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Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients

NCT02698735 · Status: COMPLETED · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 5

Last updated 2019-10-29

Study results available
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Summary

Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease for which there is only supportive care. RDEB is due to mutations in COL7A1 gene that encodes for type VII collagen (C7), the major component of anchoring fibrils (AFs) mediating epidermal-dermal adherence. Approximately 20% of COL7A1 mutations are nonsense mutations leading to premature stop codons and a truncated C7 with diminished function. The investigators demonstrated that aminoglycosides such as gentamicin readily induce premature termination codon (PTC) "read through" and produce biologically functional C7 in 22 reported COL7A1 nonsense mutations. Importantly, aminoglycoside-induced C7 reversed the abnormal RDEB cell phenotype and incorporated into the dermal-epidermal junction. Herein, the investigators propose the first clinical trial of gentamicin (topical and intradermal) in RDEB patients with nonsense mutations that the investigators have fully characterized. The milestones include increased C7 and AFs at the patients' dermal-epidermal junction and absence of significant gentamicin side effects.

Conditions

Interventions

DRUG

Gentamicin

Gentamicin was either formulated into a 0.1% ointment or solutions for injection were purchased directly from suppliers.

DRUG

Placebo

There are two placebos used in this study. The ointment vehicle (same as used to formulate gentamicin) and vehicle solution for injection.

Sponsors & Collaborators

  • University of Southern California

    lead OTHER

Principal Investigators

  • David Woodley, MD · University of Southern California Department of Dermatology

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
TRIPLE
Model
PARALLEL

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-02-25
Primary Completion
2017-03-31
Completion
2017-06-30

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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 NCT02698735 on ClinicalTrials.gov