For the nearly 30 million Americans who suffer from a rare disease, there's heartening news: Drugmakers have been shifting much of their research away from pills for the millions to uncommon disorders that often kill prematurely because there are few or no treatment options.
Pharmaceutical and biotech companies are running patient tests of more than 5,400 potential new medicines, including many being tested for multiple conditions. Nearly 1,800 research projects are for rare diseases, and hundreds more are for disorders for which there's been no new medicine in a decade or more. That's according to a study to be released Thursday, sponsored by the trade group Pharmaceutical Research and Manufacturers of America, known as PhRMA.
The study also found that thousands of those experimental drugs could be the first in a new medicine class with a unique target or effect, including 45 percent of 1,100 drugs that made it to the final patient testing stage. At least 577 use new technologies, from gene therapy to cloned antibodies, to precisely target the disease site and limit side effects elsewhere. And at least 155 are part of a long-awaited vanguard of personalized medicine, in which gene variations or other characteristics help doctors determine whether a medicine will help a specific patient.
"It's past due," but encouraging that drug companies are focusing more on rare disorders, said Christy Greeley of Lake Forest, Ill., whose 12-year-old son Jack has a rare genetic metabolic disorder called cystinosis.
Just several hundred U.S. children have cystinosis, in which an amino acid accumulates into crystals in multiple organs. That can stunt growth and cause thyroid and muscle problems, diabetes and eye damage, even blindness. The crystals also damage kidneys, so the children eventually need a transplant. That used to occur by age 10, but taking multiple medicines can delay it into their 20s.
Jack was very sick and needed a feeding tube as a toddler. One of the eight medicines he now takes, Cystagon, limits the crystal formation, but it causes nasty stomach problems and other side effects. It must be taken every six hours, including a middle-of-the-night dose.
"There's no cure," said his mother, who hopes for one but says Jack is doing better than many children with rare disorders for which there's no treatment.
They're getting more attention for several reasons.
Improved understanding of the biology and genetics of diseases is opening up new research avenues. An unprecedented wave of new generic competition for blockbuster pills that brought drugmakers billions each year has nudged them to do more in neglected areas, trying to develop "specialty" or niche drugs meant for much smaller groups of patients but carrying six-figure price tags. And more companies are taking advantage of grants, tax credits and other incentives of the Orphan Drug Act passed in 1983. In the preceding decade, only 10 drugs for rare diseases had been approved, but more than 350 were approved from 1984 through 2011.
"In all the years I've been working with rare diseases, I think this is the most hopeful period I've seen," said Mary Dunkle, who's worked at the National Organization for Rare Disorders for 14 years. "It's very encouraging." The group pushes for research and provides information and help finding financial assistance for patients with more than 7,000 rare disorders — conditions affecting fewer than 200,000 Americans.
The study, which used multiple government sources and a proprietary database on drugs in development, covers research in process through the end of 2011. Much of it is done in the U.S., and drugmakers invested nearly $50 billion of their own money in 2011 alone.
Along with common conditions such as Alzheimer's and heart disease, the research targets many rare cancers and disorders such as the fatal lung condition idiopathic pulmonary fibrosis, which afflicts roughly 160,000 Americans.
"It's so shortsighted to not look at these diseases," said Greeley. "There's so much that's learned from rare disease research that can be applied to other, prevalent disorders."
John Lechleiter, chairman of PhRMA and CEO of Indianapolis drugmaker Eli Lilly and Co., said the report will help his industry demonstrate its importance as the second Obama administration and Congress look for places to trim the federal budget and deficit.
Officials with PhRMA and trade groups representing biotech and generic drugmakers fear spending cuts that could hurt their members — on the prices paid for drugs bought through Medicare and Medicaid and to budgets for the Food and Drug Administration and the National Institutes of Health. The NIH funds much of the basic science research that underpins later research by drugmakers, and the FDA reviews drugs to decide which should be approved.
"We depend on policies that enable and encourage the risk-taking that is necessary ... for us to make billion-dollar bets with a time horizon of around a decade," Lechleiter said, noting that medicines account for only 10 percent of health care spending and often prevent expensive complications and hospitalizations.
Besides all the experimental drugs being tested in patients, the PhRMA study found another 6,551 were being tested in a total of 9,090 early research projects, in test tubes or animals. Most of those drugs and even ones in patient testing won't reach pharmacy shelves because they're eventually found to have dangerous side effects or not be effective. To get one new drug approved, it takes 10 to 15 years and costs about $1.2 billion, including the expense of all the failed drugs.
That cost is one reason more and more drug research is done in partnerships among drugmakers or with university scientists or patient organizations.
Link to the study: http://www.phrma.org/pipeline
National Organization for Rare Disorders site: http://www.rarediseases.org
Linda A. Johnson can be followed at http://twitter.com/LindaJ_onPharma.