Ignite Creation Date:
2024-05-06 @ 10:58 AM
Last Modification Date:
2024-10-26 @ 12:38 PM
Study NCT ID:
NCT03392909
Status:
RECRUITING
Last Update Posted:
2022-11-03
First Post:
2018-01-02
Brief Title:
Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa RDEB
Sponsor:
University of Southern California
Organization:
University of Southern California
Study Overview
Official Title:
Restoration of Full-Length Type VII Collagen in RDEB Patients With Nonsense Mutations After Intravenous Gentamicin Treatment
Status:
RECRUITING
Status Verified Date:
2022-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
True
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
False
Is an FDA AA801 Violation?:
None