Abstract
Epidermolysis bullosa is a family of diseases characterized by blistering and fragility of the skin in response to mechanical trauma. Advances in our understanding of epidermolysis bullosa pathophysiology have provided the necessary foundation for the first clinical trials of gene therapy for junctional and dystrophic epidermolysis bullosa. These therapies show that gene therapy is both safe and effective, with the potential to correct the molecular and clinical phenotype of patients with epidermolysis bullosa. Improvements in gene delivery and in preventing immune reactions will be among the challenges that lie ahead during further therapeutic development.
Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Review
MeSH terms
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Animals
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Autoantigens / genetics
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Autoantigens / metabolism
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Cell Adhesion Molecules / genetics
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Cell Adhesion Molecules / metabolism
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Cell Culture Techniques / methods
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Clinical Trials as Topic
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Cloning, Molecular
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Collagen Type VII / genetics
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Collagen Type VII / metabolism
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Collagen Type XVII
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Disease Models, Animal
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Epidermal Cells / metabolism
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Epidermal Cells / transplantation*
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Epidermolysis Bullosa / genetics
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Epidermolysis Bullosa / therapy*
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Gene Transfer Techniques
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Genetic Engineering / methods
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Genetic Therapy / adverse effects
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Genetic Therapy / methods*
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Genetic Vectors / genetics*
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Graft Rejection / immunology
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Graft Rejection / prevention & control*
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Humans
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Kalinin
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Mutation
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Non-Fibrillar Collagens / genetics
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Non-Fibrillar Collagens / metabolism
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Retroviridae / genetics
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Transplantation, Autologous / adverse effects
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Transplantation, Autologous / methods
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Treatment Outcome
Substances
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Autoantigens
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Cell Adhesion Molecules
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Collagen Type VII
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Non-Fibrillar Collagens