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Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

Sponsor
Stanford University (Other)
Overall Status
Recruiting
CT.gov ID
NCT01019148
Collaborator
(none)
70
Enrollment
1
Location
192.7
Anticipated Duration (Months)
0.4
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Anticipated Enrollment :
    70 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Prospective
    Official Title:
    Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa
    Actual Study Start Date :
    Nov 10, 2009
    Anticipated Primary Completion Date :
    Dec 1, 2025
    Anticipated Study Completion Date :
    Dec 1, 2025

    Outcome Measures

    Primary Outcome Measures

    1. Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa [4 years]

      Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa for future studies

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Stanford University School of Medicine Stanford California United States 94305

    Sponsors and Collaborators

    • Stanford University

    Investigators

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

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Jean Yuh Tang, Professor, Stanford University
    ClinicalTrials.gov Identifier:
    NCT01019148
    Other Study ID Numbers:
    • SU-11182009-4402
    First Posted:
    Nov 25, 2009
    Last Update Posted:
    Mar 22, 2021
    Last Verified:
    Mar 1, 2021
    Additional relevant MeSH terms:
    Epidermolysis Bullosa
    Epidermolysis Bullosa Dystrophica

    Study Results

    No Results Posted as of Mar 22, 2021