Rare Diseases Affect Millions of Americans

The Orphan Drug Act of 1983 defines a rare or orphan disease as one diagnosed in fewer than 200,000 people in the United States. This may seem like a small number relative to the overall U.S. population, but with more than 7,000 different rare diseases, the numbers add up.

In all, 25 million Americans-nearly 1 out of every 10 people in the country-suffer from a rare disease. Their conditions range from the more familiar to those largely unknown, including:

  • Cystic fibrosis, a chronic disease of the lungs and digestive system
  • Muscular dystrophy, a progressive muscle disease
  • Lupus, a chronic inflammatory disease
  • Infantile spasm, an early childhood epilepsy
  • Spinal cord degeneration
  • Inherited metabolic inclusion disease, a condition that can destroy muscle cells
  • Uncommon cancers

Treating Rare Diseases is an Economic Challenge

Bringing a new drug or therapy to market requires a significant investment of time and money. In exchange, companies expect to make a profit. But when no more than 200,000 people need a product, companies lack a financial incentive to pursue drug discovery, development and approval. As a result:

  • Research is limited. Many companies have discovered compounds or technologies that might be useful in treating rare diseases but haven’t continued their research because of the limited market for any products they might develop.
  • Treatments are few. About 1,800 drugs and other therapies have been identified or approved. Yet only 350 are commercially available today. Despite financial incentives created through the Orphan Drug Act of 1983 to encourage pharmaceutical companies to develop new therapies, patients with most of the 7,000 identified rare diseases remain without any treatment at all.
  • Cost is an issue. Even when drugs and other therapies are commercially available, their cost can be high. People who might otherwise access treatment simply can’t afford it.

KGI’s Center for Rare Disease Therapies brings attention to the impact and severity of rare diseases in the United States. The center elevates the need for treatment to a problem of national importance that calls for an effective response.