Polycythemia Vera and Orphan Drugs

I have a rare disease called polycythemia vera. It is characterized by an overproduction of red blood cells and there are no medications to treat it so about once every three months, a pint of blood is taken from me and replaced by a pint of saline solution. The Office of Rare Diseases (ORD) officially designates my disease as a rare disease in the United States. A disease is considered to be rare in the U.S. if it occurs in less than 200,000 people. Some diseases affect only that many people the entire world. The ORD lists about 6,000 rare diseases and of these 47% affect less than 25,000 people. A second definition of a rare disease is one that is rare in the U.S. but very common in other parts of the world such as malaria or cholera.

The list of rare diseases includes diseases as familiar as cystic fibrosis, Lou Gehrig's disease, and Tourette's syndrome. Some have patient populations of fewer than 100. Some diseases have a population of one. Altogether they affect 25 million Americans. Most are inherited and caused by a gene mutation. Some are caused by environmental and toxic conditions. For one third of people with rare diseases a diagnosis can take one to five years. And there are many diseases that are probably never diagnosed.

It takes a great deal of money to bring a drug to market. For this reason the pharmaceutical companies have been very reluctant to research and market drugs for rare diseases because they would never get back their initial investment. These drugs have no sponsors and for that reason are called orphan drugs.

In an effort to bring orphan drugs to market, Congress passed the Orphan Drug Act in 1983. It offers tax incentives and seven years of exclusivity for drugs developed for rare diseases. Japan and Australia have similar legislation and in 2000 the European Union adopted legislation somewhat similar that also included tropical diseases but did not provide tax incentives.

Since 1983 more than 250 orphan drugs have been developed whereas the previous decade had seen only 10 orphan drugs.

The Rare Disease Act of 2002 establishes a role for the ORD within the NIH to encourage orphan disease research. It also authorized the expansion of national research in developing diagnostic tools and treatments. It funds several regional Centers of Excellence on rare diseases. The ORD makes grants to public or private non-profit organizations to support diagnostic, prevention, and treatment for rare diseases.

The Office of Orphan Products Development (OOPD) at the FDA designates what will be an orphan drug that then qualifies the sponsor to receive benefits from the government to develop the drug. The patient association National Organization for Rare Diseases (NORD) collaborates closely with the FDA. Once a drug comes to market, its price is not controlled so some of these orphan drugs can be quite costly. Some orphan drugs have been of great use in treating other diseases and have sales to millions of consumers but they still retain their government benefits and protections making this a matter of considerable controversy.

There is an interesting private nonprofit organization that develops orphan drugs for diseases in developing countries. It is called One World Health and its sole funding has come from Bill and Melinda Gates to the tune of 4.5 billion dollars.