On June 29, 2017, the U.S. Food and Drug Administration (FDA) announced a recent initiative for the eradication of the agency’s orphan disease designation request backlog. This backlog includes around 200 orphan drug designation requests. In addition to eliminating this backlog, the FDA has in place a new strategic plan of action for the prevention of a future requests backlog via the implementation of a 90-day response system.

There are approximately 7,000 known rare disorders and diseases to date, and many of these conditions have no treatment or management therapy. Rare diseases, also known as orphan diseases, affect fewer than 200,000 people in each orphan disease group. Few orphan diseases receive market or financial incentives for disease treatment. Those treatment options that are available, however, are often economically impractical for most patients due to the costs associated with drug development.

The first step toward finding a cure for an orphan disease is to request an orphan designation from the FDA. The Orphan Drug Designation Program offers not only orphan status to therapies designed to treat, diagnosis or prevent rare diseases, it also intends to qualify drug sponsors for development incentives. The FDA received 568 new requests for orphan designation in 2016, over twice as many received just four years ago. Approximately 200 orphan drug designations are currently pending review in the FDA’s orphan disease designation request backlog, an issue the FDA is tackling head on with its new Orphan Drug Modernization Plan.

“The uptick in orphan designation requests reflects, among other factors, advances in science that allow researchers to target rare diseases that were previously not readily amenable to therapy,” an FDA spokesman said. As such, this could be a reflection of scientists’ ability to target orphan diseases more appropriately and effectively. The FDA adds, “It is also a reflection of our better understanding of the genetic basis of diseases, which unlocks our ability to define and target rare disorders.”

By September 21, 2017, orphan drug designations older than 120 days will be reviewed by the FDA. Following this intense and rigorous review period, the FDA plans to respond to 100% of all new orphan drug requests within a 90-day period of their receipt to avoid building another designation backlog. A SWAT team consisting of reviewers with experience and expertise in orphan drug designation will be spearheading the backlog elimination program. By providing more certainty to sponsors, the FDA developed this program to simplify as well as reduce the time and associated costs of drug development for orphan diseases.

One of the greatest benefits associated with this program is the implementation and execution of a more efficient designation review process, a process which will hopefully accelerate the study of orphan diseases as well as the development of effective therapeutic options.

According to Rob King, chief operating officer of Novella Clinical, the orphan program may offer benefits to patients with rare diseases, particularly rare cancers: “Speaking from our specialty oncology division, we know that 40% of orphan designations in the EU, and greater than one-third in the U.S., are for rare cancer treatments,” King said. He added, “Orphan status has incentivized many companies to develop new therapies for rare diseases, and cancer patients have reaped the benefits of precision medicine through the orphan program.”

The reach of this new program is vast, impacting an estimated 30 million people in the U.S. alone, according to King. “The inclusion of precision medicine treatments has increased the scope and number of orphan diseases under the current definition. The total number of patients that are impacted is quite large... while the individual diseases may be rare.” Expediting the review and approval process of these designations may mean prompt and earlier treatment, with the hope this will improve overall patient care and outcomes.

Robert Califf, M.D., professor of medicine and vice chancellor for health data science at Duke University, supports the belief that this program will help bring forward more understanding of rare diseases while expanding treatment: “This plan should help pull investment into orphan disease development programs and improve [their] quality.” The end goal of these trials is to help develop a treatment or management protocol for extremely rare diseases. “With genomic and molecular classification,” said Califf, “larger diseases will be segmented. Many diseases thought to be relatively rare turn out to have mild forms that could radically increase the number of eligible patients for treatment.”

The FDA plans on eliminating its orphan drug designations backlog by September 21, 2017. 

This article was reprinted from Volume 21, Issue 27, of CWWeekly, a leading clinical research industry newsletter providing expanded analysis on breaking news, study leads, trial results and more. Subscribe »