Current and innovative emerging therapies for porphyrias with hepatic involvement

Antonio Fontanellas, Matías A. Ávila, Karl E. Anderson, Jean Charles Deybach

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)422-433
Number of pages12
JournalJournal of hepatology
Issue number2
StatePublished - Aug 2019


  • Antisense oligonucleotide therapy
  • Direct-acting antiviral agents and PCT
  • Hematopoietic-stem-cell-based gene therapy
  • Heme synthesis
  • Lentiviral vectors
  • Liver gene therapy
  • Melanogenesis stimulator
  • Porphyrias
  • RNA interference technology
  • mRNA therapy

ASJC Scopus subject areas

  • Hepatology


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