Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer

Terminated

• Conditions: Epidermolysis Bullosa Dystrophica

• Registration Number: NCT00533572
• Lead Sponsor: Stanford University

Brief Summary

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe inherited blistering skin disease caused by absence of type VII collagen. Patients with RDEB develop large, severly painful blisters and open wounds from minor trauma to their skin. In the future, we hope to start a gene transfer study on a specific group of RDEB subjects and we are screening subjects for that potential trial now.

Detailed Description

This study is a preparation for a gene transfer trial. In the gene transfer trial, we will transfect autologous RDEB keratinocytes with a type VII collagen containing retrovirus vector. We then plan to graft the genetically engineered and corrected autologous keratinocytes back on to wounds of the RDEB subject. We expect the grafts to attach as normal keratinocytes and replace the damaged skin with skin that is able to make type VII collagen and anchor normally to the dermis. We are trying to define the number of subjects 18 or older who meet the criteria for the gene transfer trial. We are offering the subjects the opportunity to be evaluated for the potential trial.

Study Timeline

• Study Start: 2007-08
• Study First Submitted: 2007-09-20
• Study First Submitted QC: 2007-09-20
• Study First Posted: 2007-09-21
• Primary Completion: 2008-08
• Study Completion: 2008-08
• Status Verified: 2015-05
• Last Update Submitted: 2015-05-22
• Last Update Posted: 2015-05-27

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 1

Inclusion Criteria

1. Clinical diagnosis of RDEB by local dermatologist 2. 18 years of age or more and willing to give consent 3. Estimated to have at least 100 to 200 sq. cm. areas of open erosions on the trunk or extremities suitable for skin grafting 4. Ability to undergo adequate anesthesia to allow grafting procedures to take place 5. Parents are alive, do not have EB, and they are willing to give consent for genetic testing

Exclusion Criteria

1. Medical instability limiting ability to travel to Stanford University Medical Center 2. Participation in another clinical trial without prior approval 3. The presence of medical illness expected to complicate participation and/or compromise the safety of this technique

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Disease documentation	1 year	Documentation of disease
documentation of disease	1 year	documentation of disease

Trial Locations

Locations (1)

Stanford University School of Medicine; 🇺🇸 Stanford, California, United States