Rare disease associations perform own research, patient recruitment, clinical trials
HORSHAM PA – A panel of parents who became patient advocates after their children were diagnosed with rare diseases will talk Monday (Oct. 22, 2012) about navigating the drug development process during a conference co-sponsored by DIA, a Horsham-based non-profit association that helps foster medical product development, and the National Organization for Rare Disorders (NORD).
Work done by parents through rare disease associations can be one of the most important factors in getting life-saving help for their children, DIA claims. For many parents, the news that their child has a rare disease has changed their lives. Some have left careers to work full-time on seeking therapies to treat severe illnesses that may affect as few as 500 people in the United States. Five such parents and one patient will be featured speakers at the 2012 U.S. Conference on Rare Diseases and Orphan Products in Washington DC.
“People are going along, living their lives, and then learn their child has a rare disease. These parents are diving into a world unknown to them to navigate the complicated path to find a treatment,” according to NORD President Peter Saltonstall. “We see it over and over again. The result can be critical funding and advocacy for ground-breaking research.”
Patient advocate Ron Bartek lost his son, Keith, to Friedreich’s ataxia, a genetic disease that affects the heart and muscles. There is no treatment for the disease. Bartek and his wife, Raychel, founded the Friedreich’s Ataxia Research Alliance, working tirelessly to raise money for research and clinical trials to advance the likelihood of developing an effective treatment.
Bartek said pharmaceutical companies showed no interest in developing a drug for the disease because it is so rare. Fourteen years later, he is confident that clinical trials under way will result in the first treatment for the disease, thanks to money the alliance raised for research and clinical trials.
“They got interested because we did all of that,” said Bartek. “It’s almost purely a financial decision. Whether a treatment gets developed often depends on the ability of patients or their advocates to get the process started.”
Pharmaceutical companies traditionally have turned their attention to developing therapies for diseases that affect larger patient populations. Because the drug development process is very expensive, time-consuming and challenging, companies have had few incentives to commit the resources to develop therapies that affect very small numbers of patients.
However, some pharmaceutical and biotech companies seem to be showing a recent, renewed interest in the development of rare disease therapies, Saltonstall said.
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