Sarah Jones: Congress must fix a law that's discouraging rare disease research

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 -- and yes, it took me a while to learn the full name and wrap my mind around the fact that it would forever change my life.

Fortunately, my disease was in early stages of organ damage. But like many rare-disease patients for whom treatment options are lacking, I had to get used to the hit-or-miss efforts dedicated doctors make to find medications -- all but one not even researched for my disease -- that help.

Unlike 95% of rare diseases, EGPA does have an FDA-approved treatment, sold under the brand name Nucala. It's not a cure, and it's not right for all patients, but for many, it helps arrest the permanent lung damage. And it illustrates 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.

New medications often end up with approvals for several different diseases -- all of which require additional testing. The ODA applies not just to new drugs, but also to testing approved drugs for additional uses to fight rare diseases. This is often the only way to address rare disease treatment affordably.

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. With roughly two in a million people affected by EGPA each year, it simply is not affordable to fund a drug for EGPA unless the drug also treats additional diseases.

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, when for medical reasons, small molecules can be just as important in treating rare and other diseases. Of my dozens of medications to manage my systemic disease, only three are biologics.

Congress must pass corrective legislation. One bill, a total of 1 ½ 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.