An Emerging Market for Rare Disease Therapy

Authored by Cameron Meyer, Economics and Biology & Society '26

As society progresses socially, politically, and technologically, there has been an increasing drive to ensure advancement is equitable and meets the needs of underserved populations. However, one population that has historically been overlooked is the population with rare diseases. Although a majority of the population does not suffer from these conditions, around 9% of Americans do suffer from at least one of the 7,000 rare diseases that we know of today. So when nearly 30 million Americans and almost 400 million people worldwide live with a rare disease, why do only 5% of these conditions have an approved treatment [3][4]?

A combination of factors contribute to the difficulty of the healthcare space to find solutions to these diseases. These factors include extremely complex biology, lack of understanding of the natural history of many of these diseases, and the small sample sizes of patients that make it difficult to conduct large-scale and accurate clinical trials [3]. Another challenge is that pharmaceutical corporations find it costly to work on rare disease therapy when sales opportunities are seldom and chances of FDA approval are slim. However, despite these challenges, the market for rare disease therapeutics has been growing. The global rare diseases treatment market size was valued at 119.6 billion dollars in 2021 and is expected to expand at a compound annual growth rate of 12.8% from 2022 to 2030 [5]. The market is growing rapidly because of the increasing presence of rare diseases, government support for new drug discovery, and the fact that blockbuster drug developments are more likely in rare disorders than in traditional pharmaceutical portfolios [6].

Pharmaceutical companies both small and large are taking advantage of these trends. Asklepion Pharmaceuticals, based in Baltimore, is developing therapies for rare pediatric diseases that don’t currently have treatments on the market. They are developing drugs and devices for everything from genetic disorders to pediatric bypass surgery [7]. Large companies like Pfizer are also rapidly developing in this space in an effort to grasp a strong market share before the space gets crowded. Pfizer’s Rare Disease department focuses on four therapeutic areas: rare hematology, rare endocrine/metabolic, rare neurology, and rare cardiology [4]. Pfizer has recently been successful in early stages of their approval process for Elranatamab, an investigational antibody for the treatment of patients with cancer of their plasma cells that returns after treatment or doesn’t respond to treatment, a disease called relapsed or refractory multiple myeloma (RRMM). Elranatamab was also recently granted Orphan Drug Designation and Fast Track Designation for the treatment of patients with RRMM [8]. These two grants are forms of government support for rare disease projects.

To incentivize development in the rare disease therapy market, the government has stepped in with support systems. The Orphan Drug Act is a law passed by Congress in 1983 that qualifies sponsors for various incentives, including tax credits for qualified clinical testing, waiver of the Prescription Drug User Fee which costs nearly three million dollars, and up to seven years of market exclusivity after approval. Another support system is the Fast Track Designation process, facilitating the expedited development and review of novel drugs that aim to treat serious conditions and demonstrate the potential to address unmet medical needs [3]. Through implementation of both of these programs, companies can ensure that they receive proper support through the research and development process with resources unavailable for traditional drugs.

The rare disease market is rapidly evolving despite the deep challenges that corporations face when developing therapies that target these illnesses. With the help of the government and public sentiment, corporations, now more than ever, are exploring new ways of developing drugs to help alleviate overlooked populations that have no therapeutic options for their respective disease.

References

1. Han, Q., Fu, H., Chu, X., Wen, R., Zhang, M., You, T., Fu, P., Qin, J., & Cui, T. (2022, September 5). Research advances in treatment methods and drug development for rare diseases. Frontiers. Retrieved March 22, 2023, from https://www.frontiersin.org/articles/10.3389/fphar.2022.971541/full

2. Ascher, J., M’lika, A., Graf, J., & Prabhakaran, M. (2016, November). Successful launches in rare diseases. McKinsey.com. Retrieved March 2023, from https://www.mckinsey.com/~/media/McKinsey/Industries/Pharmaceuticals%20and%20Medical%20Products/Our%20Insights/How%20to%20successfully%20launch%20a%20rare%20disease%20drug%20in%20a%20patient%20centric%20world/Successful-launches-in-rare-diseases-vFinal.pdf

3. Commissioner, O. of the. (2022, December 13). Rare diseases at FDA. U.S. Food and Drug Administration. Retrieved March 22, 2023, from https://www.fda.gov/patients/rare-diseases-fda

4. Rare disease: Pioneering breakthroughs. Pfizer. (2023). Retrieved March 22, 2023, from https://www.pfizer.com/science/focus-areas/rare-disease

5. Rare diseases treatment market size, share report, 2030. Rare Diseases Treatment Market Size, Share Report, 2030. (n.d.). Retrieved March 22, 2023, from https://www.grandviewresearch.com/industry-analysis/rare-diseases-treatment-market-report#:~:text=The%20global%20rare%20diseases%20treatment,12.8%25%20from%202022%20to%202030.

6. ReportLinker. (2022, September 29). The global rare diseases treatment market size is expected to reach $255.4 billion by 2028, rising at a market growth of 12.5% CAGR during the forecast period. GlobeNewswire News Room. Retrieved March 22, 2023, from https://www.globenewswire.com/news-release/2022/09/29/2525389/0/en/The-Global-Rare-Diseases-Treatment-Market-size-is-expected-to-reach-255-4-billion-by-2028-rising-at-a-market-growth-of-12-5-CAGR-during-the-forecast-period.html

7. Five biotechs poised to advance their rare disease programs. BioBuzz. (2022, February 23). Retrieved March 22, 2023, from https://biobuzz.io/five-biotechs-poised-to-advance-their-rare-disease-programs-in-2020/

8. Pfizer’s Elranatamab Receives FDA and EMA Filing Acceptance. Pfizer. (2022, February 22). Retrieved March 22, 2023, from https://www.pfizer.com/news/press-release/press-release-detail/pfizers-elranatamab-receives-fda-and-ema-filing-acceptance