Epidermolysis bullosa: Advances in research and treatment.
Anthraquinones
/ therapeutic use
Antibodies, Monoclonal, Humanized
/ therapeutic use
Antimicrobial Cationic Peptides
/ therapeutic use
Antineoplastic Agents, Immunological
/ therapeutic use
Calcitriol
/ analogs & derivatives
Carcinoma, Squamous Cell
/ etiology
Clinical Trials, Phase II as Topic
Epidermolysis Bullosa
/ genetics
Genetic Predisposition to Disease
Genetic Therapy
Humans
Immunotherapy
Immunotherapy, Active
Molecular Targeted Therapy
Multicenter Studies as Topic
Nivolumab
/ therapeutic use
Palliative Care
Programmed Cell Death 1 Receptor
/ antagonists & inhibitors
Prospective Studies
Research
Skin Neoplasms
/ etiology
Therapies, Investigational
Wound Healing
/ drug effects
Cathelicidins
calcipotriol
diacerein
gene therapy
genodermatoses
squamous cell carcinoma
Journal
Experimental dermatology
ISSN: 1600-0625
Titre abrégé: Exp Dermatol
Pays: Denmark
ID NLM: 9301549
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
18
12
2018
accepted:
21
05
2019
pubmed:
30
5
2019
medline:
12
9
2020
entrez:
30
5
2019
Statut:
ppublish
Résumé
Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds and pain. Novel effective therapeutic approaches are therefore urgently required. Strategies include gene-, protein- and cell-based therapies. This review discusses molecular procedures currently under investigation at the EB House Austria, a designated Centre of Expertise implemented in the European Reference Network for Rare and Undiagnosed Skin Diseases. Current clinical research activities at the EB House Austria include newly developed candidate substances that have emerged out of our translational research initiatives as well as already commercially available medications that are applied in off-licensed indications. Squamous cell carcinoma is the major cause of death in severe forms of EB. We are evaluating immunotherapy using an anti-PD1 monoclonal antibody as a palliative treatment option for locally advanced or metastatic squamous cell carcinoma of the skin unresponsive to previous systemic therapy. In addition, we are evaluating topical calcipotriol and topical diacerein as potential agents to improve the healing of skin wounds in EBS patients. Finally, the review will highlight the recent advancements of gene therapy development for EB.
Identifiants
pubmed: 31140655
doi: 10.1111/exd.13979
pmc: PMC6900197
doi:
Substances chimiques
Anthraquinones
0
Antibodies, Monoclonal, Humanized
0
Antimicrobial Cationic Peptides
0
Antineoplastic Agents, Immunological
0
PDCD1 protein, human
0
Programmed Cell Death 1 Receptor
0
calcipotriene
143NQ3779B
Nivolumab
31YO63LBSN
diacerein
4HU6J11EL5
cemiplimab
6QVL057INT
Calcitriol
FXC9231JVH
Cathelicidins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1176-1189Informations de copyright
© 2019 The Authors. Experimental Dermatology Published by John Wiley & Sons Ltd.
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