Orphan Drug Act: 40+ years of fighting rare diseases

The Orphan Drug Act (ODA) celebrates its birthday on January 3. The year 2024 marks 41 years of revolutionizing drug development for rare diseases and helping millions of patients in the process.

More than 25 million Americans have some kind of rare disease, defined as a condition that is shared by fewer than 200,000 other patients in the United States, according to the National Organization for Rare Disorders (NORD). The limited number of patients for each of these diverse diseases makes it hard for drug developers to receive appropriate compensation for the years of time and millions of dollars typically involved in bringing a new drug to market.

That was the idea behind the ODA, which has encouraged a dramatic increase in the number of drugs developed for rare diseases.

“Since its enactment in 1983, the number of orphan drugs approved by the Food and Drug Administration (FDA) has increased by 1,576%—from just 38 to more than 600 treatments for more than 1,000 rare diseases,” according to the Rare Disease Company Coalition.

The Orphan Drug Act gives the FDA authority to grant orphan-drug designation to a drug or biological product targeting a rare disease. The designation qualifies drug developers to receive various incentives, including tax credits, a waiver of FDA user fees, grants for clinical testing, and the opportunity for up to seven years of exclusivity for the new drug, the FDA says.

The ODA has been supplemented by powerful new legislation and policies, including the Accelerated Approval pathway and the Rare Diseases Act. 

How the Orphan Drug Act encourages research

The ODA’s incentives have not only encouraged discovery and development of new drugs, they have also enabled research that identified more than 7,000 rare diseases, according to NORD.

The research has other benefits, as Jim Geraghty, author of “Inside the Orphan Drug Revolution: The Promise of Patient-Centered Biotechnology,” explains in the foreword to his book.

“Technologies honed in pursuit of orphan drugs have also had much broader applications—an impact shown vividly when RNA technologies developed in treating rare diseases allowed the creation of COVID-19 vaccines with unprecedented speed,” Geraghty writes. “Insights from rare disease studies are also enabling more effective use of common medicines, allowing them to be tailored to individuals who will actually benefit from them and furthering the long-sought goal of ‘personalized medicine.’”

NORD was originally formed as a grassroots patient organization promoting the ODA. They were joined by the brothers behind the network TV show “Quincy,” co-producer, Maurice Klugman and star Jack Klugman, who gave celebrity testimony about the law in Congress, according to an FDA historian.

The bill was sponsored by Rep. Henry Waxman (D-Calif.) and signed into law by President Regan on Jan. 4, 1983.

Recent changes, more to do

The omnibus spending legislation passed in December 2022 requires the FDA to create a Rare Disease Endpoint Advancement Pilot Program. The program would “provide increased interaction with sponsors of rare disease drug development programs for purposes of advancing the development of efficacy endpoints, including surrogate and intermediate endpoints, for drugs intended to treat rare diseases,” according to section 3208 of the new legislation.

The use of a “surrogate endpoint,” a laboratory measurement giving a reasonable indication that the drug will work has been shown to facilitate research in rare diseases, where it is a challenge to recruit patients for clinical trials.

The Orphan Drug Act has done a lot, but more is needed.

“While it’s important to celebrate these amazing successes, it’s equally important to recognize that we still have a long way to go,” says NORD. Further policy promoting orphan drug development is needed.

Meanwhile, orphan drugs face additional risk due to the drug price controls in the Inflation Reduction Act. In late 2023, two versions of the ORPHAN Cures Act were introduced in the House and Senate. The bill would change the IRA incentive structure to encourage follow-on investment into orphan drug development. The bill has bipartisan support, including from voters, and will be key to watch in 2024.

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