And these conditions, most often, are progressive and degenerative, which means that diagnosing and treating them early is the only way to prevent irreversible damage.Īmong the reasons for the pharmacological scarcity are the difficulty of assembling a representative number of patients to carry out clinical studies, the fact that these molecules only benefit a small portion of the population and its high complexity of development, which requires massive investment in search. About Rare Diseases Achalasia Cyclic vomiting syndrome (CVS) Hirschsprungs disease Intestinal pseudo-obstruction Levator syndrome Rumination disorder. It is this lack of therapeutic resources that face the approximately 13 million individuals who suffer from some rare disease in Brazil.
For the remaining 3%, what exists are palliative alternatives, capable of appeasing some symptoms. An orphan disease may be a rare disease (according to US criteria, a disease that affects fewer than 200,000 people) or a common disease. There are, in fact, only drugs capable of changing the course of 2% of these pathologies. Orphan disease: A disease that has not been adopted by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it. The problem is that, for 95% of these changes no treatment is available, according to a survey by the Association of the Pharmaceutical Research Industry (Interfarma). Rare disease is that affecting up to 65 people every 100,000 or 1.3 out of every two thousand, according to the World Health Organization – which corresponds to an universe of approximately 7,000 diseases already cataloged.