In the U.S., rare diseases are defined as conditions that affect fewer than 200,000 people.1 However, collectively, rare diseases are more common than their name suggests. About 30 million Americans, that’s nearly one in 10 people,2 currently live with a rare disease, and you might be surprised to know nearly 7,000 rare diseases are recognized today.3 However, of the known rare diseases, approximately 95 percent have no treatment.3
At Harmony Biosciences (Harmony) (Nasdaq: HRMY), we’re dedicated to focusing on rare diseases and developing and delivering novel treatment options for those with unaddressed medical needs. Our initial focus on narcolepsy, which affects about 165,000 Americans,4 is one example. The disease, characterized as a chronic sleep disorder, includes symptoms like excessive daytime sleepiness and sudden attacks of sleep. This is much more than being “tired.” Unaddressed, narcolepsy profoundly affects a person’s daily functioning and social well-being and can have significant impacts on chronic comorbidities such as diabetes, obesity, and cardiovascular disease.5
Challenges in applying empathy through innovation to rare disease research
At Harmony Biosciences, our goal is as much about delivering, innovative therapies that improve the health of people living with rare neurological diseases as it is about listening to them, infusing their lives with hope, dignity, and the confidence that comes from knowing they are no longer overlooked. In fact, they are at the heart of everything we do. However, many challenges face the pharmaceutical industry in applying this patient-centric approach to treating rare diseases. The first is the lack of knowledge about the diseases,6 leading to a lack of available or accessible diagnostic tests, treatment options and/or misdiagnoses. One-quarter of people with a rare disease wait more than four years for an accurate diagnosis.7 In 2019, 17 percent of individuals living with rare diseases permanently relocated their home or considered doing so to access proper medical care8 — highlighting the lengths people go for the care needed to lead fulfilling lives.
It is important to consider this intersection of empathy and innovation and the challenges we face in the rare disease community. For example, in certain instances, it can be difficult to enroll and retain large enough cohorts of rare disease patients for valid clinical trials. Once a trial is underway, capturing significant patient data can be complicated by co-existing conditions and diversity in the diseases’ clinical presentation.9 For example, Harmony is currently conducting clinical trials in patients with Prader-Willi syndrome and myotonic dystrophy to evaluate symptoms these disease states may have in common. These patient-focused clinical development programs at Harmony ensure we listen to patients closely to understand their often-overlooked symptoms for diagnosis and treatment options.
With exciting disease modifying therapies on the horizon, it will also be critical to continue to treat those patients for whom the disease has already progressed, leaving chronic symptoms that affect quality of life. Our industry and regulators have significant opportunities to apply a patient-centric model to meet patients where their needs truly are.
Creating a dialogue with patients
At Harmony Biosciences, we believe that where empathy and innovation meet, a better life begins for people living with rare neurological diseases. That’s because both empathy and innovation are integral to the life-improving treatments we develop. They are also integral to a better future for patients and their communities, for healthcare providers, and for all of us. By listening to patients, researchers can use insights to help inform clinical designs, even before clinical trials start. The initial stages of research and development (R&D) should keep patient needs at the forefront, listening and reporting back to patients about how their input is informing innovation.
Collaborating with peers to create a better tomorrow for patients
Beyond working with people living with rare diseases, the pharmaceutical industry can also work on behalf of patients. Harmony joined the Rare Disease Company Coalition (RDCC) as a founding member to inform and educate policymakers on the unique circumstances facing life science companies when developing and bringing to market therapies for very small and differentiated patient populations. Industry associations, like RDCC, can also increase education and progress awareness for people living with rare diseases by expanding available programming and resources — especially important for these often-overlooked populations. RDCC is just one example, and as awareness around rare diseases increases, coalitions like these will be critical to advocate for people who have unaddressed medical needs.
Applying empathy through innovation to business development
Ultimately, any pharmaceutical business development roadmap for rare disease should focus on how to best support patients. The development strategy that Harmony has employed is an example of this. We evaluate the potential of a single treatment option across different disease states to address common symptoms between them. We also believe it is important to seek out strategic partnerships that strengthen the potential for novel therapies grounded in innovation, which can unlock new treatment options, and better outcomes for patients.
As the pharmaceutical industry model and mindset evolves, our mandate as an industry is to solve for the needs of today while addressing the needs of tomorrow, helping people lead healthier, more fulfilling lives. For Harmony, this means working at the intersection of empathy and innovation, developing and delivering solutions that infuse patients with hope for a better life now and in the future. The world is farther in the fight than we’ve ever been, and Harmony is dedicated to accomplishing this work through keeping patients at the heart of all we do.
1U.S. Department of Health and Human Services. (n.d.). FAQs about rare diseases. Genetic and Rare Diseases Information Center. Retrieved February 4, 2022, from https://bit.ly/35U4c05.
2NORD – National Organization for Rare Disorders. (2018, June 14). NORD involvement page. Retrieved February 4, 2022, from https://bit.ly/3grqKHr.
3NORD – National Organization for Rare Disorders. (2019). Rare disease day: Frequently asked questions. Retrieved February 4, 2022, from https://bit.ly/3sgv167.
4Narcolepsy Fact Sheet. NIH Publication No. 17-1637. https://bit.ly/3sfvN36.
5Jennum, P., Ibsen, R., Knudsen, S., & Kjellberg, J. (2013). Comorbidity and Mortality of Narcolepsy: A Controlled Retro- and Prospective National Study. Sleep, 36(6), 835–840. https://bit.ly/32WLALx.
6Stoller, J. K. (2018). The challenge of rare diseases. Chest, 153(6), 1309–1314. https://bit.ly/3GtAbRh.
7Science.org. (2021, April 15). The poor diagnosis of rare diseases: Overcoming deficits in information, awareness, and understanding. Retrieved February 4, 2022, from https://bit.ly/3IUynCq.
8NORD Rare Insights. (2020, November 19). Barriers to rare disease diagnosis: Care and treatment in the U.S. Retrieved February 4, 2022, from https://bit.ly/3rrDuUJ.
9United States Government Accountability Office. (2021, October). Rare diseases: Although limited, available evidence suggests medical and other costs can be substantial. https://bit.ly/3HsDglZ.
US-HAR-2200010 February 2022