Rare Diseases

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.

Of the 7,000 rare diseases, about half afflict children, according to the National Institutes of Health (NIH). “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."

A major area of research involves rare cancers. Solid tumors of the liver and thyroid, cancer of the blood and melanoma, or skin cancer, account for more than one-third of all rare disease drugs under development.

Other major areas of research include: genetic disorders, such as cystic fibrosis, with 67 medicines in development; neurologic disorders, such as multiple sclerosis and muscular dystrophy, with 37 medicines in development; infectious diseases, such as anthrax and West Nile virus, with 31 medicines in development.

Other examples include a medicine in development for epidermolysis bullosa, a group of inherited disorders where skin blisters develop in response to minor trauma, and one for Friedreich’s ataxia, a genetic disease that causes degenerative nerve damage in children.