Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB)

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Brief Title

Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Official Title

Restoration of Full-Length Type VII Collagen in RDEB Patients With Nonsense Mutations After Intravenous Gentamicin Treatment

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 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 milestones will be increased C7 and AFs in the patients' DEJ,
      improved EB Disease Activity Scores, and absence of gentamicin side effects.
    


Study Phase

Phase 1/Phase 2

Study Type

Interventional


Primary Outcome

Full-length type VII collagen expression

Secondary Outcome

 Improved Disease Activity scores

Condition

Recessive Dystrophic Epidermolysis Bullosa

Intervention

Gentamicin

Study Arms / Comparison Groups

 Intravenous Gentamicin
Description:  Intravenous gentamicin (7.5 mgs/kg) daily for for either 14 days and then stopped or twice weekly for three months and then stopped.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Drug

Estimated Enrollment

9

Start Date

July 5, 2018

Completion Date

July 2021

Primary Completion Date

June 2021

Eligibility 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.
      

Gender

All

Ages

7 Years - N/A

Accepts Healthy Volunteers

No

Contacts

David T. Woodley, MD, 626-533-6028, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT03392909

Organization ID

HS-17-00995


Responsible Party

Principal Investigator

Study Sponsor

University of Southern California


Study Sponsor

David T. Woodley, MD, Principal Investigator, Professor, University of Southern California


Verification Date

April 2020