Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Epidermolysis Bullosa Dystrophica. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa [Time frame: 10 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
United States · 1 center
- Stanford University School of Medicine — Stanford
Identifiers
NCT: NCT01019148 · SU-11182009-4402