Sun comes out for orphan diseases

WASHINGTON, D.C.—Patients of rare diseases and theirfamilies hope that the U.S. Food and Drug Administration (FDA) Safety andInnovation Act, (FDASIA) signed by President Obama on July 9, will help getthem to get the new drugs their children need—before it is too late.

As the longstanding advocate for the rare disease patientcommunity, the National Organization for Rare Diseases (NORD) was instrumentalin developing and shaping this legislation that includes provisions essentialto patient access to safe and effective healthcare, issues critical to the raredisease community. Established in 1983 by patient advocates who successfullyenacted the Orphan Drug Act, NORD has been an integral part of the developmentof the FDASIA since 2010.

The act will provide more than $6 billion in industry userfees to the FDA over the next five years to fund a share of the agency's reviewof drugs and medical devices.

Specific to the rare disease patient community, the actprovides for accelerated patient access to new medical treatments; the developmentof humanitarian use devices, or medical devices for small patient populations;accelerated development of "breakthrough therapies," or those that show earlypromise; enhanced consultation with rare disease experts; a rare pediatricdisease priority review voucher incentive program; and resolution ofconflict-of-interest issues related to advisory committee participation.

"This legislation represents true progress for people withrare diseases, who often face many struggles accessing treatments for theirdisorders," says Peter L. Saltonstall, president and CEO of NORD. "Ourheritage, understanding, leadership and commitment to the community uniquelyposition us to best understand the complexities and needs of people andorganizations in the rare disease space. We are grateful for the hard work andinput our member organizations and policy partners have contributed over thepast two years—raising awareness among Congress, the FDA and the NationalInstitutes of Health (NIH)."

In past years, "the process was contentious at times, butthis year, it was bipartisan and collaborative in both the Senate and theHouse," Saltonstall says. "We believe that happened, in part, because of theeffective groundwork laid by many stakeholders and in particular by the patientcommunity."

The stakes remain high for rare disease patients and patientorganizations, he says. Of the nearly 7,000 diseases considered rare (definedas affecting fewer than 200,000 Americans), only about 250 have FDA-approvedtherapies. That is a huge challenge for the patient community, and there is agrowing sense of urgency to accelerate the development of treatments.

At the same time, rare disease patients don't want to becomesecond-class citizens with respect to treatments, says Saltonstall. They wantthe same reasonable expectation of safety and efficacy from medical treatmentsthat other patients would have.

Mary Dunkle, NORD's vice president for communications, saysthe legislation's voucher program is crucial for getting treatment to the childrensuffering from rare diseases.

"The FDASIA will incentivize the development of new drugsfor rare pediatric diseases, including childhood cancers, by expanding aprogram through which companies that develop treatments for these rarepediatric diseases can earn vouchers that entitle them to expedited review of afuture product," Dunkle tells ddn.

Thomson Reuters Life Sciences consultants recently releasedresults from a study on orphan drugs, finding that they have the potential togenerate as much lifetime revenue as drugs used for more common healthconditions. The findings are featured in the Thomson Reuters paper, "TheEconomic Power of Orphan Drugs," which states that rare diseases affect from ahandful to up to 200,000 patients and include illnesses such as cysticfibrosis, Wilson's disease, and homozygous familial hypercholesterolemia.

Life-science researchers also found that developmentaldrivers such as government incentives, shorter clinical trials and high ratesof regulatory success make top orphan drugs as economically viable asnon-orphan ones, even though the number of patients benefitting from them issignificantly smaller than those benefitting from non-orphan medicine.

"This new data gives economic validity to the importance oftargeting rare diseases in the global pharmaceutical market," says KiranMeekings, a life-science consultant at Thomson Reuters and co-author of thereport. "Not only does such focus help those affected by rare diseases, ofwhich there are 25 million people in the United States alone, it also furthersthe aim of precision medicine and substantiates the envisioned high returns onthe R&D investment, particularly for drugs with multiple orphan diseaseapprovals."

Current estimates indicate that 250 new rare diseases areidentified annually. This report provides extensive and tangible evidence thatorphan drug development is an important component of biopharmaceutical R&Dstrategy—and that a number of orphan drug therapies are already achieving "blockbuster"status.

"The higher value of companies that have a strongorphan-drug strategy reflects the increasing degree of optimism for thesale-and-profit potential of the rare disease market," says Brian Lester,senior analyst and managing director of the life-science group at financial servicesfirm Manning & Napier. "We expect the orphan disease business model tosustain a competitive edge over the traditional primary care business model inthe future."