Using gentamicin to treat junctional epidermolysis bullosa
A Pilot Study of the Restoration of Functional Laminin 332 in JEB Patients With Nonsense Mutations After Topical and Intravenous Gentamicin Treatment
This study is testing if a medication called gentamicin can help improve skin healing and condition in people with a rare skin disorder caused by specific gene mutations.
Quick facts
| Phase | Phase1; Phase2 |
|---|---|
| Study type | Interventional |
| Enrollment | 6 (estimated) |
| Sex | All |
| Sponsor | University of Southern California Academic / other |
| Locations | 1 site (Los Angeles, California) |
| Trial ID | NCT03526159 on ClinicalTrials.gov |
What this trial studies
This clinical trial investigates the use of gentamicin, administered both topically and intravenously, to treat patients with Herlitz junctional epidermolysis bullosa (H-JEB) caused by nonsense mutations in the LAMB3 gene. The study aims to restore the production of laminin beta3, which is crucial for skin integrity, and assess its effects on wound healing and skin adherence. A total of six subjects, including both adults and children, will be monitored for improvements in skin condition and healing during follow-up visits.
Who should consider this trial
Good fit: Ideal candidates are patients with junctional epidermolysis bullosa who have nonsense mutations in the LAMB3 gene.
Not a fit: Patients without nonsense mutations in the LAMB3 gene or those with pre-existing conditions like auditory or renal impairment may not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could significantly improve skin integrity and healing in patients with junctional epidermolysis bullosa.
How similar studies have performed: While this approach is novel in the context of junctional epidermolysis bullosa, previous studies have shown promise in using gentamicin for nonsense mutation readthrough in other conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1\. JEB patients with nonsense mutations in the LAMB3 gene in either one or two alleles. Exclusion Criteria: 1. JEB patients who do not have nonsense mutations in the LAMB3 gene in either allele. 2. Pre-existing known auditory impairment. 3. Pre-existing known renal impairment. 4. Pre-existing known allergies to aminoglycosides or sulfate compounds. 5. Pregnancy.
Where this trial is running
Los Angeles, California
- University of Southern California — Los Angeles, California, United States (Recruiting)
Study contacts
- Study coordinator: Mei Chen, Ph.D.
- Email: chenm@usc.edu
- Phone: 3238650621
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.