March-Rare Diseases

Innovation.org Highlights Research in Rare Diseases

According to the National Institutes of Health Office of Rare Diseases, there are 6,000–7,000 rare diseases affecting a total of 25 million Americans.^[i] This population is particularly in need of medicines and other treatments because, as the U.S. Food and Drug Administration estimates, 85-90% of rare diseases are serious or life-threatening.^[ii] These vital new treatments are often categorized as “orphan” drugs, or products that are used to treat patients with “orphan” or rare diseases (a disease that affects fewer than 200,000 Americans). With the passing of the Orphan Drug Act in 1983, researchers have made great strides in developing effective treatments for people living with rare diseases.

Recognizing the impact that rare diseases have on the American population, Innovation.org highlights important and innovative research into rare diseases and treatments. Click on the links below to read more about rare disease research.

New Medicines in Development

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 new report by the Pharmaceutical Research and Manufacturers of America (PhRMA). Read more

Innovation in Rare Diseases

Nearly 400 medicines have been approved for rare diseases since 1983.^[iii] Remarkably, the number of medicines in development designated as "orphan products" more than doubled from 208 in 2000-2002 to 425 in 2006-2008, and in 2011 more than a third of new approvals were for orphan drugs. (View Chart: Medicine Approvals for Rare Diseases) Learn why we're seeing this trend, how it's helping patients, and what the future holds.

Learn more about rare diseases, including treatments and progress in current research.

Learn more about key facts and figures in rare diseases and orphan drugs.

Advances in Rare Disease Research

Patient Perspectives

Today there are many treatments for rare diseases that greatly ease the burden for those living with the disease. Click here to read thoughts from patients living with rare diseases and to learn how advances in treatments impact patient lives.

Milestones

Between 1995 and 2005, over 160 drugs for rare diseases were approved. Click here to see a timeline highlighting key milestones in rare disease research and treatments. Just as the number of new orphan drugs being approved has grown, the number currently being studied continues to rise. A recent study in the journal Nature Reviews Drug Discovery found that since the mid-1990s there has been a nearly tripling in the annual number of orphan drug designations from 57 in 1996 to 165 in 2008.^[iv]

Treatments for Specific Rare Diseases

Click on the links below to learn more about innovative new treatments for specific rare diseases.

^[i]National Institutes of Health, "Rare Diseases Clinical Research Network Fact Sheet," http://report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=126&key=R#R (Accessed March 2012).

^[ii]Food and Drug Administration, "Office of Orphan Products Development," Budget 2010, http://www.fda.gov/downloads/AboutFDA/ReportsManualsForms/Reports/

BudgetReports/UCM153550.pdf (Accessed March 2012).

^[iii] Food and Drug Administration, Orphan Drug Designations and Approvals database, http://www.accessdata.fda.gov/scripts/opdlisting/oopd/index.cfm (accessed 28 February 2012).

^[iv] M.M. Braun, et al, "Emergence of Orphan Drugs in the United States: a Quantitative Assessment of the First 25 Years," Nature Reviews Drug Discovery, 10 (2010): 519-522.