The Orphan Drug Act Continues To Give Hope to Patients with Rare Diseases

With no treatments for 95 percent of rare diseases, research remains a top priority

In 2017, Wendell Ott was diagnosed at age 78 with myelodysplastic syndromes (MDS), which quickly progressed to a rare cancer called acute myeloid leukemia (AML). Less than 20,000 people are diagnosed with AML each year in the United States. Stem cell transplants are available as a potentially curative option, but unfortunately, Ott did not qualify for the risky procedure due to his age and overall health.

Over 500 Rare Disease Therapies Have Been Approved Since the Orphan Drug Act Was PassedWhen the U.S. Food and Drug Administration approved three new therapies for AML in 2018, Ott’s doctor recommended giving one a shot. Three months later, he was doing so well that he qualified for a stem cell transplant. After the procedure, his AML went into remission. “I have my life back, and I attribute much of the success I’ve had to the newly approved treatment,” Ott said.

Ott is just one of the more than 25 million people in the U.S. who are hoping to benefit from research being driven by the Orphan Drug Act, which is celebrating its 35th anniversary during this year’s Rare Disease Day.

Today, many people with rare diseases are devoting their time to advocating for the Act, as lawmakers are considering changing the legislation. The proposed changes could limit the development of rare disease therapies.

35 Years of Rare Success



There are potentially 7,000 rare diseases that could affect more than 25 million people in the United States. Before the Orphan Drug Act was passed in 1983, only an estimated 34 treatments were approved to treat them.

Disappointed patients with rare diseases, in need of more treatment options, advocated for legislative changes to facilitate the development of new medicines. The Orphan Drug Act offered incentives to companies developing treatments for rare diseases, including grants for clinical trials, seven years of marketing exclusivity and a 50 percent tax credit on research and development costs.

With more than 500 therapies approved, rare diseases have become a popular area of research due to the Orphan Drug Act. In 2017 alone, there were 80 new orphan drug approvals for an array of diverse diseases, including lysosomal storage disorders, neuromuscular diseases and hemophilia A – rare diseases that previously had little or no treatment options. Following these accomplishments, another 57 therapies were approved within the first eight months of 2018.

“The Orphan Drug Act isn’t just working to incentivize the development in certain therapeutic pockets, but instead across the entire disease spectrum,” said Paul Melmeyer, director of Federal Policy at the National Organization for Rare Disorders. The Orphan Drug Act encouraged pharmaceutical companies to develop therapies with very small patient populations. In fact, about a quarter of approved orphan drug indications target populations wither fewer than 5,000 people.

That progress is only expected to continue, given that the FDA granted orphan drug status to more than 400 investigational therapies in 2017.

I’m hopeful that we have an opportunity to change lawmakers’ minds before it’s too late.

Changes and Misconceptions

Despite its success, the Orphan Drug Act was targeted by Congress in 2017, when the tax credit was cut in half. More changes in the Act’s incentives appear to be on the horizon.



For patients like Ott, that prospect is baffling. “I’m hopeful that patients have an opportunity to change lawmakers’ minds before it’s too late,” he said. “Any efforts to limit or restrict the Orphan Drug Act do not seem well-considered.”

Ott’s suspicions may be well-founded, according to Melmeyer, who notes that the proposed changes are being driven by several misconceptions about rare disease therapies and the approval process.

One popular misconception is that treatments for rare diseases are driving up the cost of healthcare in the United States. Melmeyer countered that orphan therapies account for less than 10 percent of prescription medication spending.

Another misperception is that the incentives delay the development of generics and biosimilars. But in fact, a recent study found that the far more important factor for a lack of generic or biosimilar competition in the space is a potential low return on investment for generics manufacturers. Of note, generic or biosimilar competitors exist for just over half of the 217 orphan therapies that no longer have exclusivity.

Orphan Drug Exclusivity Does Not Delay the Development of Genetics“The orphan designation – and seven-year marketing exclusivity after approval – is focused on a single specific orphan disease and, in my opinion, doesn’t block generics and biosimilars from coming to the market to treat other diseases,” Melmeyer said. “In actuality, we don’t believe that the Orphan Drug Act is being abused; it’s working as intended.”

Dire Consequences

Cutting the tax credit is already forcing some companies to question the practicality of developing rare disease therapies, which will mean fewer treatments, according to Melmeyer.

“The vast majority of patients with a rare disease — 95 percent — are still waiting for that very first treatment indicated for them specifically,” Melmeyer said. “The consequences would be quite concerning, even dire, for many of those patients currently waiting.”

Melmeyer believes that we should be reaffirming support for the legislation and looking for new ways to drive the development of medicines to treat rare diseases. For patients with a rare disease like Ott, these incentives could mean the difference between life and death.

“When I hear about the prospect of limiting the Orphan Drug Act, it’s hard for me not to take it personally,” Ott said. “I don’t know where I’d be right now had the new drug not been approved, which made me eligible for the stem cell transplant. I’ve returned very close to normal, and I’m grateful for that.”

To learn more about the impact that rare diseases have on the lives of patients, read “Rare Disease Forces Abrupt Career Change” and “Rare Disease Day: What It’s Like Living with Behçet’s Disease.”