Developing and Commercializing Rare Disease Drugs: Navigating Uncharted Territory

Pharmaceutical companies developing and commercializing rare disease drugs face unique challenges. However, clinical and medical groups using a data-driven approach can help address these challenges and support healthcare providers (HCPs) in their effort to treat patients with rare diseases.

A Quick Overview

Rare diseases are generally defined by disease prevalence. In the U.S., any disease affecting fewer than 200,000—or roughly 1 in 1,650—people is considered rare, in the EU the number is 1 in 2,000.

Taken together, rare diseases are not rare at all, according to the Pharmaceutical Research and Manufacturers of America (PhRMA) 1 in 10 Americans is affected with one of the more than 7,000 rare diseases, 95% of which have no approved treatment creating tremendous unmet medical needs.1

Meanwhile, orphan diseases include non-rare diseases and are defined differently in the U.S. and EU. In the U.S., orphan diseases are defined by the criteria that “there is no reasonable expectation that the cost of developing and making available in the United States a drug for such disease or condition will [be] recovered from sales in the United States of such drug.”2 And in the EU, orphan diseases include neglected, mainly tropical diseases that “are not a public health priority in the industrialized countries” and therefore “little research and drug development is performed for these diseases. They are ‘neglected’ by the pharmaceutical industry because the market is usually seen as unprofitable.”3

To better address these unmet medical needs both the EU and U.S. created incentives to encourage rare and orphan disease drug research and development. These incentives have led to a dramatic increase in rare/orphan disease drugs: since 2000 more than 2,300 medicines have received orphan designation in the EU and approximately 190 orphan medicines were authorized by the EMA.4 The U.S. has seen a large increase in orphan drug approvals since the passage of the Orphan Drug Act of 1983. Since then, drugs and biologics for more than 900 rare disease indications have been developed and approved.5

Development and Commercialization Challenges

Research, development, and commercialization of rare disease drugs face a whole set of unique challenges, specifically:

  • Complex biology: More than 80% of rare diseases are caused by inherited or randomly occurring mutations. Within a particular rare disease, variations can result in different clinical manifestations and disease progressions. The complex nature makes these drugs difficult to develop and requires drug makers to support HCPs with in-depth scientific information.
  • High percentage of pediatric patients: More than 50% of the cases affect children and many are severe as 30% of the patients die before the age of five. Since there are so few cases and the natural histories of the diseases are poorly understood, diagnosis is challenging. The average time to diagnosis is almost five years and the typical patient sees more than seven physicians before they receive the final diagnosis.6,7
  • Challenging clinical trials: The combination of very few, geographically dispersed and often pediatric patients proves challenging for clinical trials. Patient identification and enrollment pose a significant hurdle. In addition, standard trial designs are often not suitable and need to be adjusted to make sure that, despite the limited number of patients, relevant safety and efficacy data are obtained. Furthermore, rare disease trials are often international, which means that multiple regulatory agencies are involved adding time and cost. The Tufts Center for the Study of Drug Development found that on average orphan drugs take 15.1 years from first patent filing to product launch, 2.3 years longer than the average drug.8
  • Commercialization in unchartered territory: Rare disease drugs are often first of a kind and therefore companies have limited scientific background, no real-world data, and no experience with patients or best practices to rely on. But lack of experience is not limited to companies, the entire healthcare ecosystem lacks experience in how to care for rare disease patients.

In this challenging environment, medical affairs groups are critical for success.

Ensuring Success of Rare Disease Drugs

Medical affairs groups, using a data-driven approach, can mitigate the challenges associated with rare disease drug commercialization and support their cross-functional colleagues, HCPs, and patients to ensure a successful launch.

  • KOL and HCP mapping: For any given rare diseases, only a small number of HCPs is likely to have any experience treating patients. Identifying all relevant HCPs as well as thought-leaders and especially up-and-coming “rising stars” based on their academic, clinical, or treating experience enables a successful launch. Given the unique challenges, preparing for launch—including KOL engagement—needs to start at least a half year earlier than the typical 6-12 months.9
  • Ongoing KOL and HCP engagement: This is particularly important in rare diseases as companies need to continuously support and educate HCPs about the diseases and keep them updated on new developments.
  • Collecting insights and real-world data: Bidirectional flow of information is critical in rare diseases. With little prior data and experience to draw on, any insights or real-world data the treating community can share with field medical can be used to inform the medical strategy and help better inform and educate other HCPs.
  • Identifying patients: Rare and geographically dispersed patients are difficult to identify making clinical trial enrollment extremely challenging. Claims databases can be used by medical and/or clinical groups within pharmaceutical companies to support principal investigators and their teams with identifying these otherwise hard to find patients.
  • Educating all stakeholders: Given the unique needs of the small number of patients, engaging HCPs is not enough. Instead, organizations must support and educate the entire stakeholder community including patients, caregivers, payers, patient advocates, and potentially policy makers. Supporting patients with critical tasks such as navigating the healthcare system, can become an important part of a company’s rare disease community engagement efforts.
  • Coordinate engagement: With such small HCP communities, there is a risk of uncoordinated communication. Tight collaboration between the medical, clinical, and commercial teams is required to avoid redundancies and KOL communication overload. A centralized system to track all interactions can help coordinate communication and avoid overburdening HCPs while making sure all information is captured and disseminated.

Developing and launching a rare disease drug is truly entering uncharted territory. Strong relationships with HCPs, KOLs, and the broader stakeholder community is even more important than for “regular” drugs.







6. Evans WR. Dare to think rare: diagnostic delay and rare diseases. Br J Gen Pract. 2018;68(670):224-225. doi: 10.3399/bjgp18X695957.




  • Stacey Rivkin

    Stacey Rivkin is Vice President of Client Solutions at H1. She leads a team of subject matter experts who drive client insight generation. Stacey partners with leaders in pharma and biotech to help them build and maintain collaborative, mutually beneficial relationships with key global external experts and other stakeholders through optimized identification, profiling, and integrated strategic engagement.


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