Record number of medicines in development for rare diseases in USA

The USA’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 review, according to a report released today by the Pharmaceutical Research and Manufacturers of America (PhRMA).

The report’s release came 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 US 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 US 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.