Gentamicin for RDEB
Completed · Phase 1/Phase 2
Conditions studied: Recessive Dystrophic Epidermolysis Bullosa
In brief
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease caused by mutations in the COL7A1 gene that encodes for type VII collagen (C7), the major component of anchoring fibrils (AFs), structures that mediate epidermal-dermal adherence. Thirty percent of RDEB patients have nonsense mutations. The investigators recently demonstrated in 5 such patients that intradermal and topical gentamicin induced "read-through" of their nonsense mutations and created robust and sustained new C7 and AFs at the dermal-epidermal junction (DEJ) of their skin and also stimulated wound closure and reduced new blister formation. No untoward side effects occurred. Herein, the investigators propose evaluating the safety and efficacy of intravenous gentamicin in these patients. In theory, this intravenous administration has the possibility of treating simultaneously all of the patients' skin wounds. The investigators also propose optimizing the concentration and manner of delivery of topical gentamicin. The unambiguous milestones will be increased C7 and AFs in the patients' DEJ, improved EB Disease Activity Scores, and absence of significant gentamicin side effects.
Key facts
- Study ID
- NCT03012191
- Run by
- University of Southern California
- People needed
- 6
- Starts
- 2017-02-02
- Expected to finish
- 2018-08-31
- Last updated by the study team
- 2019-07-23
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- (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.
You may not qualify if…
- (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.
Where it is running
- University of Southern California — Los Angeles, California, United States
Full record on ClinicalTrials.gov
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