Abstract

The purpose of this contract is to establish a National Epidermolysis Bullosa Registry aimed at searching for the basic defect, improving methods of diagnosis, and developing effective methods in treatment and prevention. The Contractor will establish and operate a Clinical Coordinating Center under the Registry. The Registry will (1) develop a roster of well characterized patients with different forms of epidermolysis bullosa; (2) determine with accuracy and precision the incidence and prevalence of disease; (3) assess disease distribution geographically to search for clusters and patterns, and assess the societal and economic impact of the disease; (4) develop a pool of patients of the same genetic type for a wide variety of studies on pathogenesis and genetics of E.B.; and (5) foster well designed and well executed clinical trials of new therapeutic interventions in carefully selected groups of patients with one or another form of the disease.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Research and Development Contracts (N01)
Project #
N01AR022200-000
Application #
2298302
Study Section
Project Start
1992-05-01
Project End
1997-04-30
Budget Start
1992-05-01
Budget End
1993-04-30
Support Year
Fiscal Year
1992
Total Cost
Indirect Cost

  Institution

Name
University of North Carolina Chapel Hill
Department
Dermatology
Type
Schools of Medicine
DUNS #
078861598
City
Chapel Hill
State
NC
Country
United States
Zip Code
27599

  Publications

Fine, Jo-David; Johnson, Lorraine B; Weiner, Madeline et al. (2009) Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol 60:203-11
Fine, Jo-David; Johnson, Lorraine B; Weiner, Madeline et al. (2008) Gastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National Epidermolysis Bullosa Registry. J Pediatr Gastroenterol Nutr 46:147-58
Fine, J-D; Hall, M; Weiner, M et al. (2008) The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol 159:677-82
Fine, Jo-David; Johnson, Lorraine B; Weiner, Madeline et al. (2008) Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr 152:276-80
Douglas, Susan A; Yeung, Phil; Daudia, Anurag et al. (2007) Spatial hearing disability after acoustic neuroma removal. Laryngoscope 117:1648-51
Fine, Jo-David; Johnson, Lorraine B; Weiner, Madeline et al. (2007) Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry. Laryngoscope 117:1652-60
Fine, J-D; Johnson, L B; Weiner, M et al. (2005) Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size. Br J Dermatol 152:1009-14
Fine, J-D; Johnson, L B; Weiner, M et al. (2005) Pseudosyndactyly and musculoskeletal contractures in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry, 1986-2002. J Hand Surg Br 30:14-22
Fine, Jo-David; Johnson, Lorraine B; Weiner, Madeline et al. (2004) Inherited epidermolysis bullosa and the risk of death from renal disease: experience of the National Epidermolysis Bullosa Registry. Am J Kidney Dis 44:651-60
Fine, J-D; Johnson, L B; Weiner, M et al. (2004) Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa. Clin Exp Dermatol 29:122-7

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