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Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2016 by Stanford University
Information provided by (Responsible Party):
Jean Yuh Tang, Stanford University Identifier:
First received: November 20, 2009
Last updated: March 17, 2016
Last verified: March 2016
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.

Epidermolysis Bullosa Dystrophica

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

Resource links provided by NLM:

Further study details as provided by Stanford University:

Primary Outcome Measures:
  • 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

Estimated Enrollment: 30
Study Start Date: November 2009
Estimated Study Completion Date: September 2016
Estimated Primary Completion Date: September 2016 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   Child, Adult, Senior
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.

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01019148

Contact: Kylie Loutit, BS (650) 721-7166

United States, California
Stanford University School of Medicine Recruiting
Stanford, California, United States, 94305
Contact: Kylie Loutit, BS    650-721-7166   
Principal Investigator: Jean Tang, MD, PhD         
Sub-Investigator: Paul A. Khavari, MD         
Sub-Investigator: M. Peter Marinkovich, MD         
Sub-Investigator: Anthony Oro, MD         
Sub-Investigator: Marius Wernig, MD         
Sponsors and Collaborators
Stanford University
Principal Investigator: Jean Tang, MD, PhD Stanford University
  More Information

Responsible Party: Jean Yuh Tang, Associate Professor, Stanford University Identifier: NCT01019148     History of Changes
Other Study ID Numbers: SU-11182009-4402
Study First Received: November 20, 2009
Last Updated: March 17, 2016

Additional relevant MeSH terms:
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 processed this record on May 22, 2017