Margaux C Masten1, Justin D Williams2, Jennifer Vermilion2, Heather R Adams2, Amy Vierhile2, Alyssa Collins2, Frederick J Marshall2, Erika F Augustine2, Jonathan W Mink2. 1. From the Departments of Neurology (M.C.M., J.D.W., J.V., H.R.A., A.V., A.C., F.J.M., E.F.A., J.W.M.), Neuroscience (J.W.M.), and Pediatrics (J.V., H.R.A., E.F.A., J.W.M.) and Center for Health and Technology (E.F.A.), University of Rochester School of Medicine and Dentistry; and University of Rochester School of Nursing (A.V.), NY. margaux_masten@urmc.rochester.edu. 2. From the Departments of Neurology (M.C.M., J.D.W., J.V., H.R.A., A.V., A.C., F.J.M., E.F.A., J.W.M.), Neuroscience (J.W.M.), and Pediatrics (J.V., H.R.A., E.F.A., J.W.M.) and Center for Health and Technology (E.F.A.), University of Rochester School of Medicine and Dentistry; and University of Rochester School of Nursing (A.V.), NY.
Abstract
OBJECTIVE: To develop a disease-specific staging system for CLN3 disease and to test the hypothesis that salient and discrete clinical features of CLN3 disease may be used to define disease stages by analyzed data from an 18-year-long natural history study. METHODS: A proposed staging system, the CLN3 Staging System (CLN3SS), was based on salient and clinically meaningful endpoints. The relationships between stage and age, stage and Unified Batten Disease Rating Scale (UBDRS) physical severity score, and stage and UBDRS capability impairment subscale scores were determined. We used t tests to determine whether the stages were significantly different from each other on the basis of age and scores. RESULTS: Data were analyzed from 322 evaluations in 108 individuals. There were significant differences among the stages based on age and severity scores. For individuals with longitudinal data, no individual reverted to a less severe stage over time. CONCLUSION: The CLN3SS is a disease-specific staging system that can be used to classify individuals into specific strata based on age and disease severity. The CLN3SS has potential applications in clinical trials for cohort stratification.
OBJECTIVE: To develop a disease-specific staging system for CLN3 disease and to test the hypothesis that salient and discrete clinical features of CLN3 disease may be used to define disease stages by analyzed data from an 18-year-long natural history study. METHODS: A proposed staging system, the CLN3 Staging System (CLN3SS), was based on salient and clinically meaningful endpoints. The relationships between stage and age, stage and Unified Batten Disease Rating Scale (UBDRS) physical severity score, and stage and UBDRS capability impairment subscale scores were determined. We used t tests to determine whether the stages were significantly different from each other on the basis of age and scores. RESULTS: Data were analyzed from 322 evaluations in 108 individuals. There were significant differences among the stages based on age and severity scores. For individuals with longitudinal data, no individual reverted to a less severe stage over time. CONCLUSION: The CLN3SS is a disease-specific staging system that can be used to classify individuals into specific strata based on age and disease severity. The CLN3SS has potential applications in clinical trials for cohort stratification.
Authors: Margaux C Masten; Camille Corre; Alex R Paciorkowski; Amy Vierhile; Heather R Adams; Jennifer Vermilion; Grace A Zimmerman; Erika F Augustine; Jonathan W Mink Journal: J Inherit Metab Dis Date: 2021-09-07 Impact factor: 4.750
Authors: Juliet K Knowles; Ingo Helbig; Cameron S Metcalf; Laura S Lubbers; Lori L Isom; Scott Demarest; Ethan M Goldberg; Alfred L George; Holger Lerche; Sarah Weckhuysen; Vicky Whittemore; Samuel F Berkovic; Daniel H Lowenstein Journal: Epilepsia Date: 2022-07-17 Impact factor: 6.740
Authors: An N Dang Do; Audrey E Thurm; Cristan A Farmer; Ariane G Soldatos; Colby E Chlebowski; Julie K O'Reilly; Forbes D Porter Journal: Am J Med Genet A Date: 2021-12-16 Impact factor: 2.578
Authors: Aline K Honingh; Yvonne L Kruithof; Willemijn F E Kuper; Peter M van Hasselt; Paula S Sterkenburg Journal: Int J Environ Res Public Health Date: 2022-05-12 Impact factor: 4.614
Authors: Hanna Hildenbrand; Jordan Wickstrom; Rebecca Parks; Cris Zampieri; Thuy-Tien Nguyen; Audrey Thurm; Kisha Jenkins; Katharine E Alter; Jesse Matsubara; Dylan Hammond; Ariane Soldatos; Forbes D Porter; An N Dang Do Journal: Am J Med Genet A Date: 2021-02-08 Impact factor: 2.578
Authors: Myriam Abdennadher; Sara Inati; Ariane Soldatos; Gina Norato; Eva H Baker; Audrey Thurm; Luca Bartolini; Ruturaj Masvekar; William Theodore; Bibiana Bielekova; Forbes D Porter; An N Dang Do Journal: J Inherit Metab Dis Date: 2021-02-15 Impact factor: 4.750