Gentamicin for RDEB
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03012191|
Recruitment Status : Completed
First Posted : January 6, 2017
Results First Posted : July 23, 2019
Last Update Posted : July 23, 2019
|Condition or disease||Intervention/treatment||Phase|
|Recessive Dystrophic Epidermolysis Bullosa||Drug: Gentamicin Sulfate||Phase 1 Phase 2|
Show Detailed Description
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||6 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations|
|Actual Study Start Date :||February 2, 2017|
|Actual Primary Completion Date :||May 5, 2018|
|Actual Study Completion Date :||August 31, 2018|
Topical gentamicin; Topical gentamicin with microneedle roller assistance; IV gentamicin. While the intervention is the same drug, the topical gentamicin is compounded into a 0.5% ointment and the IV gentamicin is prepared to 7.5 mg/kg body weight and administered over a 30 minutes.
Drug: Gentamicin Sulfate
Participants will be divided into three cohorts: topical gentamicin; Topical gentamicin with microneedle roller assistance; IV gentamicin. While the intervention is the same drug, the topical gentamicin is compounded into a 0.5% ointment and the IV gentamicin is prepared to 7.5 mg/kg body weight and administered over a 30 minutes.
Other Name: Gentamicin, Garamycin
- Increased Expression of Full-length Type VII Collagen as Assessed by Immunofluorescence [ Time Frame: 6 months ]The expression of type VII collagen at the patients' dermal-epidermal junction was assessed by immunofluorescence (IF) using an antibody specific to type VII collagen. The expression was semi-quantitated using NIH Image J software. The IF expression of type VII collagen was assessed before treatment and at one and three months after treatment. At each assessment time point, type VII collagen expression was also measured in normal human skin. The expression of type VII collagen was then expressed as a percentage of the type VII collagen expressed in normal human skin.
- Number of Participants With New or Increased Numbers of Anchoring Fibrils as Assessed by Immuno-electron Microscopy [ Time Frame: 6 months ]The expression of anchoring fibril structures at the patients' dermal-epidermal junction was assessed by immuno-electron microscopy (IEM) using an antibody specific to type VII collagen. The IEM expression of anchoring fibrils was assessed before treatment and at one and three months after treatment. At each assessment time point, anchoring fibrils were compared with normal human skin. Baseline pre-treatment and one and three month post-treatment sites were compared for the presence of anchoring fibrils after gentamicin treatment (or increase if anchoring fibrils were detected at baseline in patients).
- Number of Participants With Absence of Gentamicin Side Effects Especially the Detection of Any Ototoxicity or Nephrotoxicity [ Time Frame: 6 months ]Prolonged exposure to systemic gentamicin is associated with ototoxicity and nephrotoxicity. Specific tests (creatinine clearance and gold-tone audiometry) are performed throughout the study in order to detect any drug-specific adverse events as a result of systemic exposure to gentamicin. Additionally, we test patient skin and serum throughout the study to look for increase of autoantibodies to C7. Since some of these patients may have never had C7 expressed in their bodies, gentamicin-induced C7 may cause in auto-immune response.
- Improved EBDASI Scores [ Time Frame: 6 months ]EBDASI - Epidermolysis Bullosa Disease Activity and Scarring Index Scale - Minimum (0) to Maximum (506) A lower score indicates a better outcome (less disease activity and/or damage) A clinical tool for evaluating the disease activity and damage associated with bullous patients. To be administered by a licensed dermatologist.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03012191
|United States, California|
|University of Southern California|
|Los Angeles, California, United States, 90033|
|Principal Investigator:||David Woodley, MD||University of Southern California Department of Dermatology|