Rare Disease Day: More Hope Than Ever Before

2015 was a banner year for rare diseases, with a record number of new drug approvals

As the last day of February rolls around again, patients and their families around the world will celebrate the ninth annual Rare Disease Day. This year, there’s both cause for celebration and reason to push even harder for progress.

A rare disease, sometimes known as an orphan disease, is defined by the US FDA as one that affects fewer than 200,000 Americans and by the European Commission as less than 1 in 2,000 people in the European Union. Because it’s hard to conduct clinical studies on diseases that have so few patients, the basic understanding of many rare diseases—as well as treatments for them—has been slow to progress for many years.

“Right now, there are 7,000 rare diseases but only around 500 approved treatments for those diseases,” said Peter Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD). “There’s a huge unmet medical need and a huge population of people out there who have no therapies.”

Some hope was offered in 2015, when the U.S. Food and Drug Administration (FDA) approved a record-setting 21 new orphan drugs to treat rare diseases. That success can be attributed to more attention by pharmaceutical companies to rare diseases over the past few decades, thanks to the Orphan Drug Act of 1983 as well as efforts by the FDA to move orphan drugs through the approval process as quickly as possible.

In 2015, when the U.S. Food and Drug Administration (FDA) approved a record-setting 21 new orphan drugs to treat rare diseases.

“To have companies like Celgene and others working to bring drugs to the market really helps this patient population,” Saltonstall said.

As part of the Orphan Drug Act, which was passed in 1983, the FDA created a special designation that removes certain barriers to the development of new rare disease treatments. In an August 2015 draft guidance, the FDA highlighted a range of trial designs and endpoints that researchers may consider for rare disease studies, demonstrating its openness to considering small, high-quality clinical trials.

“It’s a combination of the FDA, NORD and the industry all working together to make sure that we can establish smaller trials that are comfortable for companies, comfortable for the FDA, and safe and efficacious for patients,” Saltonstall said.

It’s a combination of the FDA, NORD and the industry all working together to make sure that we can establish smaller trials that are comfortable for companies, comfortable for the FDA, and safe and efficacious for patients.

Even with these 21 new therapies, only five percent of rare diseases have approved treatments, leaving countless patients without hope. Additional government funding for the FDA would help push drugs through the approval process faster and clear the current backlog. Legislation like that included in the 21st Century Cures Act would further expedite the drug approval timeline as well as boost funding for the basic research that’s needed to understand rare diseases.

In an era of increasing copays, it’s vital to ensure treatments for rare diseases remain affordable for patients and their families. Cap the Copay efforts, which have been passed by multiple state legislatures, are one step toward the goal of making sure finances don’t limit patients’ treatment.

Ensuring that patients with rare diseases have affordable access to the most appropriate treatments for their situation is important for society as a whole, especially given the high economic burden of rare diseases. According to recent research, the indirect costs of lost of productivity and premature deaths associated with rare disease outweigh the direct costs of treating those diseases.

For patients with diseases like pancreatic cancer or multiple myeloma—both of which had new treatments approved by the FDA—last year was a success story. But others are still waiting.