Gentamicin for Junctional Epidermolysis Bullosa
Recruiting
Phase 1
Phase 2
Interventional Study
Junctional Epidermolysis Bullosa
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Prior Safety Data
This treatment has already been tested in at least one earlier human trial.
At a Glance
- Sex
- Any
- Trial phase
- Phase 1/2
- Study type
- Interventional
- Purpose
- Treatment
- Participants needed
- 6 (estimated)
- Sponsor
- University of Southern California · Other
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
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 re…
Trial Locations
Loading…
Loading trial locations…
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…
Contacts