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Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

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ClinicalTrials.gov Identifier: NCT01019148
Recruitment Status : Recruiting
First Posted : November 25, 2009
Last Update Posted : March 22, 2021
Sponsor:
Information provided by (Responsible Party):
Jean Yuh Tang, Stanford University

Study Description
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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
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 Design
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Study Type : Observational
Estimated Enrollment : 70 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa
Actual Study Start Date : November 10, 2009
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

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Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa [ Time Frame: 4 years ]
    Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa for future studies


Biospecimen Retention:   Samples With DNA
Skin biopsies, serum

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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.
Criteria

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
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To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01019148


Contacts
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Contact: Irene Bailey-Healy (650) 721-7149 baileyhi@stanford.edu
Contact: Nicki Harris nharris6@stanford.edu

Locations
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United States, California
Stanford University School of Medicine Recruiting
Stanford, California, United States, 94305
Contact: Irene Bailey-Healy    650-721-7149    baileyhi@stanford.edu   
Principal Investigator: Jean Tang, MD, PhD         
Sub-Investigator: M. Peter Marinkovich, MD         
Sub-Investigator: Anthony Oro, MD         
Sponsors and Collaborators
Stanford University
Investigators
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Principal Investigator: Jean Tang, MD, PhD Stanford University
More Information
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Responsible Party: Jean Yuh Tang, Professor, Stanford University
ClinicalTrials.gov Identifier: NCT01019148    
Other Study ID Numbers: SU-11182009-4402
First Posted: November 25, 2009    Key Record Dates
Last Update Posted: March 22, 2021
Last Verified: March 2021
Additional relevant MeSH terms:
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Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
 Genetic Diseases, Inborn
Skin Diseases
Skin Diseases, Vesiculobullous
Collagen Diseases
Connective Tissue Diseases