There are many common diseases that affect millions of people across the world. On the other hand, there are so-called rare conditions that affect a small number of people. According to the National Institutes of Health (NIH), a rare disease is defined as a condition that affects fewer than 200,000 individuals or fewer in the US. (1) This definition was created by U.S. Congress in the Orphan Drug Act of 1983.(2) Although rare diseases affect small numbers of patients by definition, they are estimated to collectively affect ~350 million patients globally,(3) more than double the number of patients affected by AIDS and cancer combined.
There may be as many as 7,000 rare diseases and the total number of Americans living with a rare disease is estimated at between 25-30 million.(4) These conditions can threaten a person’s life and limit their well-being, 50% of the people affected by rare diseases are children. (5) There are many different causes of rare diseases. Based on the NIH report (1), the majority are thought to be genetic, directly caused by changes in genes or chromosomes. In some cases, genetic changes that cause disease are passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed. Many rare diseases, including infections, some rare cancers, and some autoimmune diseases, are not inherited. While scientists are learning more each year, the exact cause of many rare diseases is still unknown.
Many rare diseases do not have effective treatment. This situation is due to several factors, such as challenges in recruitment, low patient numbers, complex causes and limited understanding of pathology and progression, lack of established endpoints, late phase compound failures, and difficulty doing clinical trials. (6)
All drug launches are complex, launches of orphan drug for rare disease is particularly so. The development of orphan drugs has been financially incentivized through U.S. Orphan Drug Act. that treat rare conditions, as it often involves a more expensive and difficult process. The Act states that companies and drug developers can request their product to be designated as an Orphan Drug. This will be granted by the Food and Drug Administration (FDA) if the drug meets a specific set of criteria. The characteristics in detail can be consulted at 21 CFR Part 316 (The Code of Federal Regulations) and here is a rundown of what is needed:
The drug is meant to treat a rare condition;
There is documentation that adequately supports the fact that the intended condition is indeed rare and is experienced by no more than 200 thousand people in the U.S. ;
There is a scientific rationale that means that the drug is plausible as a treatment for the rare condition.(7-8)
Since the Orphan Drug Act was signed into law in 1983, the FDA has approved hundreds of drugs for rare diseases, but most rare diseases do not have FDA-approved treatments. Specifically, FDA sees significant progress in the development of treatments for rare diseases, the agency approved 32 novel drugs and biologics with orphan drug designation in 2020.
Why is it useful to apply for and receive orphan drug designation? There are significant benefits for the drug manufacturer and developer. There are benefits, such as tax credits of 50% off the clinical drug testing cost awarded upon approval, Waiver of the Prescription Drug User Fee (which is around $3 million at the moment, so it represents a significant expense when trying to launch a new drug product), up to 7 years of market exclusivity, and access to the Orphan Product Grants Program that helps fund research and product development for rare conditions. These are significant benefits that can do a lot of good for promoting and introducing a product meant for rare diseases into a market that sorely needs them. (7)
Orphan drug designation in the United States may be obtained through the office of Orphan Products Development of the FDA. When filing for Orphan Drug Designation, the process must be initiated by someone who is def...
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