Topical Gentamicin Nonsense Suppression Therapy of EB
Status:
Recruiting
Trial end date:
2021-10-01
Target enrollment:
Participant gender:
Summary
The overall purpose of this study is to address whether topical gentamicin therapy is an
effective and feasible treatment. Specifically, we will investigate the effect of
non-intensive treatment (once daily or every other day) on skin protein expression, as well
as quantify the effect on wound healing in patients with EB caused by PSC (part A).
Furthermore, we will address in vitro whether gentamicin restores protein expression of genes
affected by SSM in fibroblasts derived from skin biopsies obtained from patients with EB
caused by SSM (part B). If these in vitro experiments yield positive results, the patients
donating the cells will be offered to enter part A of this study. The overall duration of
part A in this study is planned to be 18 weeks per patients and consists of a 6 weeks
treatment period followed by a 12 week follow up period. Each patient will attend 3 study
visits: at week 0, week 6 and week 18. All patients will be included within a time period of
12 months. The overall duration of part B will be up to 8 weeks per patients of which 4-7
weeks are spent to prepare fibroblasts obtained from skin biopsies. Then 5 days of in vitro
intervention and subsequent analysis follows. Altogether, the duration of the GENTELBULL
study will be 78 weeks or less.