Introduction: Epidermolysis bullosa is a severe genodermatosis in which pain and wound management dominate patients’ lives leaving a high demand for more effective treatments. At present, gene therapy is the only treatment with the potential to cure inherited diseases. A small number of individuals with junctional and dystrophic forms of epidermolysis bullosa have received gene replacement therapies involving ex vivo viral transduction of intact transgenes into skin stem cells followed by autologous grafting of corrected epidermal sheets. Corrected stem cells ensure permanent regeneration of stable skin at the graft sites. Areas covered: Alternative therapeutic options are either RNA-based or involve the latest preclinical developments in the area of gene editing using designer nucleases such as TALEN or CRISPR/Cas9, which enable precise targeting of any desired locus and a potential traceless repair of mutations. Due to low targeting efficiencies and safety considerations regarding off-target effects, research in this area focuses on ex vivo approaches involving selection of correctly modified keratinocyte clones. Expert opinion: Although there is currently no single optimal therapy for epidermolysis bullosa, cell and gene therapy technologies are advancing rapidly holding great potential for modifying disease severity and improving quality of life for people living with this devastating disease.

Advances on potential therapeutic options for epidermolysis bullosa / De Rosa, L.; Koller, U.; Bauer, J. W.; De Luca, M.; Reichelt, J.. - In: EXPERT OPINION ON ORPHAN DRUGS. - ISSN 2167-8707. - 6:4(2018), pp. 283-293. [10.1080/21678707.2018.1463216]

Advances on potential therapeutic options for epidermolysis bullosa

De Rosa L.;De Luca M.;
2018

Abstract

Introduction: Epidermolysis bullosa is a severe genodermatosis in which pain and wound management dominate patients’ lives leaving a high demand for more effective treatments. At present, gene therapy is the only treatment with the potential to cure inherited diseases. A small number of individuals with junctional and dystrophic forms of epidermolysis bullosa have received gene replacement therapies involving ex vivo viral transduction of intact transgenes into skin stem cells followed by autologous grafting of corrected epidermal sheets. Corrected stem cells ensure permanent regeneration of stable skin at the graft sites. Areas covered: Alternative therapeutic options are either RNA-based or involve the latest preclinical developments in the area of gene editing using designer nucleases such as TALEN or CRISPR/Cas9, which enable precise targeting of any desired locus and a potential traceless repair of mutations. Due to low targeting efficiencies and safety considerations regarding off-target effects, research in this area focuses on ex vivo approaches involving selection of correctly modified keratinocyte clones. Expert opinion: Although there is currently no single optimal therapy for epidermolysis bullosa, cell and gene therapy technologies are advancing rapidly holding great potential for modifying disease severity and improving quality of life for people living with this devastating disease.
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Advances on potential therapeutic options for epidermolysis bullosa / De Rosa, L.; Koller, U.; Bauer, J. W.; De Luca, M.; Reichelt, J.. - In: EXPERT OPINION ON ORPHAN DRUGS. - ISSN 2167-8707. - 6:4(2018), pp. 283-293. [10.1080/21678707.2018.1463216]
De Rosa, L.; Koller, U.; Bauer, J. W.; De Luca, M.; Reichelt, J.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/1221328
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