Brief Title
Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa
Official Title
Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa
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.
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
Primary Outcome
Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa
Condition
Epidermolysis Bullosa Dystrophica
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
70
Start Date
November 10, 2009
Completion Date
December 2025
Primary Completion Date
December 2025
Eligibility 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
Gender
All
Ages
N/A - N/A
Accepts Healthy Volunteers
No
Contacts
Jean Tang, MD, PhD, (650) 721-7149, [email protected]
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT01019148
Organization ID
SU-11182009-4402
Responsible Party
Principal Investigator
Study Sponsor
Stanford University
Study Sponsor
Jean Tang, MD, PhD, Principal Investigator, Stanford University
Verification Date
March 2021