Orphan and Rare Diseases

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.

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). There are, in fact, only drugs capable of changing the course of 2% of these pathologies. For the remaining 3%, what exists are palliative alternatives, capable of appeasing some symptoms.

It is this lack of therapeutic resources that face the approximately 13 million individuals who suffer from some rare disease in Brazil. 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.

Among 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.

With a focus on this unmet need, the Biotoscana Group is dedicated to provide the population innovative drugs capable of improving the quality of life of patients with rare diseases, such as cerebrotendinous xantomatosis.