Recruiting

NCT Number: NCT01019148

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.

Recruiting

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Key information

Conditions

Epidermolysis Bullosa Dystrophica Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Epidermolysis Bullosa Genetic Diseases, Inborn Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin Diseases, Vesiculobullous Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Stanford University School of Medicine

Stanford, California, 94305, United States

Location status: Recruiting

Location contact

Anthony Oro, MD

SUB_INVESTIGATOR

Irene Bailey-Healy

CONTACT

[email protected]

(650) 721-7149

Jean Tang, MD, PhD

PRINCIPAL_INVESTIGATOR

M. Peter Marinkovich, MD

SUB_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa

Time frame: 10 years

Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa for future studies

Study contacts

Contact information is provided by the study sponsor or research team.

Irene Bailey-Healy

CONTACT

[email protected]

(650) 721-7149

Sponsors and collaborators

Lead sponsor

Stanford University

Other

Registry information

Important dates

Study start: 2009
Primary completion: 2029
Study completion: 2029
First posted: Nov 25, 2009
Registry last updated: Apr 24, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting