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

Plain-language summary

This study examines the drug Gentamicin, compared with placebo, in patients with recessive dystrophic epidermolysis bullosa (an inherited skin disease). Patients who carry a nonsense mutation in the COL7A1 gene and have reduced C7 protein in their skin could take part. It was conducted in Phase 1/Phase 2 and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

PHASE1/PHASE2

Status

Completed

Sponsor

University of Southern California

Intervention

Gentamicin, Placebo

Start date

2/25/2016

Estimated completion

6/30/2017

Related genes

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

(i) RDEB patients with a nonsense mutation in COL7A1 in either one or two alleles (ii) An absence or decrease in C7 expression at their DEJ when compared to that of normal human skin.

Exclusion Criteria:

(i) Pre-existing renal or auditory impairment (ii) Allergies to aminoglycosides or sulfate compounds (iii) Pregnancy (iv) Exposure to gentamicin within the past 6 weeks.