Editor’s note: This version corrects an earlier number on orphan drugs approvals in 2019

On paper, it may be easy to gloss over 2019 as a down year for rare disease drug approvals, but the year was marked by commercialization of several significant therapies that have the potential to transform outcomes for patients with certain conditions.

The U.S. Food and Drug Administration Center for Drug Evaluation and Research approved a total of new 48 drugs in 2019, down from the 59 it approved the previous year. Nevertheless, it was the second highest year since at least 2009, a period where the agency approved an average of 33 novel drugs.

Of those, 21 approvals (44 percent) were novel drugs for orphan indications, a drop from the 34 drugs (58 percent) approved for orphan indications in 2019. Not included in the count are therapies approved by the FDA’s Center for Biologics including Novartis’ gene therapy Zolgensma, the first gene therapy to treat spinal muscular atrophy type 1, the most severe form of the disease. It represented increasing momentum of advances of such products through development and into the marketplace.

The year also saw the approval of Vertex Pharmaceuticals’ Trikafta, a breakthrough triple combination therapy to treat patients with the most common form of cystic fibrosis. The Cystic Fibrosis Foundation hailed the drug as the “single greatest therapeutic advancement in the history of CF.” The FDA approved the drug for patients 12 years and older with cystic fibrosis who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is estimated to represent 90 percent of the cystic fibrosis population.

“We at the CF Foundation, and many in the CF community, have dreamed about this milestone for decades,” said Preston Campbell, president and CEO of the Cystic Fibrosis Foundation. “Throughout my decades as a clinician caring for people with CF, I’ve looked forward to the day when we would be able to dramatically transform the treatment of this disease. I’m deeply grateful to be able to say that day is here.”

Other notable approvals include Novartis’ Adakveo is the first targeted therapy approved for sickle cell disease. Adakveo inhibits selectin, a substance that contributes to cells sticking together that leads to vaso-occlusive crisis in patients with the rare blood disorder. The agency also approved Global Blood Therapeutics’ Oxybryta, the first treatment for sickle cell disease that works by targeting the root cause of the disease.

The year also saw the approval of Alnylam Pharmaceuticals’ Givlaari for acute hepatic porphyria and the company’s second RNAi therapeutic to win approval. And, in what was a surprising reversal for the FDA, Sarepta Therapeutics won approval for Vyondys 53 for patients with the neuromuscular condition Duchenne muscular dystrophy who are amenable to exon 53 skipping. The approval came four months after the agency rejected the drug over safety concerns.

In many cases, the agency moved with speed to approve orphan therapies that have the potential to significantly improve outcomes for patients and reshape the landscape of specific rare diseases. While others with unmet needs may be in a race against the clock, the ability of some of these therapies to transform the lives of patients stands as hope to others who continue to wait for similar therapeutic progress.

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