 2024, researchers from the Kempner Institute, a US-based research facility, launched TxGNN, an AI model specifically designed to identify treatments for rare diseases by repurposing existing drugs. This model combines extensive biomedical data with advanced AI techniques to recognize patterns and rapidly propose new treatment options. By accelerating drug discovery, TxGNN presents a cost-effective alternative to traditional methods. Its nickname, "AI Dr. House," underscores its diagnostic capabilities and potential influence on rare disease treatment.

Companies operating within the rare disease treatment sphere are intensifying their focus on launching rare disease initiatives to gain competitive advantages. These initiatives encompass coordinated efforts undertaken by various stakeholders - governments, research institutions, and pharmaceutical companies - to address the distinct challenges associated with rare diseases. Notably, in October 2023, the Oxford-Harrington Rare Disease Centre in the UK initiated the Therapeutics Accelerator - a transatlantic endeavor aimed at advancing innovative treatments for rare diseases. With a vision to introduce 40 potentially transformative therapies into clinical trials over the next decade, this non-profit/for-profit model-driven Accelerator plans to allocate funding of up to £200 million. The objective is to support new projects targeting regulatory approvals in key markets such as the United States, the United Kingdom, and Europe.

In October 2023, Amgen Inc., a US-based biotechnology firm, completed its acquisition of Horizon Therapeutics for $27.8 billion. This strategic move aims to incorporate Horizon's approved therapies, including Tepezza and Krystexxa, into Amgen's product portfolio, thereby strengthening its ability to tackle serious health conditions. Horizon Therapeutics, headquartered in Ireland, specializes in developing medications for rare autoimmune and severe inflammatory diseases.

Major companies operating in the rare diseases treatment market are AbbVie Inc., Actelion Pharmaceuticals Ltd, Alexion Pharmaceuticals Inc., Celgene Corporation, Bayer AG, Johnson & Johnson, Novartis AG, Pfizer Inc, Sanofi S.A., Eisai Co. Ltd., Merck & Co. Inc., Vertex Pharmaceuticals, Takeda Pharmaceutical Company, Eli Lilly and Company, AstraZeneca PLC, Abeona Therapeutics Inc., Akcea Therapeutics Inc., Alnylam Pharmaceuticals Inc., Amicus Therapeutics Inc., BioMarin Pharmaceutical Inc., bluebird bio Inc., Catalyst Pharmaceuticals Inc., Cerecor Inc., Chiesi Farmaceutici S.p.A., CSL Behring Ltd., Dicerna Pharmaceuticals Inc., Diplomat Pharmacy Inc., Esperion Therapeutics Inc., Genzyme Corporation, Horizon Therapeutics plc., Intercept Pharmaceuticals Inc., Ionis Pharmaceuticals Inc.

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

Rare diseases affect a small fraction of the population and often have high mortality rates due to limited research and treatment options available. Treatments for these diseases primarily target genetic and metabolic disorders.

Rare disease treatments encompass two main categories of drugs such as originator drugs (patented molecules) and generic drugs, falling under biologics and organic compounds. Originator drugs are tailored for rare diseases lacking prior treatment options. As the initial versions of a drug patented by the originating company, these treatments tend to be relatively expensive. These treatments for rare diseases are administered through various modes including injectable, oral, and other means. They find applications across diverse medical areas such as cancer, neurological conditions, cardiovascular issues, musculoskeletal disorders, hematologic conditions, infectious diseases, metabolic and endocrine disorders, among other therapeutic fields. The distribution channels for these treatments involve hospital pharmacies, specialty pharmacies, and retail pharmacies, ensuring accessibility to patients in need.

The rare disease treatment market research report is one of a series of new reports that provides rare disease treatment market statistics, including rare disease treatment industry global market size, regional shares, competitors with a rare disease treatment market share, detailed rare disease treatment market segments, market trends and opportunities, and any further data you may need to thrive in the rare disease treatment industry. This rare disease treatment 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 treatment market includes revenues earned by entities by hematology, genetic diseases, neurological diseases and oncology. 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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