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Trial record 10 of 24 for:    epidermolysis bullosa | Recruiting, Not yet recruiting, Available Studies

Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations

This study is currently recruiting participants.
See Contacts and Locations
Verified January 2017 by David Woodley, University of Southern California
Sponsor:
Information provided by (Responsible Party):
David Woodley, University of Southern California
ClinicalTrials.gov Identifier:
NCT03012191
First received: January 4, 2017
Last updated: January 5, 2017
Last verified: January 2017
  Purpose
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 investigators also propose optimizing the concentration and manner of delivery of topical gentamicin. The unambiguous milestones will be increased C7 and AFs in the patients' DEJ, improved EB Disease Activity Scores, and absence of significant gentamicin side effects.

Condition Intervention Phase
Recessive Dystrophic Epidermolysis Bullosa Drug: Gentamicin Sulfate Phase 1 Phase 2

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment

Resource links provided by NLM:


Further study details as provided by David Woodley, University of Southern California:

Primary Outcome Measures:
  • Increased expression of full-length type VII collagen as assessed by immunofluorescence [ Time Frame: 6 months ]
  • Generation of new anchoring fibrils as assessed by immuno-electron microscopy [ Time Frame: 6 months ]
  • Absence of gentamicin side effects especially the detection of any ototoxicity or nephrotoxicity [ Time Frame: 6 months ]

Secondary Outcome Measures:
  • Improved epidermolysis bullosa Disease Activity Scores [ Time Frame: 6 months ]

Estimated Enrollment: 7
Study Start Date: January 2017
Estimated Primary Completion Date: January 2018 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Gentamicin Drug: Gentamicin Sulfate

  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

Patients with recessive dystrophic epidermolysis bullosa (RDEB) who have bona fide nonsense mutations in the COL7A1 gene as assessed by genotyping-

Exclusion Criteria:

RDEB patients who do not have a nonsense mutation in their COL7A1 gene -

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT03012191

Contacts
Contact: David Woodley, MD 3238650956 dwoodley@usc.edu
Contact: Mei Chen, Ph.D 3238650621 chenm@usc.edu

Locations
United States, California
University of Southern California Recruiting
Los Angeles, California, United States, 90033
Contact: David Woodley, MD    323-865-0956    dwoodley@med.usc.edu   
Contact: Mei Chen, Ph.D    3238650621    chenm@usc.edu   
Sponsors and Collaborators
University of Southern California
  More Information

Responsible Party: David Woodley, Professor, University of Southern California
ClinicalTrials.gov Identifier: NCT03012191     History of Changes
Other Study ID Numbers: HS-16-00788
Study First Received: January 4, 2017
Last Updated: January 5, 2017

Additional relevant MeSH terms:
Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Skin Diseases, Vesiculobullous
Collagen Diseases
Connective Tissue Diseases
Gentamicins
Anti-Bacterial Agents
Anti-Infective Agents
Protein Synthesis Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action

ClinicalTrials.gov processed this record on August 22, 2017