Watch: A conversation with Dr. Mike Ybarra on Rare Disease Day

In honor of Rare Disease Day, I recently had the chance to sit down with PhRMA’s Chief Medical Officer, Dr. Mike Ybarra, to discuss the state of rare disease drug development and shed light on some misconceptions surrounding these diseases. Rare diseases may affect fewer than 200,000 patients in the U.S. individually, but collectively, they impact a significant portion of the population despite their "rare" label. In fact, there are 30 million Americans and 400 million people worldwide that live with one of the 7,000 known rare diseases.

2023 marked an important year for advancing new medicines for rare diseases with the approvals by the U.S. Food and Drug Administration. For example, two cell-based gene therapies, one of which utilizes a Nobel prize winning CRISPR gene editing technology, were approved for patients suffering from sickle cell disease along with a new treatment for patients with amyotrophic lateral sclerosis. These advances are offering a new-found hope for patients.

But at the same time, the Inflation Reduction Act’s (IRA) price setting provisions risk hindering the development of treatments for rare diseases, which already face lower probabilities of success than non-rare diseases due to the complexities of these conditions and the unique challenges associated with developing medicines for small treatment populations. Though the IRA exempts certain orphan drugs from price setting, the exemption is far too narrow. As a result, the Iaw discourages research and development occurring after a medicine is initially approved, which has proven critical for driving treatment advances for patients with rare diseases. 

Last year was an incredible year for advancing medicines for patients with rare diseases. Policymakers should make sure patients, like those battling a rare disease, aren’t left behind, putting future medical innovation at risk.

To learn more, visit PhRMA.org/RareDiseases