Therapeutic Options for the Management of Pompe Disease : Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management
Bolano-Diaz, C. (The John Walton Muscular Dystrophy Research Center. Newcastle University Translational and Clinical Research Institute)
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)

Date:	2022
Abstract:	Pompe disease is a genetic disorder produced by mutations in the GAA gene leading to absence or reduced expression of acid alpha-glucosidase, an enzyme that metabolizes the breakdown of glycogen into glucose. There are two main phenotypes, the infantile consisting of early onset severe weakness and cardiomyopathy, and the adult which is characterized by slowly progressive skeletal and respiratory muscle weakness. Enzymatic replacement therapy (ERT) has been available for Pompe disease for more than 15 years. Although the treatment has improved many aspects of the disease, such as prolonged survival through improved cardiomyopathy and acquisition of motor milestones in infants and slower progression rate in adults, ERT is far from being a cure as both infantile and adult patients continue to progress. This fact has prompted the development of improved or new enzymes and other treatments such as gene therapy or substrate reduction strategies. Here, we review the data obtained from randomized clinical trials but also from open-label studies published so far that have assessed the advantages and limitations of this therapy. Moreover, we also review the new therapeutic strategies that are under development and provide our opinion on which are the unmet needs for patients with this disease.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article de revisió ; recerca ; Versió publicada
Subject:	Glycogen storage disease type II ; Pompe disease ; Enzyme replacement therapy ; Recombinant human acid alphaglucosidase ; Genetic therapy ; Clinical trials
Published in:	Therapeutics and Clinical Risk Management, Vol. 18 (2022) , p. 1099-1115, ISSN 1178-203X

DOI: 10.2147/TCRM.S334232
PMID: 36536827

17 p, 1.9 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
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