According to globalgenes.org, there are approximately 7,000 different types of known rare or orphan diseases and disorders in the world, with more being discovered all the time. Approximately 30 million people in the United States are living with one of these conditions.
In the 1970s, there were fewer than 10 medicines approved to treat these disorders. Since then, however, these numbers have improved dramatically. In 2015, 47% of new drug approvals were granted for rare diseases. And in 2014, the FDA approved a record 46 orphan drugs.
Why the drastic increase in drug research and development over the last 40 years? Growing public awareness has sparked international conversation, compelling elected officials to create rare disease legislation to address the lack of research.
The Orphan Drug Act, the first and arguably most important piece of rare disease legislation, was passed in 1983. The act provides pharmaceutical manufacturers with three primary incentives for industry investment in rare disease treatments, which are, according to Harvard associate professor of medicine Aaron Kesselheim: “(1) Federal funding of grants and contracts to perform clinical trials of orphan products; (2) a tax credit of 50 percent of clinical testing costs; and (3) an exclusive right to market the orphan drug for 7 years from the date of marketing approval.”
Since its passing, the FDA has granted orphan drug designation to more than 3,700 potential therapies and approved more than 500 drugs. The legislation also led to the creation of similar laws in Singapore, Japan, Australia, the EU, Taiwan, and South Korea.
The next significant piece of legislation came in 2002, when Congress enacted the Best Pharmaceuticals for Children Act (BPCA), which established a process for studying both on-patent and off-patent drugs for use in pediatric populations. Shortly thereafter, in 2003, Congress passed the Pediatric Research Equity Act (PREA) as a complement to the incentives offered by BPCA. As a result of these two laws, more than 500 labeling changes were made, use of off-label medication decreased, and researchers have identified more promising pediatric treatment options.
December 2016 brought the most recent game-changing law – the 21st Century Cures Act. Passed with overwhelming support in the US House and Senate, the bill authorized a total of $6.3 billion in funding to “expedite the discovery, development, and delivery of new treatment and cures and maintain America’s global status as the leader in biomedical innovation,” according to the House Energy and Commerce Committee fact sheet. The majority of funding ($4.8 billion) was allocated to the National Institutes of Health (NIH) to fund the Precision Medicine Initiative, the BRAIN Initiative, and the Cancer Moonshot. Other funds were directed toward rare disease causes such as the reauthorization of the Rare Pediatric Disease Priority Review Voucher Program through 2020, and $500 million in funding provided to the FDA to recruit and retain additional specialized employees.
Another provision aimed at addressing orphan diseases, which was included in initial versions of the bill but eventually dropped, was the Orphan Products Extensions Now, Accelerating Cures and Treatments (OPEN ACT). According to globalgenes.org, “the OPEN ACT would provide an incentive for companies to repurpose existing drugs for rare disease indications, which is substantially faster and more cost-efficient than traditional drug development. This legislation is key to supercharging the drug development process and helping ensure the translation of new research into life-saving treatments for patients.”
Hundreds of patient organizations, disease advocates, and government officials are still lobbying for the OPEN ACT, but as of right now, the provision remains sidelined. The good news is that the signed version of the Cures Act includes a host of articles that will benefit the rare disease community and proves that those suffering from these conditions remain a priority for our government and the health community at large.
To learn more about the history of rare disease research and rare disease legislation, check out the infographics we created to celebrate the 10th anniversary of Rare Disease Day earlier this year, and be sure to explore some of our rare disease case studies.