Rare Diseases, Pharma’s Perennial Hitmaker

February 29th is the rarest day of the year, and this was in fact the reason why Rare Disease Day was established on this day 16 years ago by the European Organisation for Rare Diseases, commemorating the 25th anniversary of the U.S. Orphan Drug Act.

Rare Disease Day raises awareness for the hundreds of million people living with a rare disease and facing healthcare inequity. And as Deallus celebrates its 20th anniversary, we can proudly reflect upon the 100+ rare diseases that we have had the privilege and honor of supporting through clinical development, commercialization, patient/caregiver support, market access, and beyond to contribute to therapeutic and healthcare advancements.

While partnering with small and large pharma organisations, we have observed first hand that rare disease drug development is not just a passing ‘one hit wonder’, a la the blockbuster drug development era, but is rather evolving into pharma’s perennial hitmaker.

With roughly 10,000 rare diseases recognized by the NIH’s Genetic and Rare Diseases (GARD) Information Center, only about 5% of those have approved medicines. Rare disease drug development is inherently complex and challenging, which is why so many policies and incentives (e.g., Orphan Drug Act, Priority Review Vouchers, Orphan Drug Designation, PRIME Designation, Regenerative Medicine Advanced Therapy Designation) have been implemented to encourage innovation for these historically overlooked patient populations.

As a result, there has been a measurable difference over the past two decades, such as thousands of Orphan Drug Designations with near-exponential growth and a steady increase in drug approvals. And in recent years, rare disease drugs have consistently represented 50-60% of new FDA approvals annually. These successes in rare disease drug development triggers a self-perpetuation of innovation spurred by competition seeking to grow the pie and have a slice too. Since this is true of most therapeutic areas, it is expected for these individual disease areas to become saturated.

While market saturation typically pushes the industry to move on to new therapeutic areas, given the sheer vastness of the rare diseases therapeutic area, this era should be here to stay for generations to come and outlast bouts of saturation. The past couple of decades have been marked by an ever-increasing rise in rare disease companies being founded, rare disease franchises being established, and rare disease acquisition/licensing deals completed. A few notable examples from recent years include:

  • Amgen’s establishment of a new Rare Disease corporate pillar, following the acquisitions of Horizon and ChemoCentryx
  • AstraZeneca’s establishment of a new Rare Disease business unit, following the of acquisition of Alexion
  • Gilead’s acquisition of CymaBay
  • Sanofi’s acquisition of InhibRx, Bioverativ, and Ablynx
  • Biogen’s acquisition of Reata
  • Novartis’s acquisition of Chinook
  • Pfizer’s acquisition of Global Blood Therapeutics

As rare disease commitments rise across the industry, these patient communities are benefiting from increased drug options, increased focus on supporting the patient/caregiver journey, increased intent on improving access, and increased investment in diagnostic technologies. And as advancements take place in genetic testing & precision medicine, gene therapy & gene editing, telemedicine & remote monitoring, artificial intelligence & data analytics, and patient advocacy & disease awareness, we look forward to how the rare disease space will further evolve and make a dent in the remaining 95% of untreated rare diseases.

And for the future ahead, Deallus is unwaveringly committed to supporting rare disease drug development with our global clinical and commercial expertise, in hopes of seeing rare diseases maintained as an industry-wide common focus.


Author – Hormoz Moaven

Hormoz Moaven Deallus Senior Principal

Senior Principal, Los Angeles

Neal Somchand Deallus Principal, Tokyo

Principal, Tokyo