Current and innovative emerging therapies for porphyrias with hepatic involvement
mRNA therapy
Heme synthesis
RNA interference technology
Liver gene therapy
Direct-acting antiviral agents and PCT
Hematopoietic-stem-cell-based gene therapy
Lentiviral vectors
Melanogenesis stimulator
Antisense oligonucleotide therapy
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© 2019 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
Fontanellas-Romá, A. (Antonio); Avila, M.A. (Matías Antonio); Anderson, K.E. (Karl E.); et al. "Current and innovative emerging therapies for porphyrias with hepatic involvement". Journal of Hepatology. 71 (2), 2019, 422 - 433
Porphyrias are rare inherited disorders caused by specific enzyme dysfunctions in the haem synthesis pathway, which result in abnormal accumulation of specific pathway intermediates. The symptoms depend upon the chemical characteristics of these substances. Porphyrins are photoreactive and cause photocutaneous lesions on sunlight-exposed areas, whereas accumulation of porphyrin precursors is related to acute neurovisceral attacks. Current therapies are suboptimal and mostly address symptoms rather than underlying disease mechanisms. Advances in the understanding of the molecular bases and pathogenesis of porphyrias have paved the way for the development of new therapeutic strategies. In this Clinical Trial Watch we summarise the basic principles of these emerging approaches and what is currently known about their application to porphyrias of hepatic origin or with hepatic involvement.

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