The Golden Age of Treating Rare Disease Patients Is Now
The COVID-19 pandemic has brought the question of life and death to ordinary people who have rarely had to think about it before. The ability of biotechnology to provide two potent vaccines also reminds us of how much our new technology can change the way we view disease and the power of a new treatment. For rare disease patients before any pandemic, life and death or disability was a daily concern, and only the latest advances in science are now providing new options that can change their lives. The great advances in treatment technology have now opened the door to first-ever treatments for hundreds of rare diseases that affect up to 10% of the U.S. population. We are living in the golden age of treating rare disease patients.
Over the last 20 years, we have answered the call for some of America’s most vulnerable and are now able to address a growing number of unmet needs of patients with rare diseases that previously were untreatable. Since implementation of the Orphan Drug Act (ODA) in 1983, there have been almost 950 FDA approvals for rare disease treatments, with over 25% of those approvals occurring in the last three years. As new leadership takes over to lead and make decisions that will guide future biotechnology innovation, we simply cannot lose the gains that have been made and revert back to just hoping for treatments while patients die. In fact, the very first thing that should be done on rare diseases is to support and enhance existing rare disease policy because it is working.
Rare diseases historically and sadly have attracted minimal attention, while these patients anxiously await relief. In fact, although rare diseases affect more people than AIDS and cancer combined, 95% of rare diseases do not have an FDA-approved treatment. For decades, and often with barely any financial backing, the medical community has faced severe challenges in researching and understanding these diseases, let alone curing them. Prior to enactment of the ODA, only 10 therapies were available to treat rare diseases.
Rare disease policy like the ODA and the 21st Century Cures bill have helped change the future for rare disease patients. We have seen wondrous developments for rare disease patients and their loved ones in recent years, thanks to the steadfast commitment of the world’s top scientists and policy changes that have been made to incentivize innovation. The innovation encouraged by the ODA has allowed the rare disease research community to capture the urgency, creativity, and adaptability needed for the development of rare disease.
It took decades after the passage of the ODA to see meaningful results for rare disease patients. We must preserve this innovation.
This is an incredible moment to celebrate the success of innovation. But we must remain steadfast in our search for forward-thinking policies and we also must assure that patients get access to these therapies. From drug pricing policies, to modernization of the FDA, to state-level newborn screening policies and funding, the incentive for innovation must continue and that innovation must be made accessible to those who need it.
Policymakers must always consider the human face of the policies they debate. While elected officials gather to discuss changes to drug policy and pricing, American families that are impacted by rare disease are gathered in their homes hoping, praying, and striving to have more good days than bad. For rare diseases, there was not much incentive prior to implementation of the ODA to develop treatments. Policymakers need to think carefully about how well-meaning policies related to overall health care spending could inadvertently damage the ability to fund development of new therapeutics.
Policymakers must remember to protect patients without harming innovation. The greater rare disease community ─ patients, families, researchers, and investors ─ are eager to extend this golden age of rare disease research and innovation.
Rare disease patients and their families will be best served by strengthening and expanding the incentives that have produced the extraordinary results of the last 20 years. Policy proposals that unknowingly lump ultra-rare disease biotech firms in with major market drug manufacturers are destructive to the fragile, early-stage, biotech development for many rare and ultra-rare diseases.
We’re optimistic that policymakers and elected officials will continue to be allies and join us in protecting the pursuit of treatments that enable patients to live happier, healthier lives.
Dr. Emil Kakkis is the President, CEO and Founder of Ultragenyx Pharmaceutical. He received his combined M.D. and Ph.D. degrees from UCLA and is trained as a Medical Geneticist. He has spent the last 23 years in biotechnology developing multiple approved treatments for rare diseases. He was awarded the Henri Termeer Biotechnology Visionary Award by the Biotechnology Innovation Organization (BIO) in 2019. Dr. Kakkis also founded the EveryLife Foundation for Rare Diseases and currently serves on EveryLife’s Board of Directors.
