10,867 rare diseases were discovered in the world

They are disorders that affect 1 in 2,000 people; besides being a third more than a decade ago

Thanks to scientific and technological progress, it has been possible to describe more rare diseases (EPOF). These are disorders that affect 1 in 2,000 people. They include genetic diseases, cancers, infectious diseases, poisonings, immune diseases, idiopathic diseases, and other indeterminate conditions.

On World Rare Disease Day. A recent global report identified that the number of recognized rare diseases now stands at 10,867, an increase of more than a third over the past decade.

According to the non-governmental organization “Rare Diseases International”, patients with these types of conditions often experience prolonged periods without a diagnosis. It can take more than 4 years. Many remain undiagnosed.

Patients are also more likely to suffer from misdiagnosis. This situation can lead to inadequate treatment and progression of the disease. Even with a diagnosis, clinical management of patient care is often inadequate.

“Without sufficient knowledge about a rare disease, physicians cannot assess the complexity of the condition, anticipate the course of the disease, or standardize health management practices,” said the nongovernmental organization, which advocates for patients’ rights. .

Over the past few years, more than 5,000 clinical studies have focused on the research and development of treatments for rare diseases.

There are different reasons that make developing treatments for rare diseases (EPOF) more complex and less efficient compared to other disorders.

Potential participants in clinical trials are very few and are generally widely dispersed geographically. With this comes the advantage of accurate and public records of people with EPOF.

Few medical specialists are available in EPOF and this leads to a lot of variability regarding the previous treatments that each potential participant received before the study.

Many of the potential patients are babies or children, who need their growth and development to be carefully monitored and strict follow-up to ensure adherence to the protocol. That implies the greatest dedication for parents and caregivers.