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Optimizing IV Gentamicin in JEB

NCT04140786 · Status: UNKNOWN · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 6

Last updated 2022-11-03

No results posted yet for this study

Summary

Herlitz junctional epidermolysis bullosa (H-JEB), an incurable and fatal inherited skin disease, is caused by loss-of-function mutations in LAMA3, LAMB3 and LAMC2. These mutations result in diminished laminin 332 and epidermal-dermal adherence. 85% of JEB patients have nonsense mutations in LAMA3, LAMB3, or LAMC2, suggesting that H-JEB is a prime therapeutic target for nonsense suppression therapy. The investigators recently demonstrated in three patients that topical gentamicin created new and stable laminin 332 at the dermal-epidermal junction (DEJ), and also improved wound closure and skin quality. Furthermore, these preliminary studies showed that intravenous gentamicin also induced laminin 332 and transiently improved patients' clinical outcomes. No untoward side effects occurred. The investigators propose to optimize the intravenous gentamicin regimen including dosage and infusion schedules to enhance the therapeutic outcome. The milestones will be an increase of laminin 332 in the patients' DEJ, improvement in EB Disease Activity Scores, and no gentamicin-associated side effects.

Conditions

  • Junctional Epidermolysis Bullosa

Interventions

DRUG

Gentamicin Sulfate, Injectable

10mg/kg prepared from commercially available stock (typically Kabi Pharmaceuticals) by licensed pharmacists.

Sponsors & Collaborators

  • University of Southern California

    lead OTHER

Principal Investigators

  • Mei Chen, PhD · University of Southern California

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
30 Days
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-10-31
Primary Completion
2023-11-01
Completion
2023-11-01
FDA Drug
Yes

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04140786 on ClinicalTrials.gov