Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020

被引：49
作者：
Has, Cristina [1 ]
South, Andrew [2 ,3 ,4 ]
Uitto, Jouni [2 ,3 ,4 ]
机构：
[1] Univ Freiburg, Fac Med, Dept Dermatol, Hauptstr 7, D-79104 Freiburg, Germany
[2] Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA
[3] Thomas Jefferson Univ, Joan & Joel Rosenbloom Res Ctr Fibrot Dis, Philadelphia, PA 19107 USA
[4] Thomas Jefferson Univ, Jefferson Inst Mol Med, Philadelphia, PA 19107 USA
来源：
MOLECULAR DIAGNOSIS & THERAPY | 2020年 / 24卷 / 03期
基金：
美国国家卫生研究院;
关键词：
SQUAMOUS-CELL CARCINOMA; NATURAL GENE-THERAPY; VII COLLAGEN; STEM-CELLS; REVERTANT MOSAICISM; DISEASE SEVERITY; KINDLER SYNDROME; SKIN; COL7A1; TRANSPLANTATION;
D O I：
10.1007/s40291-020-00466-7
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：299 / 309
页数：11
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  • [11] Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy
    Bornert, Olivier
    Kuhl, Tobias
    Bremer, Jeroen
    van den Akker, Peter C.
    Pasmooij, Anna M. G.
    Nystrom, Alexander
    [J]. MOLECULAR THERAPY, 2016, 24 (07) : 1302 - 1311
  • [12] Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa
    Bremer, Jeroen
    van der Heijden, Elisabeth H.
    Eichhorn, Daryll S.
    Meijer, Rowdy
    Lemmink, Henny H.
    Scheffer, Hans
    Sinke, Richard J.
    Jonkman, Marcel F.
    Pasmooij, Anna M. G.
    Van den Akker, Peter C.
    [J]. MOLECULAR THERAPY-NUCLEIC ACIDS, 2019, 18 : 465 - 475
  • [13] Bremer Jeroen, 2016, Mol Ther Nucleic Acids, V5, pe379, DOI 10.1038/mtna.2016.87
  • [14] Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses
    Chacon-Solano, E.
    Leon, C.
    Diaz, F.
    Garcia-Garcia, F.
    Garcia, M.
    Escamez, M. J.
    Guerrero-Aspizua, S.
    Conti, C. J.
    Mencia, A.
    Martinez-Santamaria, L.
    Llames, S.
    Pevida, M.
    Carbonell-Caballero, J.
    Puig-Butille, J. A.
    Maseda, R.
    Puig, S.
    de Lucas, R.
    Baselga, E.
    Larcher, F.
    Dopazo, J.
    del Rio, M.
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2019, 181 (03) : 512 - 522
  • [15] Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa
    Cianfarani, Francesca
    De Domenico, Emanuela
    Nystrom, Alexander
    Mastroeni, Simona
    Abeni, Damiano
    Baldini, Enke
    Ulisse, Salvatore
    Uva, Paolo
    Bruckner-Tuderman, Leena
    Zambruno, Giovanna
    Castiglia, Daniele
    Odorisio, Teresa
    [J]. MATRIX BIOLOGY, 2019, 81 : 3 - 16
  • [16] Drug therapy: EGFR antagonists in cancer treatment
    Ciardiello, Fortunato
    Tortora, Giampaolo
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (11) : 1160 - 1174
  • [17] Aminoglycosides Restore Full-length Type VII Collagen by Overcoming Premature Termination Codons: Therapeutic Implications for Dystrophic Epidermolysis Bullosa
    Cogan, Jon
    Weinstein, Jacqueline
    Wang, Xinyi
    Hou, Yingping
    Martin, Sabrina
    South, Andrew P.
    Woodley, David T.
    Chen, Mei
    [J]. MOLECULAR THERAPY, 2014, 22 (10) : 1741 - 1752
  • [18] Complexities of TGF-β Targeted Cancer Therapy
    Connolly, Erin C.
    Freimuth, Julia
    Akhurst, Rosemary J.
    [J]. INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES, 2012, 8 (07): : 964 - 978
  • [19] Laminin 332-Dependent YAP Dysregulation Depletes Epidermal Stem Cells in Junctional Epidermolysis Bullosa
    De Rosa, Laura
    Seconetti, Alessia Secone
    De Santis, Giorgio
    Pellacani, Giovanni
    Hirsch, Tobias
    Rothoeft, Tobias
    Teig, Norbert
    Pellegrini, Graziella
    Bauer, Johann W.
    De Luca, Michele
    [J]. CELL REPORTS, 2019, 27 (07): : 2036 - +
  • [20] EGFR inhibition for metastasized cutaneous squamous cell carcinoma in dystrophic epidermolysis bullosa
    Diociaiuti, Andrea
    Steinke, Holger
    Nystroem, Alexander
    Schwieger-Briel, Agnes
    Meiss, Frank
    Pfannenberg, Christina
    Bruckner-Tuderman, Leena
    Ruf, Juri
    De Vito, Rita
    El Hachem, May
    Kiritsi, Dimitra
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (01)
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