Orphan Diseases and Orphan Drugs : Gaucher disease

Trabalho Final de Mestrado Integrado, Ciências Farmacêuticas, Universidade de Lisboa, Faculdade de Farmácia, 2014Gaucher disease is an inherited autosomal recessive metabolic defect due to a deficiency of the lysosomal enzyme ß-glucocerebrosidase. The most common is type 1, which can produce a broad range of presentations characterized by cytopenia and involvement of the spleen, liver and bone marrow. Types 2 and 3 are rarest variants that manifest in infancy and cause neurologic damages. An early start of an adequate therapy after diagnosis is essential to prevent disease progression and irreversible complications. The purpose of this monograph is to review all the possible treatment strategies. Enzyme replacement therapy and substrate reduction therapy are the only therapeutic categories comprising active substances with marketing authorization in Europe indicated in the treatment of this orphan disease. For small countries like Portugal the economic burden associated with the maintenance of Gaucher disease patients, using the approved drugs, is high. However, pharmacological chaperones and proteostasis regulators harbor the promise of, without compromising the national health systems, being able to improve the quality of life and the survival rate of the patients suffering from Gaucher disease. Taking into consideration the amount of late-stage pipeline molecules approached in this review new and more cost effective orphan drugs are to be expected in a not too far future for the treatment of Gaucher disease