RESUMO
INTRODUCTION: Despite being reported for the first time almost one century ago, only in the last few decades effective have treatments become available for the mucopolysaccharidoses (MPSs), a group of 11 inherited metabolic diseases that affect lysosomal function. These diseases are progressive, usually severe, and, in a significant number of cases, involve cognitive impairment. AREAS COVERED: This review will not cover established treatments such as bone marrow/hematopoietic stem cell transplantation and classic intravenous enzyme replacement therapy (ERT), whose long-term outcomes have already been published (MPS I, MPS II, and MPS VI), but it instead focuses on emerging therapies for MPSs. That includes intravenous ERT for MPS IVA and VII, intrathecal ERT, ERT with fusion proteins, substrate reduction therapy, gene therapy, and other novel approaches. EXPERT OPINION: The available treatments have resulted in improvements for several disease manifestations, but they still do not represent a cure for these diseases; thus, it is important to develop alternative methods to approach the unmet needs (i.e. bone disease, heart valve disease, corneal opacity, and central nervous system (CNS) involvement). The work in progress with novel approaches makes us confident that in 2017, when MPS will commemorate 100 years of its first report, we will be much closer to an effective cure for these challenging conditions.
Assuntos
Transtornos Cognitivos/terapia , Terapia de Reposição de Enzimas/métodos , Mucopolissacaridoses/terapia , Animais , Transtornos Cognitivos/etiologia , Progressão da Doença , Desenho de Fármacos , Terapia Genética/métodos , Humanos , Mucopolissacaridoses/complicações , Mucopolissacaridoses/fisiopatologiaRESUMO
This is a report of the study on incidents cases about severe adverse events from clinical research protocols that were presented to Research Ethic Committee from Hospital de Clínicas de Porto Alegre, RS, Brasil. The adverse events types, classifications and repercussions are presented in a preliminary evaluation from 1543 severe adverse events notified to Hospital in various medicals specialties.