Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by genetic mutations in the gene for type VII collagen. Patients with RDEB develop large, severely painful blisters and open wounds from minor trauma to their skin. We are screening subjects with RDEB to evaluate characteristics of the subjects and their cells in order to develop new strategies of therapy and determine whether subjects could be candidates for treatment studies.

Study Overview

• Status: Recruiting
• Conditions: Epidermolysis Bullosa Dystrophica

Detailed Description

We will obtain a detailed medical history and will perform a skin examination and brief physical exam. Photographs may be taken. We will ask questions about the size and duration wounds.

LAB TESTS We will draw blood to determine overall health status to include Hepatitis B, Hepatitis C, and Human Immunodeficiency Virus (HIV) testing. Genetic testing may also be performed.

BIOPSIES Biopsies may be collected to check for Collagen 7 and for antibodies to Collagen 7.

Based on the results obtained, it may be possible to identify patients who would qualify to participate in current or future clinical trials.

• Study Type: Observational
• Enrollment (Estimated): 70

Contacts and Locations

• Study Contact: Name: Irene Bailey-Healy; Phone Number: (650) 721-7149; Email: baileyhi@stanford.edu

Study Locations

• United States
  • California
    • Stanford, California, United States, 94305
      • Recruiting
      • Stanford University School of Medicine
      • Contact: Irene Bailey-Healy; Phone Number: (650) 721-7149; Email: baileyhi@stanford.edu
      • Principal Investigator: Jean Tang, MD, PhD
      • Sub-Investigator: M. Peter Marinkovich, MD
      • Sub-Investigator: Anthony Oro, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients diagnosed with RDEB by a local dermatologist who are medically stable enough to travel to Stanford University Medical Center. Patients should also be at least 7 years of age.

Description

Inclusion Criteria:

• Clinical diagnosis of RDEB by local dermatologist
• 7 years of age or older

Exclusion Criteria:

-Medical instability limiting ability to travel to Stanford University Medical Center

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa	Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa for future studies	10 years

Collaborators and Investigators

• Sponsor: Stanford University
• Investigators: Principal Investigator: Jean Tang, MD, PhD, Stanford University

Study record dates

Study Major Dates

• Study Start (Actual): November 10, 2009
• Primary Completion (Estimated): December 31, 2029
• Study Completion (Estimated): December 31, 2029

Study Registration Dates

• First Submitted: November 20, 2009
• First Submitted That Met QC Criteria: November 20, 2009
• First Posted (Estimated): November 25, 2009

Study Record Updates

• Last Update Posted (Actual): April 24, 2026
• Last Update Submitted That Met QC Criteria: April 21, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Connective Tissue Diseases; Skin Diseases; Congenital Abnormalities; Skin Diseases, Genetic; Skin Abnormalities; Skin Diseases, Vesiculobullous; Collagen Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica
• Other Study ID Numbers: SU-11182009-4402