The Center for Rare Disease Therapies at KGI recently partnered with the U. S. Food and Drug Administration to host a historic two-day workshop. 

For the first time, officials from the FDA offered a workshop on orphan product designation, meeting with pharmaceutical and biotech companies, academics and patient advocates to walk them through the application process step-by-step. The event was co-sponsored by the National Organization for Rare Disorders (NORD) and Genetic Alliance, both patient advocacy organizations.

Hosted at KGI, the goal of the workshop was to simplify and demystify the orphan designation application process to encourage development of more therapies for people who are suffering from rare diseases. The FDA's Office of Orphan Products Development offers special incentives provided by the Orphan Drug Act to develop these products because there is little profit in developing a drug for a disease that afflicts a small number of people.

To receive orphan designation, the proposed drug therapy must target a rare disease (one with a patient population of 200,000 or less) and it must show promise for treating the rare disease.  According to the National Institutes of Health, rare disorders affect nearly 30 million Americans or approximately 1 out of 10 people. Of the 7,000 identified rare diseases, only about 300 have effective treatments.

Nearly 50 people representing 29 different organizations attended the KGI workshop. Some attendees were pharmaceutical companies while others were start ups working on initial product development or patient advocates.

Chris Hempel of Reno, Nevada, was one of the patient advocate attendees who filed a completed orphan drug designation application at the end of the workshop. The mother of 6-year-old, twin daughters suffering from a rare and fatal cholesterol disease called Niemann Pick Type C, Hempel has appeared on NBC Dateline in her fight to find a treatment for the disease.

Hempel filed her application for a compound called cyclodextrin, which has shown promise in treating the disease. There are only about 150 children living in the United States with Niemann Pick Type C and about 500 worldwide.

"The great thing about the workshop was it really shows how easy the process is to file an orphan drug designation application. Anyone can do it including a patient advocate like me," Hempel said.

Workshop participant Dr. Daniel Darvish, who suffers from an even rarer disease called Hereditary Inclusion Body Myopathy, a muscle-wasting disorder, also submitted an application.  He is trying to treat the disorder based on his own research with gene therapy.

Dr. Ian Phillips, director of the Center for Rare Disease Therapies, said the workshop was historic for the FDA and for KGI.

"The FDA has never before met with companies outside Washington, DC, to assist in actually preparing orphan drug designation applications," said Phillips, who added the workshop also helped accomplish one of the center's primary goals. "In just two days, we increased the number of applications for orphan drug designations." The 14 applications submitted at the end of the workshop totaled more than 5% of the total number of applications received by the FDA in 2009.

Each application for orphan designation must be evaluated by the FDA before orphan designation can be granted. Participation in the workshop confers neither expedited processing nor preferential consideration of an application for orphan designation.

The workshop grew out of a relationship Phillips developed with Dr. Tim Coté, director of the Office of Orphan Products Development, who is on the Advisory Board of the Center for Rare Disease Therapies.

Since taking office 2½ years ago at the FDA, Coté has been looking for ways to interact with academia and develop partnerships to benefit people with rare diseases. Since KGI is one of the few academic centers focused on orphan drugs and rare diseases, Coté felt it made sense to start at KGI. He conducted a workshop for KGI students in October during which he provided them with medical literature on potential orphan drugs and they, in turn, turned that information into orphan drug designation applications. Based on the successful student workshop experience, Coté and Phillips decided that a workshop for industry would be in order.

While 14 applications were submitted on site, Coté expects to receive the balance of the applications shortly.

"We're very satisfied with the way it worked out. I'd give it an 'A.' All the way around, it was historic, innovative and brand new," Coté said. "Hopefully, this will do something positive for people with rare diseases."

Coté also hopes that the workshop will help spread the message that orphan drug designations are within the reach of patient groups, academics and small biotech firms.

"It's a very simple, straightforward process in this environment," Coté said.

Twenty-four KGI students were chosen as ambassadors to escort the participants to meetings with the FDA officers and to make sure the interviews were on time and ran smoothly. Lucienne Nelson, special assistant to Coté, said the KGI student ambassadors were remarkable.

"They were truly professional and made our end of logistics so much easier once we were on site," Nelson said. "We hope to use them as a model for the next workshop."

A second FDA orphan drug workshop is planned at the University of Minnesota in August.

- By Elaine Regus

KGI Background

Educating the future leaders of the bioscience industry, Keck Graduate Institute (KGI) offers an interdisciplinary graduate education through its Master of Bioscience (MBS) degree program and its PhD program in Applied Life Sciences. Using team-based learning and real-world projects, KGI's innovative curriculum seamlessly combines applied life sciences, bioengineering, bioethics and business management. KGI also has a robust research program concentrating on the translation of basic discoveries in the life sciences into applications that can benefit society. KGI is a member of The Claremont Colleges, located in Claremont, California.

Keck Graduate Institute of Applied Life Sciences is dedicated to education and research aimed at translating into practice, for the benefit of society, the power and potential of the life sciences.