Science, patients driving rare disease drug research surge

April 2, 2015

The global pharmaceutical industry is pouring billions of dollars into developing treatments for rare diseases, which once drew little interest from major drugmakers but now point the way toward a new era of innovative therapies and big profits.

The investments come as researchers harness recent scientific advances, including the mapping of the human genome, sophisticated and affordable genetic tests and laboratory robots that can screen thousands of compounds per hour in search of the most potent ones.

“It’s a very, very promising time,” said Jimmy Lin, a U.S. National Institutes of Health cancer researcher who co-founded the Rare Genomics Institute.

By definition, a rare disease is one that strikes fewer than 200,000 Americans, sometimes only a few dozen. But with 7,000 rare diseases known to doctors, and more emerging all the time, nearly 1 in 10 Americans has a rare disease. For most, there is no treatment, let alone a cure. Just getting an accurate diagnosis often requires a medical odyssey, and 30 % of children with a rare disease die before age 5.

For decades, drugmakers were reluctant to invest in rare-disease treatments, preferring to focus on mass-market drugs for cholesterol, heart trouble and other common problems. Then, a decade ago, patents on some of the industry’s most lucrative medicines began to expire, and cheap generic drugs started wiping out tens of billions of dollars in annual revenue.

So many companies shifted money to rare-disease drugs, knowing that those medicines cost less to develop and will face limited competition. Some already sell for $100,000 or more for a year of treatment, although drugmakers usually give financial aid to patients and big discounts to insurers and government health programs.

“They’re recreating the blockbuster,” said analyst Steve Brozak of WBB Securities. “There’s more money, fewer patients and it’s 10 times easier to defend high prices to payers.”

Last year, the U.S. Food and Drug Administration approved a record 17 medicines for rare diseases. More than 450 others are in development to treat a wide variety of ailments — rare cancers, sickle-cell disease, the hormonal disorder Cushing’s disease and a bleeding ailment called thrombocytopenic purpura, as well as hemophilia, Hodgkin’s lymphoma and pulmonary fibrosis.

Patient-advocacy groups are getting better at raising money for research and building registries of patients that could be used to recruit participants for drug studies, a process that otherwise can take years.

In the 1970s, only a handful of rare-disease drugs got approved. Then the 1983 Orphan Drug Act helped rouse interest by providing expedited drug reviews, tax credits and other benefits for drug companies.

Since then, about 220 medicines have been approved — 93 in the last decade.

For diabetes, heart and other common medications, drugmakers must test treatments on thousands of patients, usually through three rounds of studies lasting roughly seven years total. Counting initial cell and animal studies, and regulatory review at the end, the process easily takes a decade and more than $1 billion.

But for rare diseases, the drugs are tested on much smaller groups, sometimes just a few hundred or few dozen. And patient testing can wrap up a couple of years sooner. That, plus government financial incentives, can cut development costs by one-third to one-half, and approval is nearly assured.

Big drugmakers do not disclose how much they invest in rare diseases. The returns can be huge, though. –

Pfizer Inc. made $3.53 billion last year selling rare-disease treatments, not counting its 10 cancer drugs for patients with specific genetic mutations. By 2019, 34 rare-disease drugs could have annual sales exceeding $1 billion each, according to a forecast by research firm GlobalData.

Other companies leading in the rare-disease field include Baxter International Inc., Bayer Corp., Bristol-Myers Squibb Co., Celgene Corp., Novartis AG and Novo Nordisk A/S. – The Associated Press

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