BOSTON, Massachusetts—Boosting financial incentives for innovation in research, speeding up the diagnosis of people with rare diseases, and guaranteeing access to therapies are the 3 most significant challenges facing drugmakers and patient advocacy groups in both the US and Europe, according to a panel of experts.

Suneet Varma
Suneet Varma, world president of Pfizer Rare Disease, speaks at the 2022 World Orphan Drug Congress in Boston, Massachusetts. Credit: Larry Luxner

Suneet Varma, world president of Pfizer Rare Disease, outlined those goals in a July 13, 2022, discussion that took place during the 2022 World Orphan Drug Congress (WODC) here.

“We clearly need stronger policy and legislation to ensure that all rare disease patients have timely access to these treatments,” Varma said. “We know that it takes a lot of time, and in many cases 6 to 8 years, to reach an appropriate diagnosis. That’s too long. It’s especially long when we know that early interventions lead to better outcomes.”

Topping the list of urgent items is pending legislation in both the US House of Representatives and Senate to renew the Prescription Drug User Fee Act (PDUFA), which must be done every 5 years.

Created by Congress in 1992, PDUFA authorizes the US Food and Drug Administration (FDA) to collect fees from companies that produce certain human drug and biological products. Lawmakers last reauthorized the user fee program in 2017. PDUFA is set to expire unless Congress renews it by the end of September 2022, when the new fiscal year begins.

“This is considered must‑pass legislation, and it provides critical infrastructure and resources to FDA,” said Annie Kennedy, chief of policy, advocacy, and patient engagement at the EveryLife Foundation for Rare Diseases.

Kennedy said PDUFA “enabled the accelerated approval pathway, how patient experience data is considered in regulatory decision making, [and] is where the term patient‑focused drug development actually was first coined.”

Yann Le Cam, CEO of Eurordis, speaks at a 2022 World Orphan Drug Congress panel. Credit: Larry Luxner

On the other side of the Atlantic, similar changes are afoot in the 27-member European Union (EU).

“After 20 years of stable legislation of Orphan Medicinal Products, there is in fact a revision,” said Yann Le Cam, CEO of Eurordis, a Paris-based coalition of more than 1000 patient member organizations in 74 countries in Europe and elsewhere.

“A draft legislation will be presented by the end of the year or the beginning of next one [as part of a] bigger revision of all pharma legislation in Europe. We’re obliged to look at this whole spectrum of change. That’s going to be a process which will take another 3-5 years” to develop, adopt and implement, he said.

Le Cam added that the European Medicines Agency—the EU’s equivalent of the FDA—may revise the current 10 years of market exclusivity it currently offers pharmaceutical firms for rare disease therapies. That may drop to 7 years for diseases that have many treatments, but be extended to 12 years for diseases where there are the highest unmet medical needs, in which “there is very little research and absolutely nothing approved,” he said.

“The overall objective with these changes is to make Europe more attractive for investment in clinical research and production,” Le Cam said, “and to be a world leader, not just a follower.”


Keynote fireside chat: US and European policy for rare disease: What is next for healthcare ecosystems, clinical research, data sharing to advance rare disease development and care? Presented at: World Orphan Drug Congress; July 13, 2022; Boston, MA.