Thirty million Americans live with a rare disease, with half diagnosed being children. Despite the serious challenges facing this particularly vulnerable patient group, 95 percent of rare diseases — of which there are more than 10,000 — still lack an FDA-approved treatment. There is a clear and pressing need to accelerate investment in and the production of innovative treatments and cures for rare disease patients.
Congress, the Department of Health and Human Services, the Food and Drug Administration and the National Institutes of Health must advance policies that will provide hope to Americans living with rare diseases. This means supporting the development of new medicines, streamlining the review of promising drug candidates, and ending discriminatory policies that devalue patients.
First, lawmakers must reauthorize the FDA Rare Pediatric Disease Priority Review Voucher program. The PRV program, enacted in 2012, has been instrumental in incentivizing drug development for rare pediatric diseases. Over the past decade, the program has led to the development of 50-plus treatments for 39 rare pediatric diseases, many of which are typically fatal before a child reaches adulthood. This has been a game-changer. Before the program, only three of these 39 rare diseases had any FDA-approved treatments.
Sadly, Congress failed to reauthorize this program in December, allowing it to expire and dealing a devastating blow to pediatric patients and families. Unfortunately, the reauthorization was not included in the continuing resolution in March either. How many life-saving drugs would we miss out on if the program is permanently killed? Lawmakers must immediately reauthorize the PRV program to ensure continued progress in drug development for rare diseases and help deliver on the promise to “Make America Healthy Again.”
Second, policymakers must ban the use of a deeply flawed metric known as the “Quality Adjusted Life Year” (QALY), which devalues a patient’s life to a fraction if diagnosed with a disease. The QALY calculates the treatment’s value by the patient’s estimated morbidity and mortality, and informs payers’ decisions about covering FDA-approved rare diseases drugs or therapies. While Medicare fortunately bans it, this metric is often used by Medicaid and the Department of Veterans Affairs to justify not paying for specific treatments for rare disease patients and patients with disabilities.
At its core, the QALY unfairly discriminates against patients with rare diseases by valuing their quality of life as less than that of a “healthy” person and classifying them as not worthy enough to justify the cost of treatment. Rare disease patients are not second-class citizens; they are mothers, fathers, neighbors and children — and all deserve a chance at life. Lawmakers should end these discriminatory tools in federal health programs and help bolster access to life-saving treatments for patients.
Finally, lawmakers should protect and build upon efforts to accelerate approval for new treatments. This will require strategic reforms and reorganization at the FDA, including at the agency’s newly formed Rare Disease Innovation Hub, announced last year. The Rare Disease Innovation Hub is an important step forward, promising to help expedite the development and approval of safe, effective treatments for various diseases. However, the Hub lacks the budget, personnel, oversight and bold vision necessary to perform its critical function.
In particular, the Hub needs one clearly defined director with the authority to make decisions about rare disease drug applications, similar to other FDA divisions like the Oncology Center of Excellence. This will streamline the review process, increase transparency and ensure consistency at a time when arbitrary and confusing guidance is often the norm. The administration should strengthen oversight and the decision-making ability of the Rare Disease Innovation Hub, putting patients’ needs front and center.
By working together to address these key priorities, officials can reduce barriers to care for rare disease patients while accelerating the development of innovative treatments and cures to treat an array of rare diseases.
Given the many lives at stake, there is no time to waste.