Later this month, Americans will observe Rare Disease Day. The annual event aims to raise awareness for the millions of people who live with a rare disease. It's an opportunity to reflect on the progress we've made against these heartbreaking conditions, and the work we still have to do.
For me, the day has a different, more personal meaning.
Twenty-seven years ago, my family's life changed. First, our 15-month-old daughter was diagnosed with a rare and often fatal muscle disorder. Weeks later, our one-month-old son received the same diagnosis. We were shocked to learn that most babies with this form of the disease died before the age of two. The doctor told us he couldn't save them.
I refused to accept that answer. So I quit my job and co-founded a company to develop an effective treatment. We succeeded: In 2006, the Food and Drug Administration approved Myozyme to treat the disease. It has helped save the lives of thousands of children -- including our two youngest. And today, there are even more advanced therapies and treatment options for patients like my kids.
Through our work, we learned of the gaping need for rare-disease treatments. More than 8,000 of these conditions exist, most of which are unknown to the public. While each rare disease affects fewer than 200,000 Americans, collectively, they afflict between 25 and 30 million. About 95% of rare illnesses have no treatment.
We need to be doing everything we can to bring more treatment options to market. Unfortunately, recent policy developments in Washington are creating headwinds for the brilliant researchers who are working around the clock to do just that.
Developing drugs for common conditions is already a risky endeavor -- only 12% of drugs entering clinical trials ultimately receive FDA approval. Developing a single new medication can cost billions of dollars.
For a novel rare disease treatment, the risks are even higher. Even when a rare disease therapy proves successful, small patient populations can make it difficult for developers to recoup their R&D expenses.
One program that has been critical in spurring rare disease innovation despite the immense costs and risks involved, is the Pediatric Priority Review Voucher (PPRV) program. The PPRV program offers incentives for companies to develop treatments for rare diseases impacting children. When the FDA approves a pediatric rare disease treatment, it awards the developer a voucher for expedited FDA review of a future drug application. This voucher can also be sold to fund future research. Since the program launched, 53 vouchers have been awarded for medicines that treat 39 rare diseases and impact more than 200,000 patients.
Despite this success, the PPRV program's future is uncertain. Late last year, Congress allowed it to expire after a proposal to extend the program failed. We are now waiting for lawmakers to introduce a bill that could reinstate this vital initiative through 2029. Without it, the already uphill battle of developing treatments for rare diseases becomes even steeper.
Another area in need of urgent attention is the Inflation Reduction Act (IRA), which is creating additional barriers for orphan drug development. The 2022 law permits the federal government to impose price caps on certain drugs covered under Medicare.
Recognizing the unique risks and complexities the rare disease drug market faces, lawmakers exempted from price controls any drug that treats a single rare disease. Oddly, however, drugs that treat multiple rare diseases don't qualify.
That's a big problem. Biotech firms routinely investigate whether a drug already approved to treat one rare condition could possibly treat another rare disease. This closer look pays off. Between 2003 and 2022, the FDA approved at least one additional use for about a quarter of orphan drugs.
But the IRA as currently written is already dissuading scientists and their investors from pursuing this important research.
Fortunately, Congress has a chance to undo this damage. One recently reintroduced bipartisan bill, the ORPHAN Cures Act, would amend the IRA and remove these barriers to rare disease drug development. The bill would bring hope to millions of patients.
My children are alive today -- and living full lives as young adults -- because of cutting-edge scientific research and a policy framework that rewards those who develop rare disease treatments. Passing the ORPHAN Cures Act and reauthorizing the PPRV program would help ensure that the same innovation system that brought hope to my family can help others living with life-altering rare diseases.
John F. Crowley is the President and CEO of the Biotechnology Innovation Organization (BIO).
