Guest Column by Sarah Jones

Congress Must Fix a Law That’s Discouraging Rare Disease Research

For those of us diagnosed with a rare disease, the Orphan Drug Act of 1982 has been a lighthouse of hope for a perilous journey. The ODA recognized the lethal reality of research into treatments for people like me. Without treatment, 80 percent of people with my disease would be dead within five to eight years.

Fast forward to 2022 on Capitol Hill, where lawmakers were hastily working out the final details of the Inflation Reduction Act. During these efforts, lawmakers introduced two major disincentives for research into treatments for rare diseases. The health and lives of many rare disease patients are now riding on Congress recognizing and fixing these errors.

I received my personal bad news about four years ago, when my wife and I got back from a bucket list trip to Molokai feeling just awful. After an extensive and brutal yearlong diagnostic process consisting of 57 doctor, ER, and hospital visits, the result was in: a rare autoimmune disorder that causes inflammation of blood vessels. It’s known as EGPA, or eosinophilic granulomatosis with polyangiitis.

Unlike 95 percent of rare diseases, EGPA does have two FDA-approved treatments, sold under the brand names Nucala and Fasenra. They are not a cure, and it’s not right for all patients, but for many, they help arrest the permanent lung damage. And they illustrate how a drug developed for one group of patients can turn out to help others as well.

Nucala was first approved as a treatment for severe asthma in 2015 and for EGPA in 2017. Its developer then received an orphan drug designation for research into it as a treatment for HES, or hypereosinophilic syndrome. In 2020, it received approval as the first and only biologic treatment for HES.

Nucala is hardly unique in providing an example of how a single drug turns into multiple patient treatments. Just last week, Fasenra was approved for EGPA. The drug has been used for severe asthma since 2017 and received orphan drug designation in 2018. New medications often end up with approvals for several different diseases—all of which require additional testing.

Unfortunately, that’s where the IRA problems arise. The law allows Medicare officials to designate and negotiate lower prices for an annually expanding list of medications.

But lawmakers made two mistakes. First, though they wisely granted orphan drugs an exemption, they mistakenly restricted it to those that treat a single rare disease. If an orphan drug is approved for another rare disease, it loses its exempt status. 

Second, they created arbitrary exemption periods for two different drug classes. “Small molecule” drugs face a penalty compared to “biologics,” which enjoy four extra years of exemption. This tips research in favor of biologics. Of my dozens of medications to manage my systemic disease, only three are biologics.

Our policy should be to promote maximum patient benefit from every new drug.

That means Congress must pass corrective legislation. One bill, a total of 1-1/2 pages long—the ORPHAN Cures Act—would modify the IRA by striking the language that limits the orphan drug exemption to medications for a single disease. Another, the EPIC act, would eliminate the small molecule penalty by implementing an exemption period to equal that for biologics.

Some 30 million Americans with rare diseases are waiting not only for medications that don’t yet exist, but also for tests that show existing medications can also help them. Lawmakers need to get small molecule and orphan drug research back on track. For many of us, it can be a matter of life and death.

Sarah Jones lives with a rare disease, eosinophilic granulomatosis with polyangiitis. She has more than 25 years of experience leading non-profits and healthcare programs. This op-ed column originally ran in the “Arizona Daily Star.”