Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants.
Daniel Mosallaei, Michelle Hao, Richard J Antaya...
https://pubmed.ncbi.nlm.nih.gov/35234826Actively Recruiting
Phase 1
Phase 2
All Genders
ID03526159
A Pilot Study of Topical and Intravenous Gentamicin to Restore Laminin 332 Function in Junctional Epidermolysis Bullosa Patients With Nonsense Mutations
Led by University of Southern California · Updated on 2020-04-07
6
Participants Needed
1
Research Sites
4 weeks
Total Duration
On this page
AI-Summary
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 mg/kg 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.
CONDITIONS
Brief Title
Gentamicin for Junctional Epidermolysis Bullosa
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Diagnosis of Junctional Epidermolysis Bullosa with nonsense mutations in one or both alleles of the LAMB3 gene
You will not qualify if you...
- Junctional Epidermolysis Bullosa patients without nonsense mutations in the LAMB3 gene
- Known hearing impairment
- Known kidney impairment
- Allergies to aminoglycosides or sulfate compounds
- Pregnancy
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Treatment
Duration - 14 days
Participants receive gentamicin either intravenously once daily or topically twice daily to selected skin sites.
Daily intravenous infusions or twice daily topical applications for 14 days
Follow-up
Duration - 3 months
Participants are assessed for treatment effects and safety, including wound healing and blistering reduction.
Follow-up visits over 3 months
Trial Site Locations
Total: 1 location
1
University of Southern California
Los Angeles, California, United States, 90033
Actively Recruiting
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Research Team
M
Mei Chen, Ph.D.
D
David Woodley, M.D.
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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