Orphan diseases defined

In the United States, rare disease is defined as a disease with a prevalence of less than 200000 patients. Some countries have defined a rare disease based on a prevalence of 0.1-0.5% of the population. A rare disease is sometimes referred to as an orphan disease. An orphan drug is defined as a drug to treat a rare disease. The term orphan drug originated from the belief that there were drugs that no pharmaceutical sponsor wanted to develop and market, and thus they were like homeless orphans. 

Cystic fibrosis (CF) is a genetic disease caused by mutations to the gene coding the cystic fibrosis transmembrane conductance regulator (CFTR) protein in many epithelial cells and blood cells. It is the most common autosomal recessive disorder in Caucasians and affects approximately 28,000 patients in the United States and approximately 36,000 patients in Europe. An estimated 70,000 people worldwide have CF. The life expectancy of patients with CF has risen steadily over the last 25 years, from a median predicted age of survival of 25 years in 1985 to 37 years in 2011. Since in the United States an orphan disease is defined as an disease afflicting fewer than 100,000 patients, CF is an orphan disease, and ivacaftor (Kalydeco, 1) is an orphan drug. The drug is also known as a personalized medicine because CF affects about only 70,000 people worldwide. 

Although the term orphan disease means many things to many people, it has a relatively well-defined meaning in the biomedic community. For example, in the United States, it is defined as a disease that affects fewer than 200,000 citizens. This includes extremely rare diseases, such as mad cow disease, which is (thankfully ) so rare that only a handful of cases have been diagnosed in the past several decades. It also includes many widespread tropical diseases, such as malaria, which are not particularly prevalent in the United States. 

The Orphan Drug Act of 1983 was passed to encourage die development and marketing of products used to treat rare diseases. The act defines a rare disease as a condition affecting fewer than 200,000 individuals in die United States. The National Organization of Rare Disorders reports that there are more tiian 6000 rare disorders that affect approximately 25 million individuals. Examples of rare disorders include Tourette s syndrome, ovarian cancer, acquired immunodeficiency syndrome (AIDS), Huntington s disease, and certain forms of leukemia... 

The priority review is applicable for orphan drugs, orphan medical devices and innovative drugs or medical devices that have been authorised to be highly necessary from a medical standpoint. The standards to define orphan drugs are the following (1) patient number of disease indicated for the drug concerned is less than 50 000 (2) excellent usefulness of the drug from the medical standpoint and (3) the development... 

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