Each person possessed a different perspective and relationship to rare disease but everyone shared the goal of finding a cure
This guest post was contributed by Ladia Cheng, PharmD.
A day I spent in Bethesda, MD on September 21, 2010, produced interesting encounters and fascinating stories. The second biannual Conference on Clinical Research for Rare Diseases began with introductions of the participating speakers/panelists.
Peter Markel, MD, MPH (Professor of medicine, Boston University School of Medicine) stated the number of people in the U.S. affected with a rare disease approximates 25-30 million or 8-12% of the U.S. population. However, the number of people in each of the 7,000 rare diseases may range only in the hundreds. Hence, the conduct of clinical trials in rare diseases often requires a consortium (e.g. Clinical Translational Research Association of Oregon Health & Science University).
There are currently 19 consortia throughout the U.S. collating patients, funding, publications and investigators for rare diseases such as Takayasu’s Arteritis, Wegener’s Granulomatosus and Microscopic Polyangiitis.
Why Develop Rare Disorder Therapies?
Despite the obvious disadvantages in developing drugs for rare diseases including the lack of recognition, small market size and overlap of mechanism with other more recognized diseases, there are definite advantages. These include decreased market competition and a detailed knowledge of a single gene defect with known mechanism of action.
The passing of the Orphan Drug Act of 1983 provides further incentives for companies including 7- year market exclusivity, 50% tax cut on development costs and an expedited review/approval process from the FDA. This legislation extends to ICH countries of Japan and Europe. Subsequent countries that adopted forms of Orphan Drug legislation include Australia (1998), Taiwan (2000), Korea (2005) and Singapore (2006).
What’s in a Name?
Rare diseases are often named after the scientists who discovered them. Seated next to me was the President of the Phelan-McDermid Syndrome Foundation whose child is affected with a rare form of autism from a chromosome 22 defect. There are 600 children identified in the U.S. with Phelan-McDermid Syndrome and the one-year old foundation is trying to raise awareness and further research. Seated behind me was no other than Dr. Phelan herself.
Over lunch, I met a young researcher from Columbia University working on Stargardt’s Disease, the most common form of inherited juvenile macular degeneration. He discovered that by using an isotope of Vitamin-A, he can decrease the build-up of “lipofuscin” (otherwise known as gunk) beneath the macula. He has in-licensed the technology to a business partner who was very busy trying to line-up funding at the meeting. Since macular degeneration is the leading cause of blindness in people over 65 of age, his discovery can potentially have wide-spread use. The only undesirable, from my point of view, was that it required an injection into the eye 3-4 times a year. I wished him luck and hope that he can produce a less intrusive method of administration.
The evening’s keynote speaker was John Crowley, former CEO of Novazyme, whose 2 children were affected by Pompe disease. His story of heading a start-up biotech company to cure his children’s disease was featured in a movie called “Extraordinary Measures.” Genzyme acquired Novazyme in 2001 and developed an enzyme replacement therapy that kept his children alive (I hope I am not giving away the movie’s ending). Dr. Edward Kaye, Group Vice President at Genzyme Corporation, spoke of Genzyme’s commitment to continue discovery in Pompe and other rare diseases.
A Common Goal
The 300 participants at this year’s event brought together a rare collection of people: researchers, advocacy groups, patients, clinicians, lawyers, statisticians, entrepreneurs, pharmaceutical companies, the FDA and a bit of Hollywood glamour. Each person possessed a different perspective and relationship to rare disease but everyone shared the goal of finding a cure. The passion and commitment were palpable and I was glad to be part of it.
On the way home, I was left to ponder the following:
I attended a meeting where John Crowley was the keynote speaker,
John Crowley was played by Brendan Fraser in the movie “Extraordinary Measures,”
The movie also featured Harrison Ford as Dr. Robert Stonehill, a character based on Dr. William Canfield who discovered enzyme replacement for Pompe disease,
Harrison Ford was Han Solo, an ally to Luke Skywalker,
My son’s name is Luke.
“May the FORCE be with you!”
(Image courtesy of marmotasverdes)