Pharmaceutical Research and Manufacturers of America (PhRMA) President and CEO Billy Tauzin today honored Ron and Raychel Bartek for their dedicated work driving awareness of Friedreich's ataxia, a debilitating, life-threatening, rare disease.
The Barteks are co-founders of the Friedreich's Ataxia Research Alliance, an organization dedicated to the pursuit of scientific research leading to treatments and a cure for the disease. However, they are more than advocates; they are also parents of Keith Bartek, who succumbed to Friedreich's ataxia recently at the age of 24.
Although there remains no approved medication to treat the disease, clinical studies are currently being conducted. However, such near-term hope was not always the case, as Raychel Bartek said: "When Keith was diagnosed, I asked the doctor what medicine she would prescribe for him. Her eyes were watering when she said, 'There's nothing he can take.'"
Regarding the lack of treatment options, Ron Bartek added, "The prognosis was awful for Keith."
Unfortunately, millions of families have experienced the same frightening diagnosis of a rare disease that doesn't have any known treatments. In fact, there are more than 1,200 recognized rare diseases, defined as those that affect less than 200,000 people in the U.S. According to the National Organization for Rare Diseases (NORD), roughly 25 million Americans suffer from such a condition.
Like his parents, Keith dedicated his life to raising awareness of the disease, hoping to drive research. "He may have only lived 24 years, but in those 24 years he inspired a lot of people to do the right thing and to accelerate research," Raychel Bartek explained. "Twenty-four years isn't a lot of time for any of us, but he had a purpose in his life and he knew that when he died."
"Because of the relatively small number of patients affected by these rare diseases, many have been historically under-treated," said PhRMA's Tauzin. "That's why America's pharmaceutical research and biotechnology companies continue their commitment to patients suffering from these so-called 'orphan diseases,' and much of that commitment has been facilitated by the Orphan Drug Act."
The Orphan Drug Act provides seven years of market exclusivity to medicines approved to treat a rare disease. Since its passage, the act has spurred increased research for under-treated patients. According to a recent report by the Tufts University Center for the Study of Drug Development, the 425 orphan drug designations for products in development between 2006 and 2008 represent more than twice the number of designations -- 208 -- for the period from 2000 to 2002.
The illnesses being targeted by current rare disease research include rare cancers, autoimmune disorders and cardiovascular disorders. According to a PhRMA survey, some examples of medicines being developed for rare diseases are: a monoclonal antibody for chronic sarcoidosis, an immune system disorder; a medicine for Lennox-Gastaut syndrome, a severe form of epilepsy; a gene therapy for cystic fibrosis; and a medicine for Friedreich's ataxia.
In fact, a 2006 report released by PhRMA and NORD found that more than 160 new medicines for these illnesses had been approved in the decade between 1995 and 2005, compared with 108 such approvals in the decade prior, and fewer than 10 in the 1970s. Many of the new medicines were the first approved to treat a particular disease.
"This recent progress has given under-treated patients access to treatments they've never had before," Tauzin said. "Looking ahead, we will continue to encourage accelerated research in the field of rare diseases and to provide hope for millions of patients to live happier, healthier, more productive lives."
Pharmaceutical Research and Manufacturers of America