Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020 Jun;24(3):299-309.
doi: 10.1007/s40291-020-00466-7.

Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020

Cristina Has  1 , Andrew South  2 , Jouni Uitto  2
Affiliations
Review

Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020

Cristina Has et al. Mol Diagn Ther. 2020 Jun.

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.

PubMed Disclaimer

Conflict of interest statement

C.H. was on the advisory board of Castle Creek Biosciences Inc. and A.P.S. owns stock in Krystal Biotech, Inc. J.U. has no conflicts of interest. That are Is Castle Creek Pharmaceuticals the same as the ‚Castle Creek Biosciences‘ mentioned in Table 1 and Sect. 4.1? If so, which name should be used for consistency? directly relevant to the content of this article.

References

    1. Fine J-D, Bruckner-Tuderman L, Eady RAJ, Bauer EA, Bauer JW, Has C, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103–1126. - PubMed
    1. Has C, Bauer JW, Bodemer C, Bolling M, Bruckner-Tuderman L, Diem A, et al. Consensus re-classification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020. - PubMed
    1. Uitto J, Bruckner-Tuderman L, McGrath JA, Riedl R, Robinson C. EB2017-progress in epidermolysis bullosa research toward treatment and cure. J Invest Dermatol. 2018;138:1010–1016. - PubMed
    1. Schwieger-Briel A, Weibel L, Chmel N, Leppert J, Kernland-Lang K, Grüninger G, et al. A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2015;173:1308–1311. - PubMed
    1. Kiritsi D, Kern JS, Schumann H, Kohlhase J, Has C, Bruckner-Tuderman L. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet. 2011;48:450–457. - PubMed

Publication types

LinkOut - more resources