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FDA Speeds Innovation in Rare Disease Therapies

Child patient playing in hospital hallway with nurse



Patients often need advocates, and that can be especially true for people with a rare disease, who have unique problems and may have little or no support or available treatment.

The Food and Drug Administration (FDA) is committed to helping patients and advancing rare disease therapies through the development of "orphan" medical products, including drugs, biologics (such as a protein, vaccine or blood product), and devices used to treat a rare disease or condition. The Orphan Drug Act defines a disease as rare if fewer than 200,000 people in the United States have it.

FDA's Office of Orphan Products Development (OOPD), in collaboration with the Center for Drug Evaluation and Research (CDER), is launching web-based educational resources for patients and industry on FDA-related rare disease topics. The first of these resources will debut Feb. 28, 2014, in recognition of International Rare Disease Day, and will cover topics that include how to interact with the agency and how to access therapies that are currently being studied.

Rare Disease Day, which is commemorated on the last day in February, is a global campaign to raise awareness of the more than 250 million people worldwide who suffer from rare diseases. About 7,000 rare diseases have been identified around the world; some have familiar names, such as cystic fibrosis and Lou Gehrig's disease, but many don't. Thirty million Americans have rare diseases, which can be chronic, progressive, debilitating, disabling, severe or life-threatening. About 80 percent of rare diseases are genetic, and about half of all rare diseases affect children.

FDA's Office of Orphan Products Development

FDA is in a unique position to help those who suffer from rare diseases by offering several important incentives to promote the development of products for rare diseases, including:

  • granting orphan drug designation for drugs and biologics, which encourages companies to develop a product by giving them financial and other incentives;
  • providing grant funds to further the clinical development of drugs, biologics, medical devices and medical foods for the treatment of rare diseases;
  • granting humanitarian use device (HUD) designation for medical devices for rare diseases, which makes these products eligible to enter the market via a separate marketing pathway known as the Humanitarian Device Exemption (HDE) Pathway; and
  • providing grants to fund consortia to promote the development of pediatric devices, many of which are used to treat and diagnose rare diseases.

Gayatri R. Rao, M.D., J.D., director of OOPD, says 2013 was a record year for her office. The number of requests under FDA's Orphan Drug Designation Program rose about 18% in 2013 over 2012. FDA received nearly 450 orphan-drug designation requests and designated 258 promising orphan drugs, a 40% increase over 2012, says Rao.

"While many factors may be contributing to the growth of orphan drug development, patients are continuing to drive the push for innovation and treatments," she says.

In 2013, FDA approved 33 drugs for treating rare diseases. Since 1983, FDA has approved more than 450 drugs and biologic products for rare diseases. In the decade prior to the Orphan Drug Act, fewer than 10 treatments had been developed by industry for rare diseases.

"Last year, FDA funded 15 new orphan products grants for about $14 million, all supporting clinical research in rare diseases," says Rao. "Many of the studies that we have funded have supported the approval of orphan drugs and devices for rare disease patients."

On the device side, in 2013, FDA designated 16 medical devices for the treatment or diagnosis of rare diseases and approved two under the HDE pathway.

In addition, based on feedback from stakeholders, OOPD revamped its Pediatric Device Consortia (PDC) Grant Program.

"Now we focus more heavily on a consortium's ability to provide more holistic advice on device development," Rao says. "To bring a device to market, you need engineers, scientists, clinicians, business people and regulatory people collaborating for success."

Consortia advise on all sorts of devices through various stages of development, from the prototype stage through animal testing, clinical testing and commercialization. OOPD received 14 PDC applications last year and funded half of them.

In addition to these incentive programs, last year, OOPD, in conjunction with CDER and FDA's Center for Biologics Evaluation and Research (CBER), began administering the new Rare Pediatric Disease Priority Review Voucher Program to promote the development of new drugs and biologics for the prevention and treatment of rare pediatric diseases. In 2013, FDA received five requests for designation as a "rare pediatric disease" and designated three. In 2014, FDA awarded the first voucher under this program for the development of Vivizim to treat patients with a rare congenital enzyme disorder called Morquio A syndrome.

Patients Are Key to Success

FDA is committed to improving the lives of people with rare diseases, says Rao. "We can make progress only if we—patients, industry, researchers and FDA—work together to develop safe and effective products for rare diseases."

Patients play a critical role in that success, and FDA wants to hear their important voice.

"Patients are best able to say what is difficult for them and what sorts of risks they are willing to take," says Rao. "Because of that, FDA is focused on getting that perspective earlier in the process."

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