PhRMA: 460 medicines in development for rare diseases

America's biopharmaceutical research companies are intensifying research into rare diseases, which often are among the most devastating to patients and complex for researchers. A record 460 medicines for rare diseases are in late stages of the pipeline, either in clinical trials or awaiting Food and Drug Administration (FDA) review, according to a report released today by the Pharmaceutical Research and Manufacturers of America (PhRMA).

“Researchers at biopharmaceutical companies are working every day to bring hope to patients with limited options.”

The report's release comes in advance of Rare Disease Day® on February 28, which is intended to raise awareness of the problem and need for solutions. Of the 7,000 rare diseases, about half afflict children, according to the National Institutes of Health (NIH).

As currently defined by the U.S. government, a rare or "orphan" disease is one that afflicts fewer than 200,000 Americans. About 80% of rare diseases affect fewer than 6,000 U.S. patients, but taken together, rare diseases are common. An estimated 25-30 million Americans suffer from a rare disease. Often, patients suffer for years before getting a correct diagnosis, only to hear there is very little or nothing to help them.

"Once you've talked to a desperate parent whose child is suffering or dying, you will be forever convinced of the need for medical innovation, including for terrible diseases that afflict even just a few," said PhRMA President and CEO John J. Castellani. "Researchers at biopharmaceutical companies are working every day to bring hope to patients with limited options."

Peter L. Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD), said that the lack of approved treatment for many rare diseases is a serious public health concern worldwide, but that much progress has been made in recent years.

"The patient community applauds those individuals and companies choosing the less-traveled research path," he added. "We are hopeful that many rare disease patients who currently have no treatment will someday benefit from these very important research efforts."

A comparison of PhRMA's three previous reports on medicines in development for rare diseases reveals a steady increase in research that is bringing new medicines to the clinical trial stage and beyond. PhRMA's first report on the subject in 1989 found 133 medicines in development for rare diseases. The number jumped to 176 in 1991, to 303 in 2007 and to 460 today.

Researchers attribute the increases in part to progress made in basic science that provides clues that can be followed in the lab and in part to improved government policies like the Orphan Drug Act, which provides some incentives for research into rare diseases.

Special challenges are faced by those who fight against rare diseases. For example, it can be difficult to find enough patients for clinical trials and enough medical experts to both conduct clinical trials and sit on review boards. Balancing access to a medicine against safety issues can be particularly difficult when a rare disease, left untreated, has devastating or fatal consequences. For example, a medicine that can help control infantile spasms, in which young victims can suffer hundreds of seizures a day, also carries the risk of damaging peripheral vision.

The challenges help make victory all that much sweeter, says Chris Silber, M.D., vice president of U.S. Clinical Research and Medical Affairs for Lundbeck Inc. "Finding a therapy that really works in an underserved population that has been through tremendous adversity," says Silber, "is one of the most gratifying things I can imagine."