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Rare disease drug development has made significant progress in the last decade. In 2019 alone, the U.S. Food and Drug Administration (FDA) approved 21 novel medicines to treat rare diseases.

This number is consistent with a trend of increased FDA medicine approvals for rare disease therapies, also known as “orphan” medicines. From 2012 to 2019, the FDA approved over twice as many novel orphan medicines than it did from 2004 to 2011 – 142 compared to 63, a staggering 125 percent increase. For patients living with rare diseases, many of which are debilitating or life-threatening, an increase in approved therapies brings hope for a better quality of life.

Yet even with such remarkable progress, there are still thousands of existing and emerging rare diseases with no available treatment option.

What are Rare Diseases?
To give more context to this group of diseases, in the United states a rare disease is defined as an illness or condition affecting fewer than 200,000 people. Rare diseases range from inherited metabolic disorders to cancers. While they are individually rare, rare diseases are not rare collectively. Today, there are 30 million Americans living with at least one of the over 7,000 rare diseases.

With 95 percent of rare diseases still lacking an FDA approved treatment, it will take a collaborative effort of many stakeholders including scientists, clinicians, regulatory agencies and especially patients to make continued advancements for those living with rare diseases.


Redefining our Approach to Rare Disease Drug Development

I recently joined patient advocates, researchers and the 1776 Startup Network for a discussion about Redefining Innovation in Rare Disease Drug Development at the Pennovation Center in Philadelphia. Panelists addressed the complexity of rare diseases, patient needs and the challenges of medicine development. In covering a range of topics, the conversation always came back to collaboration.

Patients are pushing all of us toward a partnership approach. As my co-panelist Jennifer Farmer, Executive Director of Friedreich’s Ataxia Research Alliance said during the discussion, the challenges associated with rare disease medicine development mean that we have to work smarter and more collaboratively.

When it comes to medicine development for rare diseases, patient populations for each of the 7,000 rare diseases are so small that there is often insufficient patient data, resulting in limited understanding of a respective disease. Due to such small patient populations, it is often difficult to enroll patients into clinical trials. These challenges are compounded by the fact that the development of any new medicine can take more than a decade.

At Horizon Therapeutics, we approach research and development with the belief that collaboration is crucial as no single organization or company has all the answers. We are all working in the pursuit of one goal: to improve patient lives. Each of us – patients, advocacy organizations, the biopharmaceutical industry and government regulators – has a role to play in advancing innovation. We also make sure that patients remain at the center of all collaborative efforts.


The Value of the Patient Perspective in Advancing Innovation 

Patients’ own experiences living with a rare disease are just as important as scientific expertise, as they contribute to a more thorough, holistic understanding of these diseases.

Stephanie Fischer, a member of the Pennsylvania Rare Disease Advisory Council, also reminded us that the rare disease patient community is innately collaborative – regularly sharing resources across disease groups and coming together to advocate for policies that support innovation and drug development.

Scientific and medical communities stand to benefit from similar collaborative efforts when it comes to rare disease medicine development. These collaborations among various stakeholders including academic centers, federal agencies, industry, advocacy groups, patients and their families can advance science with the goal of improving patients’ lives with novel, effective and safe therapies. Partnerships will also allow us to mine and learn from available databases of molecular and clinical data – ultimately enhancing our ability to bring treatments to patients faster.

During the panel, there were great ideas exchanged on ways to redefine our approach to rare disease drug development. Imagine the progress we could achieve for patients with consistent, deliberate collaboration.


Saba Sile, M.D. is an executive director of clinical development at Horizon Therapeutics, a biopharmaceutical company focused on researching, developing and commercializing medicines that address critical unmet needs for people impacted by rare and rheumatic diseases. Prior to Horizon, Saba worked at both large and small companies, focusing on rare disease spanning from nephrology, metabolic disorders to cardiac diseases.

Saba Sile, MD

Executive Director of Clinical Development, Horizon Therapeutics