A L Bruckner1,2, D L Fairclough3, J A Feinstein2, I Lara-Corrales4, A W Lucky5, J Tolar6, E Pope4. 1. Department of Dermatology, University of Colorado School of Medicine, Aurora, CO, U.S.A. 2. Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, U.S.A. 3. Department of Biostatics and Informatics, Colorado School of Public Health, University of Colorado Denver, Aurora, CO, U.S.A. 4. Section of Dermatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada. 5. The Epidermolysis Bullosa Center, Division of General and Community Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH, U.S.A. 6. Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, U.S.A.
Abstract
BACKGROUND: Epidermolysis bullosa (EB) is a group of rare and currently incurable genetic blistering disorders. As more pathogenic-driven therapies are being developed, there is an important need for EB-specific validated outcomes measures designed for use in clinical trials. OBJECTIVES: To test the reliability and construct validity of an instrument for scoring clinical outcomes of research for EB (iscorEB), a new combined clinician- and patient-reported outcomes tool. METHODS: We conducted an observational study consisting of independent 1-day assessments (six assessors) at two academic hospitals. The assessments consisted of iscorEB clinician (iscorEB-c), Birmingham Epidermolysis Bullosa Severity (BEBS) and global severity assessment for physicians; and iscorEB patient (iscorEB-p), Quality of Life evaluation in Epidermolysis Bullosa and Children's Dermatology Life Quality Index for patients. Construct validity and intraclass correlation coefficients (ICCs) for interobserver, intraobserver and test-retest reliability were calculated. RESULTS: Overall, 31 patients with a mean age of 19·5 years (1·8-45·2) were included. Disease severity was mild in 42% of cases, moderate in 29% and severe in 29%. The interobserver ICC was 0·96 for both the clinician-reported section of iscorEB-c and BEBS. The ICC for intraobserver reliability was 0·91 and 0·70 for the skin and mucosal domains of iscorEB-c, respectively. Cronbach's alpha for iscorEB-c was 0·89. The test-retest reliability of iscorEB-p was 0·97 and Cronbach's alpha was 0·84. The clinical score differentiated between subjects with mild, moderate and severe disease, and both clinical and patient subscores discriminated between recessive dystrophic EB and other EB subtypes. CONCLUSIONS: iscorEB has robust reliability and construct validity, including strong ability to distinguish EB types and severities. Further studies are planned to test its responsiveness to change.
BACKGROUND: Epidermolysis bullosa (EB) is a group of rare and currently incurable genetic blistering disorders. As more pathogenic-driven therapies are being developed, there is an important need for EB-specific validated outcomes measures designed for use in clinical trials. OBJECTIVES: To test the reliability and construct validity of an instrument for scoring clinical outcomes of research for EB (iscorEB), a new combined clinician- and patient-reported outcomes tool. METHODS: We conducted an observational study consisting of independent 1-day assessments (six assessors) at two academic hospitals. The assessments consisted of iscorEB clinician (iscorEB-c), Birmingham Epidermolysis Bullosa Severity (BEBS) and global severity assessment for physicians; and iscorEB patient (iscorEB-p), Quality of Life evaluation in Epidermolysis Bullosa and Children's Dermatology Life Quality Index for patients. Construct validity and intraclass correlation coefficients (ICCs) for interobserver, intraobserver and test-retest reliability were calculated. RESULTS: Overall, 31 patients with a mean age of 19·5 years (1·8-45·2) were included. Disease severity was mild in 42% of cases, moderate in 29% and severe in 29%. The interobserver ICC was 0·96 for both the clinician-reported section of iscorEB-c and BEBS. The ICC for intraobserver reliability was 0·91 and 0·70 for the skin and mucosal domains of iscorEB-c, respectively. Cronbach's alpha for iscorEB-c was 0·89. The test-retest reliability of iscorEB-p was 0·97 and Cronbach's alpha was 0·84. The clinical score differentiated between subjects with mild, moderate and severe disease, and both clinical and patient subscores discriminated between recessive dystrophic EB and other EB subtypes. CONCLUSIONS: iscorEB has robust reliability and construct validity, including strong ability to distinguish EB types and severities. Further studies are planned to test its responsiveness to change.
Authors: James A Feinstein; Purevsuren Jambal; Kathleen Peoples; Anne W Lucky; Phuong Khuu; Jean Y Tang; Irene Lara-Corrales; Elena Pope; Karen Wiss; Kristen P Hook; Laura E Levin; Kimberly D Morel; Amy S Paller; Catherine C McCuaig; Julie Powell; Lawrence F Eichenfield; Harper Price; Moise L Levy; Lawrence A Schachner; John C Browning; Susan Bayliss; Marla Jahnke; Tor Shwayder; Sharon A Glick; Anna L Bruckner Journal: JAMA Dermatol Date: 2019-02-01 Impact factor: 10.282
Authors: C L Ebens; J A McGrath; K Tamai; A Hovnanian; J E Wagner; M J Riddle; D R Keene; T E DeFor; R Tryon; M Chen; D T Woodley; K Hook; J Tolar Journal: Br J Dermatol Date: 2019-06-28 Impact factor: 9.302
Authors: Clare L Rogers; Matthew Gibson; Johannes S Kern; Linda K Martin; Susan J Robertson; Benjamin S Daniel; John C Su; Oliver G C Murrell; Grant Feng; Dedee F Murrell Journal: JAAD Int Date: 2021-01-21
Authors: Dimitra Kiritsi; Kathrin Dieter; Elke Niebergall-Roth; Silvia Fluhr; Cristina Daniele; Jasmina Esterlechner; Samar Sadeghi; Seda Ballikaya; Leoni Erdinger; Franziska Schauer; Stella Gewert; Martin Laimer; Johann W Bauer; Alain Hovnanian; Giovanna Zambruno; May El Hachem; Emmanuelle Bourrat; Maria Papanikolaou; Gabriela Petrof; Sophie Kitzmüller; Christen L Ebens; Markus H Frank; Natasha Y Frank; Christoph Ganss; Anna E Martinez; John A McGrath; Jakub Tolar; Mark A Kluth Journal: JCI Insight Date: 2021-11-22
Authors: Amy S Paller; Elena Pope; Dan Rudin; Anna Malyala; Deborah Ramsdell; Ramsey Johnson; Hal Landy; Dedee F Murrell Journal: Orphanet J Rare Dis Date: 2022-08-13 Impact factor: 4.303
Authors: C L Ebens; J A McGrath; J A Riedl; A R Keith; G Lilja; S Rusch; D R Keene; S F Tufa; M J Riddle; R Shanley; A E Van Heest; J Tolar Journal: Br J Dermatol Date: 2020-12-14 Impact factor: 11.113