News
Creating hope: NIH, FDA and others push for more drug development for rare diseases
Boston Globe
WASHINGTON—Every other week, 7-year-old twins Addison and Cassidy Hempel have an experimental medicine injected into their spines in hopes of battling a rare, fatal disease.
And it’s their mom who made that possible.
From her home in Reno, Nev., Chris Hempel persuaded scientists to share their research and managed to get the government to sign off on her daughters’ unusual experiment. Hempel says getting help to fight a rare disease shouldn’t be so hard.
But it’s a huge challenge to generate drug company interest in the expensive testing of medicines for diseases so rare — like her girls’ Niemann-Pick Type C — that the market is only a few hundred or few thousand people a year.
There are treatments for just 200 of the roughly 7,000 rare diseases, illnesses that affect fewer than 200,000 people, often far, far fewer. Yet add those diseases together, and more than 20 million Americans have one.
Now a movement is beginning to spur more rare-disease treatments: The National Institutes of Health this fall will open a center to speed genetic discoveries into usable therapies, doing some of the riskiest early-stage research in hopes companies then will step in.
A new International Rare Diseases Research Consortium is pushing for at least 200 more treatments by 2020, in part by pooling the work of far-flung scientists and families.
Rather than starting from scratch, the Food and Drug Administration is pointing the way for manufacturers to “repurpose” old drugs for new use against rare diseases, publishing a list of those deemed particularly promising.
And bipartisan legislation recently introduced in the Senate, called the Creating Hope Act, would offer drug makers another financial incentive — a voucher promising fast FDA evaluation of their next blockbuster drug in return for developing a therapy for a rare or neglected disease that disproportionately affects children. It’s unclear what the prospects for passage are.
