Utilize este identificador para referenciar este registo: https://hdl.handle.net/1822/71539

TítuloFabry disease therapy: State-of-the-art and current challenges
Autor(es)Azevedo, Olga
Gago, Miguel Fernandes
Miltenberger-Miltenyi, Gabriel
Sousa, Nuno
Cunha, Damião
Palavras-chavefabry disease
enzyme replacement therapy
agalsidase alfa
agalsidase beta
migalastat
pegunigalsidase alfa
moss-derived alfa galactosidase A
substrate reduction
mRNA
gene therapy
Data2021
EditoraMultidisciplinary Digital Publishing Institute
RevistaInternational Journal of Molecular Sciences
Resumo(s)Fabry disease (FD) is a lysosomal storage disorder caused by mutations of the <i>GLA</i> gene that lead to a deficiency of the enzymatic activity of α-galactosidase A. Available therapies for FD include enzyme replacement therapy (ERT) (agalsidase alfa and agalsidase beta) and the chaperone migalastat. Despite the large body of literature published about ERT over the years, many issues remain unresolved, such as the optimal dose, the best timing to start therapy, and the clinical impact of anti-drug antibodies. Migalastat was recently approved for FD patients with amenable <i>GLA</i> mutations; however, recent studies have raised concerns that “in vitro” amenability may not always reflect “in vivo” amenability, and some findings on real-life studies have contrasted with the results of the pivotal clinical trials. Moreover, both FD specific therapies present limitations, and the attempt to correct the enzymatic deficiency, either by enzyme exogenous administration or enzyme stabilization with a chaperone, has not shown to be able to fully revert FD pathology and clinical manifestations. Therefore, several new therapies are under research, including new forms of ERT, substrate reduction therapy, mRNA therapy, and gene therapy. In this review, we provide an overview of the state-of-the-art on the currently approved and emerging new therapies for adult patients with FD.
TipoArtigo
URIhttps://hdl.handle.net/1822/71539
DOI10.3390/ijms22010206
ISSN1422-0067
Versão da editorahttps://www.mdpi.com/1422-0067/22/1/206
Arbitragem científicayes
AcessoAcesso aberto
Aparece nas coleções:ICVS - Artigos em revistas internacionais / Papers in international journals

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