Researchers from the University of Pennsylvania and the National Institutes of Health recently started clinical trials of a breakthrough treatment for a rare genetic disorder. Niemann-Pick disease, which makes the body unable to metabolize fats in cell membranes, leads to a loss of control over muscle movement, dementia, seizures and death. The most common variant usually kills by the age of 18 months.
Until now, comfort care has been the only treatment for Niemann-Pick. Cyclodextrin, the drug under investigation, offers the first real hope of something better.
This potential breakthrough is not an isolated example. Across the country, scientists, drug companies, government agencies and nonprofits are working to fill the drug pipeline with treatments for ailments both rare and common. But there is much work to be done.
Uplifting Athletes has joined the fight, aligning college football with rare diseases to raise them as a national priority. Our effort started in 2003 when a Penn State football player's father was diagnosed with kidney cancer. Because this type of cancer is rare, there's been little financial incentive to develop new treatments. Players rallied around their teammate and created Lift For Life, an event to raise research funds.
Since then, the Penn State football chapter has raised close to $700,000 to benefit kidney cancer research, and eight new treatments have been brought to market, compared with only one in the previous 12 years.
Given the success at Penn State, Uplifting Athletes now has 15 additional chapters across the country, each sponsoring a unique rare disease, including Niemann-Pick.
But this effort cannot rest on fund-raising alone. The public policy environment also is crucial to the development and success of new treatments. And lawmakers, in their commendable effort to get a handle on our burgeoning national debt, must be careful not to make short-term cost-cutting decisions with long-term implications, such as putting at risk the development of promising new drugs.
Just look at the results from the past several decades. Researchers once focused almost exclusively on high-profile killers like breast or lung cancer. Thanks to a favorable policy climate, they have been able to expand their work. In the last 10 years, the number of drugs for diseases considered "rare" or "orphaned" has doubled, giving hope to the estimated 25 million Americans living with uncommon diseases.
Right now, 5,400 medications are in development worldwide, 70 percent of which are considered potential "first-in-class," which means they are completely different from anything currently available. These are the medicines most likely to help people for whom today's treatments don't work.
Approximately 1 million people suffer from rare diseases in the commonwealth of Pennsylvania. In the near future, many of these residents could be living longer, healthier and more productive lives.
But this progress is vulnerable. As our elected officials in Washington work to address the fiscal crisis, we must encourage them to preserve the policy environment that has been filling the drug pipeline.
Researchers have come a long way in a few short decades, and a new generation of breakthrough treatments is around the corner. Our lawmakers must not put this promising future at risk.
Scott Shirley is executive director and chairman of Uplifting Athletes, a national nonprofit based in Harrisburg.