Rare Disease Is Not Rare: Reflections on Rare Disease Week 2024

By Curt Oltmans, Chief Legal Officer of Fulcrum Therapeutics and Chair of the Rare Disease Company Coalition

For people living with a rare disease, many feel as though they have to face their journey alone. With over 10,000 distinct disease states — 95 percent of which have no cure — the path from diagnosis to care can be complicated, frustrating and costly.

But rare disease is not rare. Over 30 million Americans live with a rare disease, the same number of people in the U.S. living with diabetes. But patients living with a rare disease are often under-researched, underserved and misunderstood, and it doesn’t have to be that way. 

Last week was Rare Disease Week, an annual occasion to come together with a hopeful vision for the future of rare disease research and patient care. It is an occasion we use to remind ourselves, and our lawmakers, that there is no time to lose in our mission to discover, develop and deliver treatments to patients living with a rare disease. Half of all rare disease patients are children, and a third of those children won’t live to see their fifth birthday. 

Rare disease drug developers must continue to pursue scientific innovation and breakthroughs, but unfortunately, policymakers are currently on a dangerous path of creating obstacles to innovation, threatening the existence of rare disease companies. 

As Chair of the Rare Disease Company Coalition (RDCC) and Chief Legal Officer at Fulcrum Therapeutic, I’ve spent years meeting with patients whose stories break my heart, and whose strength fuels our mission to improve the lives of patients with genetically defined rare diseases. 

At Fulcrum, one of our key areas of focus is around Sickle Cell Disease – a condition that primarily affects African-Americans. In a community that is already subject to widespread healthcare inequity and mistreatment within the broader healthcare system, those who suffer from Sickle Cell Disease are faced with a painful, life-shortening disease with few treatment options.

We’re able to invest in this kind of research in large part due to the passage of the Orphan Drug Act in 1983, which created a set of incentives for researching rare disease treatments in addition to treatments for common diseases and conditions. Over the past 40 years, the number of orphan drugs skyrocketed by 1,576% – from just 38 to more than 600 treatments for more than 1,000 rare diseases. 

While the scientific landscape has transformed over the last 40 years, opening up a wide range of new possibilities for our work, the legal and regulatory environment has not kept up. 

Right now, there are several avenues that federal lawmakers and regulators can take to shape and improve the next decade of this work for the better. For instance, the ORPHAN Cures Act would encourage rare diseases research and development by expanding the IRA’s Orphan Drug Exclusion to include multiple rare disease indications. This change allows rare disease companies to follow the science and explore promising research that could lead to additional treatment options. For RDCC members, who spend on average half their annual revenue on R&D, this is a critical fix. 

Additionally, it is critical that Congress reauthorize the Rare Pediatric Disease Priority Review Voucher (PRV) program. The program provides a crucial incentive to direct research and resources toward drug development for our most vulnerable population – our children. Over the past decade, the PRV program has proven itself to be a critical incentive for decision-makers in the rare disease space – from CEOs to venture capitalists – to pursue research in pediatric populations. And it comes at no cost to taxpayers. By reauthorizing the program, Congress can help rare disease drug developers help children living with a rare disease.  

Improving, or even saving, the lives of people living with a rare disease is a nonpartisan issue. On the heels of a powerful Rare Disease Week, we are reminded that while these conditions may be “rare,” the community we serve is large. And while research and treatment challenges we face may be enormous, the need for solutions is even bigger. 

At Fulcrum and among all rare disease innovators in the RDCC, we remain committed to the rare disease community, and strongly advocate for smart policy to ensure we can continue doing the work we love. I have never been more optimistic about the opportunities we have in the current scientific landscape. Now, we just need support to meet the moment – and it’s up to Congress to rise to the occasion.