Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer

NCT ID: NCT00533572

Last Updated: 2015-05-27

Basic Information

• Recruitment Status: TERMINATED
• Total Enrollment: 1 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2007-08-31
• Study Completion Date: 2008-08-31

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.

Conditions

Epidermolysis Bullosa Dystrophica

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Eligibility Criteria

Inclusion Criteria

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.

Exclusion Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Stanford University

OTHER

Sponsor Role: lead

Responsible Party

Alfred Lane

Professor of Dermatology and of Pediatricsy, Emeritus

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Alfred T Lane

Role: PRINCIPAL_INVESTIGATOR

Stanford University

Locations

Stanford University School of Medicine

Stanford, California, United States

Countries

United States

Other Identifiers

8557

Identifier Type: -

Identifier Source: secondary_id

97822

Identifier Type: -

Identifier Source: org_study_id