By Sara Tompkins / For The Herald
The development of drugs for rare diseases has always been a complex and challenging endeavor. As much as 95 percent of rare disease patients still don’t have an FDA approved treatment available.
As a rare disease patient, I know the struggle of going through years of medical care to receive a diagnosis, and the following heartbreak of hearing that there is no cure for Ehlers-Danlos syndrome, an group of genetic disorders that affect connective tissues, include skin, joints and blood vessel walls.
The drug development and clinical trial process for rare disease drug development is fraught with roadblocks. Relatively small patient populations and high costs associated with research and development make it difficult for scientists to complete the lengthy drug development journey. Over time, Congress has legislated specific incentives to protect and encourage new medical discovery for rare disease treatments. Unfortunately, recent changes to Medicare reimbursement methodology contained in the recently passed Inflation Reduction Act (IRA) threaten to unravel the fragile tapestry of investment incentives that propel new medical innovation for rare disease patients. The consequences of these changes, including a decline in orphan drug development and potential increase for out-of-pocket cost burdens on patients, could be disastrous for rare disease patients like me.
Orphan drugs, as defined by the Orphan Drug Act of 1983, are medications specifically developed to treat rare diseases, which affect fewer than 200,000 patients across the United States. Therapeutic development for these drugs is challenging because innovators can’t recoup their research costs based solely on how many patients might ultimately access the medication.
Nonetheless, it is essential to provide hope and relief to individuals suffering from these conditions. One of the critical support systems for orphan drug research in the past has been the availability of reasonable drug reimbursement through Medicare, which provides a safety net for developers to recoup their costs. In this ecosystem, both rare disease patients and researchers benefit from a financially protected drug development pipeline that prioritizes innovation and results in more accurate patient care.
Recent changes in Medicare reimbursement methodology, as outlined in the IRA, are raising concerns among rare disease advocates. The National Organization for Rare Disorders sent a letter to the Centers for Medicare and Medicaid Services in April that highlighted how changes in Medicare could impact the future of rare disease research by disincentivizing companies that work to identify medications that treat more than one rare disease indication. With so many rare disease patients still waiting for a cure, we can’t afford to lose any potential therapeutic options; even those that were first approved for more common diseases!
Another concern is that that IRA’s health care reforms focus on reducing Medicare spending without considering other barriers many patients face in accessing their medication at the pharmacy counter. After IRA reforms go into effect, rare disease patients could still be shifted to higher out-of-pocket cost formulary tiers by insurers seeking to minimize their own fiscal liability in the face of lower reimbursement caps. This means that even if orphan drugs continue to be developed, patients could face substantially higher out-of-pocket costs, putting life-saving medications further out of reach.
One of the most alarming outcomes resulting from these policy changes is the potential reduction in the number of medications brought to market over the next decade. Given the challenging nature of rare disease drug development, disruptions to the existing drug development pipeline can have far-reaching consequences. Recent estimates suggest that there could be hundreds fewer medications developed over the next 10 years because of the IRA’s changes. This projection paints a grim picture for patients with rare diseases, who are already dealing with the burden of living with conditions that have few, if any, treatment options.
The potential loss of innovative therapies represents a significant setback for the rare disease community and raises serious questions about the accessibility of health care for these individuals.
It is crucial for policymakers to carefully consider the implications of these changes and work together to ensure that rare disease patients continue to have access to innovative treatments. Earlier this week, the House Committee on Energy and Commerce held an oversight hearing on IRA implementation, the first step in a long process of sharing patient experiences with policymakers. Congress must continue to balance their budget reduction prerogatives with policies that provide hope and potential therapeutic responses for rare disease patients and their families.
Sarah Tompkins is a Northwest Rare Disease Coalition board member, an Eastside EDS board member and patient advocate.
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