Rare Diseases and Orphan Drugs

According to the U.S. National Institutes of Health’s Office of Rare Diseases Research (an office established in 1993), a rare disease – sometimes called an orphan disease – is a disease or condition affecting fewer than 200,000 persons in the U.S. In the U.S. there are some 25 to 30 million people that have a rare disease and it is estimated that 50 percent of all the products approved to treat rare diseases are for children. The office’s website has substantial information on rare diseases, as does a site called Orphanet which covers the subject of rare and orphan diseases throughout Europe and has a searchable index that is particularly user friendly. A disease may also be labeled as rare in the U.S. If the Food and Drug Administration (FDA) determines that a drug (orphan drug) to address a particular disease will not be profitable for seven years after the agency approves its use.

The FDA also has an Office of Orphan Products Development (OOPD) that promotes the evaluation and development of drugs, devices or food products that hold promise for the diagnosis and/or treatment of rare diseases and conditions. The OOPD’s establishment is among the actions taken as a result of the Orphan Drug Act that was passed by the U.S. Congress in 1983. In 2002 the Rare Diseases Act was also enacted.

International Rare Disease Day

While any one rare disease may struggle to get the attention, funding, and scientific research it needs, the subject of rare diseases is gaining attention. There is even an annual “Rare Disease Day” in February in order to raise awareness of the problems associated with rare disease funding and research. On Rare Disease Day in 2012, the first international congress dedicated to rare diseases was held in Switzerland. Among its accomplishments was the establishment of the International Rare Diseases Research Consortium, which will coordinate international policy-making with results from national research projects.

Today, the work of finding treatments, cures and assistance for rare diseases sufferers continues. For example, the Rare Diseases Clinical Research Network (RDCRN) is made up of 19 distinctive consortia that are working together to gather rare disease information, explore treatment, clinical studies, and general awareness for both patients and the medical community.

So, while sufferers of rare diseases and their families and friends, once had to suffer in virtual silence and face desperation in their search for answers and treatments, today the picture has changed and continues to evolve.

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