NCT03526159 Gentamicin for Junctional Epidermolysis Bullosa
| NCT ID | NCT03526159 |
| Status | Recruiting |
| Phase | Phase 1, Phase 2 |
| Sponsor | University of Southern California |
| Condition | Junctional Epidermolysis Bullosa |
| Study Type | INTERVENTIONAL |
| Enrollment | 6 participants |
| Start Date | 2018-06-01 |
| Primary Completion | 2020-07-30 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
Phase 1 is the earliest stage of human testing — safety and dosage are the primary focus. Visits are frequent and medical supervision is intensive. You will be among the first people to receive this treatment.
This trial targets 6 participants in total. It began in 2018-06-01 with a primary completion date of 2020-07-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Herlitz junctional epidermolysis bullosa (H-JEB), an incurable, fatal, inherited skin disease, is caused by loss-of-function mutations in the LAMA3, LAMB3 or LAMC2 genes, resulting in loss of laminin 332 and poor epidermal-dermal adherence. Eighty percent of H-JEB patients have LAMB3 mutations and about 95% of these are nonsense mutations. The investigators recently demonstrated that gentamicin readily induced nonsense mutation readthrough and produced full-length laminin beta3 in several nonsense mutations tested. Importantly, the gentamicin-induced laminin beta3 restored laminin 332 assembly, secretion, and deposition into the dermal-epidermal junction (DEJ). Newly induced laminin 332 reversed abnormal H-JEB cellular phenotypes. Herein, the investigators propose the first clinical trial of gentamicin (by topical and intravenous administration) in JEB patients with nonsense mutations. The milestones will include restored laminin 332 and hemidesmosomes at the DEJ, improved wound closure, and the absence of significant gentamicin side effects.
Eligibility 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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT03526159 clinical trial?
This trial is open to participants of all sexes, studying Junctional Epidermolysis Bullosa. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
What phase is the NCT03526159 trial and what does that mean for participants?
Phase 1 trials are the first stage of human testing. The primary goal is to assess safety and determine appropriate dosage levels. Participants are closely monitored. These trials typically involve a small number of volunteers.
Is NCT03526159 currently recruiting?
Yes, NCT03526159 is actively recruiting participants. Contact the research team at chenm@usc.edu for enrollment information.
Where is the NCT03526159 trial being conducted?
This trial is being conducted at Los Angeles, United States.
Who is sponsoring the NCT03526159 clinical trial?
NCT03526159 is sponsored by University of Southern California. The trial plans to enroll 6 participants.