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Innovation in Rare Diseases

In the last three decades, biopharmaceutical companies have made great progress in the fight against rare diseases. Each rare, or “orphan,” disease affects fewer than 200,000 people in the United States. Since 1983, when the Orphan Drug Act was passed, more than 400 medicines have been approved for rare diseases and nearly 2,900 drugs in development have received orphan drug designations.[i] A recent report from the Pharmaceutical Research and Manufacturers of America (PhRMA) echoes that trend, reporting that there are currently 452 drugs in development for rare diseases, compared to 303 in 2007. Orphan drugs also represent a growing proportion of FDA approvals, accounting for 30% in the most recent five-year period. Each of these medicines offers hope and relief to patients with diseases that often have no other treatment options.


According to the National Institutes of Health Office of Rare Diseases, there are 6,000–7,000 rare diseases affecting between 25–30 million Americans.[ii] One in every 10 Americans receives a diagnosis of a rare disease.[iii] This population is particularly in need of medicines because, as the FDA estimates, 85-90 percent of rare diseases are serious or life-threatening.[iv]


Why has the number of orphan drugs being approved grown so much in recent years? One factor is advances in science; a better understanding of molecular and genetic causes of disease has given us new tools to explore rare diseases, which are often more complex than more common diseases. Another factor is the huge and growing investment in research and development in general, as well as in orphan diseases specifically. The Orphan Drug Act, passed in 1983, provided tax relief and some marketing exclusivity for companies who develop an orphan drug. This legislation is credited with the explosion in drug approvals for rare diseases after the Act was passed in 1983.


Today, the number of new drugs in development for rare diseases continues to rise. This report highlights some of the many important drugs for rare diseases that have been approved in the last decade. These medicines have meant a completely different life today for many patients with rare diseases compared with just a few years ago. And, scientists are working each day to make the coming decades as bright as the last was for patients with rare diseases.



  “A Decade of Innovation:
 Advances in the Treatment
of Rare Diseases”
Click here to download the full report.



Click here for a Fact Sheet on Innovation in the treatment of rare diseases.




[i]Pharmaceutical Research and Manufacturers of America, Orphan Drugs in Development for Rare Diseases 2013 (Washington DC: PhRMA, 2013),

[ii]National Institutes of Health, Office of Rare Diseases, Biennial and Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2004, Executive Summary (Bethesda, MD: NIH, 22 July 2005),; National Institutes of Health, Office of Rare Diseases, Access to Quality Testing for Rare Diseases: A National Conference, Overview (Rockville, MD: NIH, 26 September 2005),

[iii]National Organization for Rare Disorders, (accessed 11 August 2005).

[iv]Food and Drug Administration, "Office of Orphan Products Development," Budget 2006, (accessed 7 September 2005).