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More than 300 Medicines Now in Development to Treat Rare Diseases

WASHINGTON, Feb. 27, 2007  — There are more than 300 medicines currently in development to treat or prevent hundreds of rare diseases, according to a new report released today by the Pharmaceutical Research and Manufacturers of America (PhRMA). Genetic Alliance and the National Organization for Rare Disorders (NORD) joined PhRMA in releasing the report.


The National Institutes of Health estimates that there are approximately 6,000 rare diseases affecting 25 million Americans.  A rare disease is defined as a condition affecting fewer than 200,000 people in the United States.  In the past, treatment options for such conditions have been non-existent or limited, but approval of several new medicines in this research sector over the last few years has fostered great progress.  Since 1995, more than 160 medicines were approved to treat rare diseases, compared to 108 in the decade before and fewer than 10 in the 1970s, according to the new PhRMA report.


“Advances in science, such as a better understanding of molecular and genetic causes of disease, have given researchers important new insights to better treat rare diseases, which are often more complex than other diseases,” said Billy Tauzin, PhRMA president and CEO. “PhRMA member companies are committed to the search for treatments for these diseases and are making strides everyday.”


PhRMA’s report details progress by America’s pharmaceutical research companies with 303 medicines currently in human clinical trials or awaiting approval by the U.S. Food and Drug Administration (FDA).


Examples of medicines in development for rare diseases include:


• A monoclonal antibody for chronic sarcoidosis, an immune system disorder.

• A medicine for Lennox-Gastaut syndrome, a severe form of epilepsy.

• Gene therapy for cystic fibrosis.

• A medication for epidermolysis bullosa, a group of inherited disorders where skin

   blisters develop in response to minor trauma.

• A medicine for Friedreich's ataxia, a genetic disorder.


“The companies undertaking the difficult and costly effort of developing drugs for rare disorders are making a profound impact on the lives of individuals and families with rare disorders,” said Sharon F. Terry, MA, president and CEO of the Genetic Alliance.  “They focus on the question ’what matters’ for people living every day with these diseases.”


The Orphan Drug Act of 1983 provided tax relief and some market exclusivity for companies that develop an orphan drug. That legislation is credited with the explosion in drug approvals for rare diseases after 1983. Under the Orphan Drug Act, 1,679 medicines have been designated orphan drugs (not all are approved) as of January 10, 2007.


“Thanks to the Orphan Drug Act and the combined efforts of the patient community, scientific researchers and industry, treatments have been brought to market for many rare diseases that previously had none,” said Diane Edquist Dorman, vice president for public policy at the National Organization for Rare Disorders.  “NORD thanks the pharmaceutical industry for all it has accomplished over the past quarter century, and we look forward to working with PhRMA to address the challenges to be faced in the next 25 years.”


“Biopharmaceutical research is entering an exciting new era with our growing understanding of the genome and powerful scientific research tools,” added Tauzin. “This is a time of hope for patients with rare diseases. Experts predict the number of orphan drugs will rise in the coming years as more new medicines are developed that target specific genetic disorders.”


Research on rare diseases includes: rare cancers such as liver cancer and melanoma; neurologic disorders such as multiple sclerosis and muscular dystrophy; infectious diseases such as anthrax and West Nile virus; and others such as cystic fibrosis.



The Pharmaceutical Research and Manufacturers of America (PhRMA) represents the country’s leading pharmaceutical research and biotechnology companies, which are devoted to inventing medicines that allow patients to live longer, healthier, and more productive lives. PhRMA companies are leading the way in the search for new cures. PhRMA members alone invested an estimated $43 billion in 2006 in discovering and developing new medicines. Industry wide research and investment reached a record $55.2 billion in 2006.

Posted: February 2007