The purpose of this study is to evaluate safety, laminin 332 expression, and to assess for improvement in disease severity and wound healing after intravenous or topical gentamicin administration.
Junctional epidermolysis bullosa (JEB) encompasses a spectrum of inherited skin-fragility disorders characterized by mechanically-induced skin and mucosal blistering, commonly due to deficiency or absence of laminin 332. The objective of this study is to evaluate the safety and efficacy of intravenous and topical gentamicin administration in JEB patients. The trial will evaluate gentamicin’s effects on restoration of laminin 332 expression, JEB disease severity, and wound healing.
For the topical arm of the trial, three subjects with JEB are expected to be treated with topical gentamicin twice per day for two weeks. All subjects will receive topical gentamicin to four paired target JEB wounds. For the intravenous arm, three subjects with H-JEB are expected to receive intravenous gentamicin once daily for two weeks. In both arms of the study, proof of efficacy will be established through assays conducted on biopsies taken from target wounds. Improvements in disease severity and wound healing will be assessed through patient surveys and digital photographs.
A stipend for travel and all other study-related expenses will be provided. For more information about the study, or to participate, please contact Mei Chen at (323) 865-0621 or firstname.lastname@example.org.
- Participants must have a diagnosis of JEB
- Participants must have been previously genotyped and found to have nonsense mutations in the LAMB3 gene in either one or two alleles
- Subjects or subject guardians must be, in the opinion of the investigator, able to understand the study, cooperate with the study procedures, and willing to return to the clinic for all of the required follow-up visits
- Please click the link below for exclusion criteria.