Approches spécifiques dans le traitement de la mucoviscidose : Innovations des modulateurs CFTR : Correcteurs et potentialisateurs

Details

Supervisors

Leal, Teresinha

Faculty

Faculté de pharmacie et des sciences biomédicales

Degree label

Master [120] en sciences pharmaceutiques, à finalité spécialisée

Abstract

enCystic fibrosis is an autosomal recessive genetic disease most commonly encountered in the Caucasian population, but its incidence is increasing in other parts of the world. It is due to a mutation in the CFTR gene which will code for a defective protein that is no longer able to fulfill its function of transporting chloride and bicarbonate ions. This will lead to the alteration of several systems namely pulmonary, gastrointestinal, metabolic and even reproductive which will manifest clinically in many diseases. Former treatment consisted in managing its clinical manifestations symptomatically. It was only in recent years that appeared on the market CFTR modulators, which are small molecules able to act directly on the dysfunctional protein and improve function by various approaches. This thesis will therefore focus on the innovation of CFTR modulators, not their efficacy and safety already evaluated during clinical studies necessary for their marketing. We will focus on the benefits of CFTR modulators in terms of severity of the disease, use in younger people, and their long-term effectiveness.