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Title: A validated disease severity scoring system for adults with type 1 Gaucher disease
Authors: Weinreb, Neal J.
Cappellini, Maria D.
Cox, Timothy M.
Giannini, Edward H.
Grabowski, Gregory A.
Hwu, Wuh-Liang
Mankin, Henry
Martins, Ana Maria [UNIFESP]
Sawyer, Carolyn
vom Dahl, Stephan
Yeh, Michael S.
Zimran, Ari
Univ Res Fdn Lysosomal Storage Disorders
Univ Milan
Univ Cambridge
Cincinnati Childrens Hosp
Natl Taiwan Univ Hosp
Massachusetts Gen Hosp
Universidade Federal de São Paulo (UNIFESP)
Genzyme Corp
St Franziskus Hosp
Shaare Zedek Med Ctr
Keywords: Gaucher disease
severity scoring
inherited metabolic disorders
acid beta-glucosidase
Issue Date: 1-Jan-2010
Publisher: Lippincott Williams & Wilkins
Citation: Genetics in Medicine. Philadelphia: Lippincott Williams & Wilkins, v. 12, n. 1, p. 44-51, 2010.
Abstract: Purpose: A validated disease severity scoring system (DS3) for Gaucher disease type 1 (GD1) is needed to standardize patient monitoring and to define patient cohorts in clinical studies. Methods: DS3 domains were established by an expert physician group using the nominal group technique of consensus formation. Items were selected by 36 GD1 physicians. the expert group determined appropriate measurement techniques for each item. Measurements were weighted considering contributions to GD1 morbidity and mortality. Consensus Clinical Global Impression Severity scores for sample cases were compared with average DS3 scores. A minimal clinically important difference in GD1 DS3 score was calculated. Results: the GD1 DS3 includes bone (42% of score), hematologic (32%), and visceral domains (26%); individual items use routine assessments, including medical history, blood chemistry, organ volume measurements, and bone evaluations (magnetic resonance imaging and dual x-ray absorptiometry). the maximum score is 19. Interrater reliability was 0.97 (Cohen's kappa). DS3 scores were highly correlated with Clinical Global Impression Severity scores (r(2) = 0.89). the minimal clinically important difference was -3.2 improvement and +3.9 deterioration. Conclusion: This DS3 accurately quantifies GD1 status and intrapatient change over time. Testing of reliability and validity will continue to allow eventual implementation of the DS3 in clinical studies and routine practice. Genet Med 2010:12(1):44-51.
ISSN: 1098-3600
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