¡¿Rare, orphan, or ultra orphan?!

There is no consensus among countries. Different classifications. Current concepts

September 19 2024

In Colombia, according to the ministry, an orphan disease is one that is chronically debilitating, serious, life-threatening, and with a prevalence of less than 1/5,000 people. They include rare diseases, ultra-orphan diseases, and forgotten diseases. (Law 1392 of 2010/Law 1438 of 2011, and other decrees and resolutions).

¿What is a rare disease?
For the ministry, so-called rare diseases are those that affect a small number of people compared to the general population and that, due to their rarity, raise specific questions.

orphan disease in newborn
However, a disease may be rare in one region, but common in another. There are also many common diseases whose variants are rare. Rare diseases are also highly complex. Most of them are genetic diseases; others are rare cancers, or autoimmune diseases, congenital malformations, or toxic and infectious diseases, among other categories.

¿What is an ultra-orphan disease?
It is an extremely rare condition, with a prevalence of 0.1-9/100,000.

¿What is a neglected disease?
Neglected diseases are a group of infectious diseases, many of them parasitic, that mainly affect the poorest populations with limited access to health services, especially those living in remote rural areas and slums.

solitary kid
Rare diseases in the world
It should be said that there is no single, widely accepted definition of rare diseases. Some definitions are based solely on the number of people living with a disease, and other definitions include other factors, such as the availability of suitable treatments or the severity of the disease. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatment, with no financial incentives from governments or other agencies.