Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB)

• Register: ClinicalTrials.gov
• Last refreshed on: 14 November 2022
• Main ID: NCT03392909
• Date of registration: 02/01/2018
• Prospective Registration: Yes
• Primary sponsor: University of Southern California
• Public title: Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB)
• Scientific title: Restoration of Full-Length Type VII Collagen in RDEB Patients With Nonsense Mutations After Intravenous Gentamicin Treatment
• Date of first enrolment: July 5, 2018
• Target sample size: 9
• Recruitment status: Recruiting
• URL: https://clinicaltrials.gov/show/NCT03392909
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 1/Phase 2

Countries of recruitment

United States

Contacts

• Name: Mei Chen, Ph.D
• Affiliation: Professor, University of Southern California

• Name: David T Woodley, MD

• Name: David Woodley, MD

• Name: David T. Woodley, MD
• Affiliation: Professor, University of Southern California

Key inclusion & exclusion criteria

Inclusion Criteria:

- 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 Criteria:

- 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.



Age minimum: 7 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Recessive Dystrophic Epidermolysis Bullosa

Intervention(s)

Drug: Gentamicin

Primary Outcome(s)

Generation of anchoring fibrils [Time Frame: 6 months]

Absence of gentamicin side effects [Time Frame: 6 months]

Full-length type VII collagen expression [Time Frame: 6 months]

Secondary Outcome(s)

Improved Quality of Life score [Time Frame: 6 months]

Improved Disease Activity scores [Time Frame: 6 months]

Secondary ID(s)

HS-17-00995

Source(s) of Monetary Support

Please refer to primary and secondary sponsors