Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020

Mol Diagn Ther. 2020 Jun;24(3):299-309. doi: 10.1007/s40291-020-00466-7.

Abstract

Epidermolysis bullosa (EB) is a group of rare genetic disorders for which significant progress has been achieved in the development of molecular therapies in the last few decades. Such therapies require knowledge of mutant genes and specific mutations, some of them being allele specific. A relatively large number of clinical trials are ongoing and ascertaining the clinical efficacy of gene, protein or cell therapies or of repurposed drugs, mainly in recessive dystrophic EB. It is expected that some new drugs may emerge in the near future and that combinations of different approaches may result in improved treatment outcomes for individuals with EB.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Biomarkers
  • Clinical Trials as Topic
  • Combined Modality Therapy
  • Disease Management
  • Disease Susceptibility*
  • Drug Development*
  • Epidermolysis Bullosa / diagnosis
  • Epidermolysis Bullosa / etiology*
  • Epidermolysis Bullosa / therapy*
  • Gene Expression
  • Gene Targeting
  • Genetic Predisposition to Disease
  • Genetic Therapy
  • Humans
  • Molecular Targeted Therapy* / methods
  • Mutation
  • Treatment Outcome

Substances

  • Biomarkers