Research into drugs for "orphan" diseases is on the rise, according to a comprehensive report released yesterday in the American Chemical Society’s online publication Chemical & Engineering News (C&EN). Senior editor Lisa Jarvis wrote the four-part series based on interviews with pharmaceutical industry experts, patients, and their families.

In the U.S., a rare disease is defined as one that affects fewer than 200,000 individuals. According to the National Organization for Rare Disorders (NORD), an estimated 250 new rare diseases are identified every year, affecting 30 million people, or one in 10 Americans, combined. Because rare diseases are often hereditary, about half of them affect children.

The term “orphan” reflects the drug industry’s traditional neglect in developing treatments for such small, single-disease populations. It is generally more profitable for them to develop “blockbuster” drugs for common diseases that can yield billions of dollars annually, while helping drug makers recoup the high costs of clinical trials.

Many of the rarest diseases affect between a few dozen and a few thousand people. Hunter syndrome, for instance, affects fewer than 500 boys in the U.S., and Gaucher's disease, a metabolic disorder, affects only about 5,000 people, according to the Jarvis report.

Jarvis was surprised to learn that at least one large pharmaceutical company is now considering investing in research for diseases with patient populations of only a few hundred.

“That gives a lot of patient groups hope that one day their disease will get noticed,” she said in an interview with Healthline.

Why Now?

The recent rise in orphan disease research is the result of several factors. Vigorous patient advocacy, venture capital investment, industry collaboration, medical breakthroughs, and legislative incentives are dramatically changing the landscape of rare disease research.

Patient advocacy groups are actively lobbying lawmakers, doing their own fundraising for research, and forming nonprofit foundations. NORD serves more than 200 disease-specific groups, helping patients work together to raise awareness and helping drug researchers access patient data and connect with trial participants.

The regulatory climate has been more favorable for developers since the passage of the 1983 Orphan Drug Act, which offers seven years of exclusive market access and a tax credit for 50 percent of the cost of clinical trials. The recent FDA Safety Innovation Act also simplifies the new-drug approval process.

In 2011, the orphan disease drug market reached $50 billion. Behind the scenes, venture capitalists see these legislative incentives as a prime opportunity to generate returns on their investments.

Discovery of the mechanisms underlying more common diseases provides another financial incentive for rare disease research, because drugs designed to treat rare disorders sometimes prove to be beneficial for a broader patient group.

For example, Biogen Idec’s drug Rituximab, a breakthrough treatment for B-cell lymphoma, is projected to generate $34 billion in revenue, according to Thomson Reuters. The drug has since proven helpful in treating rheumatoid arthritis, multiple sclerosis, and a growing list of other autoimmune conditions.

Free Market Mechanisms Drive Research

As highlighted in the C&EN report, key market drivers are also contributing to the surge in rare-disease research. Medications for orphan diseases can cost more than $200,000 per year, although insurance companies typically cover most of the expense. The potential for big profits on expensive drugs is a major incentive for drug companies.

At the same time, patents on several big-name drugs will soon expire, opening the door to generic drug competition and reducing drug company profits. This so-called "patent cliff" is making the rare-disease market more attractive.

And some firms have started funds specifically for rare disease research. GlaxoSmithKline and Prosensa recently joined in a $680 million collaboration to explore therapies for Duchenne muscular dystrophy.

Rapid growth in rare-disease research during the past three years is bringing new hope to patient groups who have worked hard for change and waited far too long for treatments for their loved ones. They may not have to wait much longer.

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