Gentamicin Treatment to Restore Laminin 332 Function in Patients with Junctional Epidermolysis Bullosa Caused by Nonsense Mutations

What this Trial Is About

Junctional Epidermolysis Bullosa JEB is a serious inherited skin condition caused by mutations in certain genes leading to problems with skin adherence. This research aims to evaluate the use of gentamicin, an antibiotic, in patients with specific nonsense mutations in the LAMB3 gene. The trial focuses on whether gentamicin can restore important skin proteins and structures, improve wound healing, and avoid significant side effects. Participants will be assigned to one of two groups one group will receive gentamicin ointment applied twice daily to selected skin areas for 14 days, while the other group will receive daily intravenous gentamicin infusions at a dose of 7.5 mgkg for 14 days. Both adults and children with the required genetic mutations are eligible. Follow-up visits will monitor treatment effects and safety. During the study, researchers will assess changes in laminin beta 3 and laminin 332 expression in the skin, formation of new hemidesmosomes using electron microscopy, wound healing progress, and blister reduction over a three-month period. Treatment-related side effects will also be recorded. The total participation includes the 14-day treatment and follow-up assessments up to three months after treatment.

Gentamicin for Junctional Epidermolysis Bullosa