Clinical research and rare diseases: the Brazilian situation

Abstract

It is characterized as rare all abnormal condition that involves damage or change in health status and that does not happen often. In Brazil it is considered rare a disease that affects 65 or less people per 100,000 individuals (up to 1/1540). Although individual frequency is low, due to the large number of different rare diseases (6-8 thousand different conditions), it is estimated that several million people are affected by them in our country. In general, these diseases are severe, chronic, progressive, difficult to diagnose and require continuous treatment, 80% being of genetic etiology. Studies on the incidence and prevalence of rare diseases should be encouraged, as this information is of high interest to professionals, health authorities, patients, family associations and pharmaceutical companies. A very small portion of rare diseases has a drug treatment approved or in development. The demands of investment in research for the treatment of these diseases are significant, constituting a problem to be tackled globally. Several actions to encourage research in this area have been implemented in the United States, Europe and other countries. In Brazil, this stimulus by the Government is recent and still small. In addition, guidelines for conducting research in Brazil do not consider the peculiarities of rare diseases, affecting the interest of innovative companies to conduct their studies with Brazilian patients. Brazil, which has advanced to establish a comprehensive public policy for people with rare diseases, needs to support the search for new therapeutic possibilities for those conditions.