Orphan Diseases and Policies to Address Them

Unusual and rare disorders all have unique titles, but collectively they are known as orphan diseases. The U.S. Food and Drug Administration (FDA) defines an orphan disease as "a condition that affects fewer than 200,000 people nationwide." Mesothelioma is in this category. Though each orphan disease is rare, they collectively affect approximately 25 million Americans.

Rare disorders have been dubbed orphan diseases because they are not wide spread enough to warrant "adoption" or medical research by pharmaceutical companies. This means that orphan products, or drugs and treatments used to treat these illnesses, are often limited.

Types of Orphan Diseases

The FDA lists approximately 6,000 disorders that are classified as rare or orphan diseases. Despite their infrequency, many such disorders have become well known among the general public, including Lou Gehrig's Disease, cystic fibrosis, gigantism (acromegaly) and Tourette's syndrome. However, the majority of these orphan disorders are far off the radar of the public eye. Some notable examples include Hamburger disease, Bloom syndrome, Gaucher disease, Kearns-Sayer Syndrome, Raynaud disease, Ewing's Sarcoma and Jumping Frenchmen of Maine.

Common Traits of Orphan Diseases

The vast majority of orphan diseases are genetic. They typically arise from an abnormal genetic mutation, which becomes an inheritable trait in future offspring. In some cases, the genetic mutation is instigated by environmental or toxic conditions. The FDA approximates that 85 to 90 percent of orphan diseases are serious or life threatening.

Due to the rarity of the disease, proper diagnosis is a common issue for those suffering from orphan diseases. It is not uncommon for a proper diagnosis to take five years or longer. Furthermore, patients affected by such disorders frequently have to travel great distances to receive expert care from knowledgeable experts on the disorder.

Previous Orphan Treatment Options

The medical community has largely ignored orphan disorders for decades. From the pharmaceuticals standpoint, this is largely a financial decision, as research into viable prescriptions for rare diseases do not result in wide spread sales. Due to this fact, treatment options were often limited.

In an attempt to spur action among the scientific community, Congress passed the Orphan Drug Act in 1983. The Act promised considerable federally backed incentives for companies who invest in research into orphan disorders. These incentives include:

Tax credits for clinical research
Grant funding
Federal assistance for clinical research
7-year exclusivity rights to newly patented orphan products

Success of the Orphan Drug Act

The incentives created by the Orphan Drug Act have significantly improved treatment options for numerous orphan disorder patients. The Act has been credited with helping develop over 250 orphan drug products. These new drugs have helped treat approximately 13 million United States citizens. As a point of reference, only 10 such drugs were developed in the decade preceding the government assistance program.

Since the introduction of the U.S. Orphan Drug Act, similar programs have been enacted in Japan and Australia. The European Union (EU) also adopted a rare disorders program in 2000. The EU program is largely geared towards raising funding for tropical and localized disorders in developing countries.

Rise Of Orphan Support Groups

The isolation and loneliness felt by rare disease patients is often palpable. Though no less detrimental, sufferers of mainstream disorders have the benefit of support groups that can help reduce stress and mental trauma. The sheer lack of cases in any one location used to make this social treatment outlet nearly impossible for orphan disorder patients.

With the rise of the Internet and other technologies, this is no longer the case. Small groups of patients can find support from fellow disorder sufferers anywhere in the world. In an effort to link these patients, support groups such as the National Organization for Rare Disorders (NORD) have stepped in to help connect such patients.

Future of Orphan Products