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Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria.

Katelyn E MadiganSean R RudnickMatthew A AgnewNumra UroojHerbert L Bonkovsky
Published in: Pharmaceuticals (Basel, Switzerland) (2023)
Erythropoietic protoporphyria (EPP) is a genetic disorder stemming from reduced ferrochelatase expression, the final enzyme in the pathway of heme biosynthesis. A closely related condition, X-linked protoporphyria (XLP), bears similar clinical features although it arises from the heightened activity of δ-aminolevulinic acid synthase 2 (ALAS2), the first and normally rate-controlling enzyme in heme biosynthesis in developing red blood cells. Both of these abnormalities result in the buildup of protoporphyrin IX, leading to excruciating light sensitivity and, in a minority of cases, potentially fatal liver complications. Traditionally, managing EPP and XLP involved sun avoidance. However, the emergence of innovative therapies, such as dersimelagon, is reshaping the therapeutic landscape for these conditions. In this review, we summarize salient features of the properties of dersimelagon, shedding light on its potential role in advancing our understanding of treatment options for EPP and XLP.
Keyphrases
  • red blood cell
  • poor prognosis
  • photodynamic therapy
  • cell wall
  • genome wide
  • risk factors
  • gene expression
  • single cell
  • copy number
  • binding protein
  • long non coding rna
  • replacement therapy