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RecruitingNCT01019148Updated Apr 24, 2026

Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

An observational study in Epidermolysis Bullosa Dystrophica, sponsored by Stanford University. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-04-24.

Sponsored by Stanford University · Observational

Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
70
Sex
All
01

Study 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.

Read the 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.

02

Conditions studied

  • Epidermolysis Bullosa Dystrophica
03

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
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.

Inclusion criteria

  • Clinical diagnosis of RDEB by local dermatologist
  • 7 years of age or older

Exclusion criteria

Exclusion Criteria:

-Medical instability limiting ability to travel to Stanford University Medical Center

04

Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
70 participants (estimated)
Biospecimen retention
Samples with dna
05

What researchers measure

Primary outcomes

  1. Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa

    Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa for future studies

    Time frame: 10 years

06

Study locations

1 of 1 sites recruiting
  • Stanford University School of Medicine
    Stanford, California 94305, United States
    • Irene Bailey-Healy · Contact · baileyhi@stanford.edu · (650) 721-7149
    • Jean Tang, MD, PhD · Principal investigator
    • M. Peter Marinkovich, MD · Sub investigator
    • Anthony Oro, MD · Sub investigator
    Recruiting
07

Registry details

Key details

Study ID
NCT01019148
Lead sponsor
Stanford University
Responsible party
Jean Yuh Tang (Professor, Stanford University) — Principal investigator
First posted
Nov 25, 2009
Start date
Nov 10, 2009
Primary completion
Dec 31, 2029 (estimated)
Completion
Dec 31, 2029 (estimated)
Last update
Apr 24, 2026

Study contacts

Irene Bailey-Healy
Contact
baileyhi@stanford.edu
(650) 721-7149
Jean Tang, MD, PhD
principal investigator · Stanford University
View the source record on ClinicalTrials.gov ↗

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