Status:
UNKNOWN
Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Lead Sponsor:
University of Southern California
Conditions:
Recessive Dystrophic Epidermolysis Bullosa
Eligibility:
All Genders
7+ years
Phase:
PHASE1
PHASE2
Brief Summary
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 compone...
Eligibility Criteria
Inclusion
- Provision of signed and dated informed consent form
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Male or female, aged 7 and up can participate in the 14 day IV gentamicin trial. Male or female, aged 18 and up can participate in the 3 month IV gentamicin trial.
- Been diagnosed with recessive dystrophic epidermolysis bullosa (RDEB) and with a nonsense mutation in the COL7A1 gene.
- Immunofluorescence evaluation of skin biopsies reveals absence or decreased intensity of C7 expression at their DEJ (dermal epidermal junction) compared with normal human skin biopsies.
- Cultured fibroblasts from patient skin synthesize and secrete full-length, 290kDa C7 alpha chains in the presence of supplemented gentamicin (400 μg/ml in culture).
- Ability to sit or lie down for over 30 minutes for IV infusions. For those in the 3 month trial, to be willing to continue treatment at home under the supervision of licensed and trained infusion nurses.
Exclusion
- Recent exposure to gentamicin within the past 6 weeks.
- Pre-existing known auditory impairment.
- Pre-existing known renal impairment.
- Pre-existing known allergies to aminoglycosides or sulfate compounds.
- Pregnancy or lactation
- Current use of medications with known ototoxicity or nephrotoxicity.
- Current enrollment in another experimental clinical trial involving systemic treatment with C7 or C7 producing products for the treatment of RDEB.
Key Trial Info
Start Date :
July 5 2018
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 1 2023
Estimated Enrollment :
9 Patients enrolled
Trial Details
Trial ID
NCT03392909
Start Date
July 5 2018
End Date
December 1 2023
Last Update
November 3 2022
Active Locations (1)
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1
University of Southern California
Los Angeles, California, United States, 90033