Leading edge: emerging drug, cell, and gene therapies for junctional epidermolysis bullosa

Allison R. Keith, Kirk Twaroski, Christen L. Ebens, Jakub Tolar

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations

Abstract

Introduction: Junctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder with limited treatments beyond palliative care. A major hallmark of JEB is skin blistering caused by functional loss or complete absence of major structural proteins of the skin. Impaired wound healing in patients with JEB gives rise to chronic cutaneous ulcers that require daily care. Wound care and infection control are the current standard of care for this patient population. Areas covered: This review covers research and clinical implementation of emerging drug, cell, and gene therapies for JEB. Current clinical trials use topical drug delivery to manipulate the inflammation and re-epithelialization phases of wound healing or promote premature stop codon readthrough to accelerate chronic wound closure. Allogeneic cell therapies for JEB have been largely unsuccessful, with autologous skin grafting emerging as a reliable method of resolving the cutaneous manifestations of JEB. Genetic correction and transplant of autologous keratinocytes have demonstrated persistent amelioration of chronic wounds in a subset of patients. Expert Opinion: Emerging therapies address the cutaneous symptoms of JEB but are unable to attend to systemic manifestations of the disease. Investigations into the molecular mechanism(s) underpinning the failure of systemic allogeneic cell therapies are necessary to expand the range of effective JEB therapies.

Original languageEnglish (US)
Pages (from-to)911-923
Number of pages13
JournalExpert opinion on biological therapy
Volume20
Issue number8
DOIs
StatePublished - Aug 2 2020

Bibliographical note

Funding Information:
This research was supported by the National Institutes of Health?s National Center for Advancing Translational Sciences, grants KL2TR002492 and UL1TR002494. The content is the sole responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health?s National Center for Advancing Translational Sciences.

Keywords

  • Basement membrane zone
  • cell therapy
  • clinical trials
  • drug therapy
  • extracellular matrix
  • gene therapy
  • hematopoietic cell transplant
  • junctional epidermolysis bullosa
  • keratinocytes
  • wound healing

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