Establishment of the National Epidermolysis Bullosa Registry

This study has been completed.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Rockefeller University
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: February 24, 2000
Last updated: June 23, 2005
Last verified: July 2004

OBJECTIVES: I. Develop a large roster of well-characterized patients with various forms of inherited and acquired epidermolysis bullosa (EB).

II. Generate a large data bank of clinical, historical, and genetic information concerning these patients.

III. Accumulate donated tissue specimens, including selected cells and DNA, from selected patient subsets for the establishment of permanent tissue cell banks.

IV. Promote and facilitate research in EB.

Epidermolysis Bullosa

Study Type: Observational
Study Design: Observational Model: Natural History
Time Perspective: Longitudinal

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Study Start Date: September 1986
Detailed Description:

PROTOCOL OUTLINE: Patients are enrolled by mail or clinic visit at 1 of 4 clinical centers. Clinical, epidemiological, and laboratory data are collected.

Medical and family histories are obtained in a detailed interview in person, by phone, or by mail. Diagnostic studies to confirm the type of epidermolysis bullosa are performed as indicated. A pedigree chart is completed on the first affected family member entered.

Selected patients are followed at least biannually. A study duration of approximately 10 years is anticipated.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • Clinical diagnosis of epidermolysis bullosa
  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: NCT00004761

Sponsors and Collaborators
National Center for Research Resources (NCRR)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Rockefeller University
Study Chair: James G. Krueger Rockefeller University
  More Information

Lin AN, Carter DM: Epidermolysis Bullosa: Basic and Clinical Aspects. New York: Springer Verlag, 1992. Identifier: NCT00004761     History of Changes
Other Study ID Numbers: 199/11706  RU-0170195 
Study First Received: February 24, 2000
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
dermatologic disorders
epidermolysis bullosa
genetic diseases and dysmorphic syndromes
rare disease

Additional relevant MeSH terms:
Epidermolysis Bullosa
Congenital Abnormalities
Genetic Diseases, Inborn
Skin Abnormalities
Skin Diseases
Skin Diseases, Genetic
Skin Diseases, Vesiculobullous processed this record on May 26, 2016