Topical Gentamicin Nonsense Suppression Therapy of EB

Brief Title

Topical Gentamicin Nonsense Suppression Therapy of EB

Official Title

TOPICAL GENTAMICIN TREATMENT OF PATIENTS WITH EPIDERMOLYSIS BULLOSA DUE TO NONSENSE MUTATIONS

Brief Summary

      The overall purpose of this study is to address whether topical gentamicin therapy is an
      effective and feasible treatment. Specifically, we will investigate the effect of
      non-intensive treatment (once daily or every other day) on skin protein expression, as well
      as quantify the effect on wound healing in patients with EB caused by PSC (part A).
      Furthermore, we will address in vitro whether gentamicin restores protein expression of genes
      affected by SSM in fibroblasts derived from skin biopsies obtained from patients with EB
      caused by SSM (part B). If these in vitro experiments yield positive results, the patients
      donating the cells will be offered to enter part A of this study. The overall duration of
      part A in this study is planned to be 18 weeks per patients and consists of a 6 weeks
      treatment period followed by a 12 week follow up period. Each patient will attend 3 study
      visits: at week 0, week 6 and week 18. All patients will be included within a time period of
      12 months. The overall duration of part B will be up to 8 weeks per patients of which 4-7
      weeks are spent to prepare fibroblasts obtained from skin biopsies. Then 5 days of in vitro
      intervention and subsequent analysis follows. Altogether, the duration of the GENTELBULL
      study will be 78 weeks or less.
    

Study Phase

Phase 1/Phase 2

Study Type

Interventional

Primary Outcome

Wound size reduction

Secondary Outcome

 Healed skin robustness

Condition

Epidermolysis Bullosa

Intervention

Gentamicin Sulfate

Study Arms / Comparison Groups

 Single arm

Description:  Each patient serves as its own control: one half is treated with the study treatment in addition to standard wound therapy, the other half receives standard wound therapy only.

Publications

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

Recruitment Status

Drug

Estimated Enrollment

6

Start Date

December 1, 2020

Completion Date

October 1, 2021

Primary Completion Date

May 1, 2021

Eligibility Criteria

        Inclusion Criteria:

          1. The patient has EB caused by nonsense mutation

          2. The patient has a symmetrical distribution of wounds which allows for wounds on one
             side of the body to serve as control wounds, while study therapy is applied to the
             other side.

          3. The patient (if an adult) or parent(s)/guardian(s) is capable of giving signed
             informed consent as described in Appendix 1 which includes compliance with the
             requirements and restrictions listed in the informed consent form (ICF) and in this
             protocol.

          4. Women of childbearing potential must use a highly effective contraception method

        Exclusion Criteria:

          1. Known contact allergy against gentamicin sulfate or other ingredients in the ointment

          2. Known intolerance to gentamicin sulfate of any sort

          3. Moderate or severely reduced kidney function (eGFR <45)

          4. Use other experimental therapy against EB

          5. Receiving systemic aminoglycosides during the last 3 months

          6. The patient uses muscle relaxant drug(s)
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

, 99625945, [email protected]

Location Countries

Norway

Location Countries

Norway

NCT ID

NCT04644627

Organization ID

105989

Responsible Party

Principal Investigator

Study Sponsor

Oslo University Hospital

Study Sponsor

, , 

Verification Date

November 2020