Everything from Pricing to Role of Parents Covered at Rare Disease Day 2014
This year Rare Disease Day at KGI was devoted to an exploration of the issues surrounding the development of new drugs to treat rare diseases. Pricing controversies, the need to get physicians more involved in clinical trial recruitment, and the role of parents as chief advocates and de facto lobbyists were among the topics covered by a roster of highly regarded individual speakers and panelists.
After opening remarks by KGI President Sheldon Schuster, Chris Garabedian, CEO of Sarepta Therapeutics, gave a compelling overview of Etepliresen's "road to discovery." Sarepta developed Etepliresen to treat Duchenne Muscular Dystrophy-a rare degenerative neuromuscular disorder causing severe progressive muscle loss and premature death. One of the most common fatal genetic disorders, DMD affects approximately one in every 3,500 boys born worldwide. The condition is universally fatal, and death usually occurs before the age of 30. Etepliresen is designed to address the underlying cause of DMD by enabling the production of a functional dystrophin protein. Dystrophin is a protein involved in muscle function that is lacking in patients with the disorder. Although a study through week 120 showed a continued stabilization of walking ability in eteplirsen-treated patients, as well as a broadly favorable safety and tolerability profile, the FDA has no yet granted the company accelerated approval to market the drug.
In his lunchtime talk, "Small is Beautiful: Orphan Drugs as Garage Science," KGI Professor of Practice Tim Coté said that when it came to developing therapies for rare diseases the big biotech companies could learn a lot from the startups and small companies. He also emphasized how important it was that those involved with orphan drug development listen to patients and their families. "They know what the important end points are," he explained. "For example, a mother whose child has a rare disease can tell you that her son can now walk up the stairs by himself, whereas he never could before."
In addition to Chris Garabedian, this year's industry panel included Bo Cumbo, vice president, business development, Sarepta Therapeutics; Barbara Lavery, chair of the board, Global Genes Project; Tom Lester, MBS '04, associate director, product development, BioMarin Pharmaceuticals; Vinzenz Ploerer, president & CEO, Brace Pharmaceuticals; and Trevor Sell, MBS '11, senior associate consultant, L.E.K. Consulting. During the panel discussion, Lester spoke of his experience leading BioMarin's core team for Vimizim. The FDA recently approved Vimizim for the treatment of Morquio A syndrome which is caused by a missing metabolic enzyme that leads to problems with bone development, growth and movement. It affects about 800 people in the United States.
Each year, Rare Disease Day at KGI features the screening of relevant film. This year's film was "Fight to Live," which explores the complexities of the FDA's drug approval process and follows the lives of people fighting to gain access to drugs that may prolong their lives. The film included interviews with Dr. Coté, who previously served as the director of the FDA's Office of Orphan Products Development.In a post-screening panel discussion, he shared his "behind-the-scenes" insight into the "FDA thinking" in the cases featured in the film.
"Each year Rare Disease Day at KGI offers a new opportunity to raise awareness about the need for new therapies to treat rare diseases. This is so important because patients and their families are often left to fight the battle alone," said Dr. Ian Phillips, event organizer and director of KGI's Center for Rare Disease Therapies. "It's also a chance to educate our students on rare diseases and strengthen the Institute's relationship with companies producing new medicines."