Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials

被引:0
作者
Deborah Elstein
Nadia Belmatoug
Patrick Deegan
Özlem Göker-Alpan
Derralynn A. Hughes
Ida Vanessa D. Schwartz
Neal Weinreb
Nicola Bonner
Charlotte Panter
Donna Fountain
Andrew Lenny
Louise Longworth
Rachael Miller
Koonal Shah
Jörn Schenk
Rohini Sen
Ari Zimran
机构
[1] Takeda Pharmaceuticals International AG,Assistance
[2] Université de Paris,Publique Hôpitaux de Paris Nord
[3] Cambridge University Hospitals,Lysosomal Disorders Unit
[4] O&O Alpan LLC,Lysosomal Disorders Unit and Center for Clinical Trials
[5] Royal Free London NHS Foundation Trust,Medical Genetics Service
[6] UFRGS, HCPA, Genetics Department
[7] University of Miami Miller School of Medicine,Gaucher Unit
[8] Adelphi Values,undefined
[9] PHMR,undefined
[10] Takeda Pharmaceuticals Company Ltd,undefined
[11] Shaare Zedek Medical Center,undefined
[12] Hebrew University-Hadassah Medical School,undefined
来源
Orphanet Journal of Rare Diseases | / 17卷
关键词
Patient-reported outcomes; PROM; Gaucher disease; Lysosomal storage disorder; Questionnaire; Content validation; Psychometric validation;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 152 条
[1]  
Bultron G(2010)The risk of Parkinson's disease in type 1 Gaucher disease J Inherit Metab Dis 33 167-173
[2]  
Kacena K(2013)Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: results from a randomized, double-blind, multinational, Phase 3 study Am J Hematol 88 166-171
[3]  
Pearson D(2015)Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: long-term data from phase III clinical trials Am J Hematol 90 584-591
[4]  
Boxer M(2009)Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis Br J Haematol 147 561-570
[5]  
Yang R(2016)Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naive to enzyme replacement therapy or previously treated with imiglucerase Mol Genet Metab 117 164-171
[6]  
Sathe S(2003)Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3 J Pediatr 143 273-276
[7]  
Gonzalez DE(2021)Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2) Orphanet J Rare Dis 16 217-1656
[8]  
Turkia HB(1987)The measurement of performance in childhood cancer patients Cancer 60 1651-588
[9]  
Lukina EA(2007)Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease Clin Genet 71 576-37
[10]  
Kisinovsky I(2013)Quality of life of brazilian patients with Gaucher disease and fabry disease JIMD Rep 7 31-386