Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure

被引:34
作者
van der Lee, Johanna H. [1 ]
Morton, Jonathan [2 ]
Adams, Heather R. [3 ]
Clarke, Lorne [4 ]
Ebbink, Berendine Johanne [5 ]
Escolar, Maria L. [6 ]
Giugliani, Roberto [7 ]
Harmatz, Paul [8 ]
Hogan, Melissa [9 ]
Jones, Simon [10 ]
Kearney, Shauna [11 ]
Muenzer, Joseph [12 ]
Rust, Stewart [13 ]
Semrud-Clikeman, Margaret [14 ]
Wijburg, Frits A. [15 ]
Yu, Zi-fan [16 ]
Janzen, Darren [17 ]
Shapiro, Elsa [14 ,18 ]
机构
[1] Acad Med Ctr, Emma Childrens Hosp, Pediat Clin Res Off, Amsterdam, Netherlands
[2] Comradis Ltd, Oxford, England
[3] Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA
[4] Univ British Columbia, British Columbia Childrens Hosp, Res Inst, Vancouver, BC, Canada
[5] Erasmus MC Univ Med Ctr, Ctr Lysosomal & Metab Dis, Rotterdam, Netherlands
[6] Pittsburgh Sch Med, Dept Pediat, Pittsburgh, PA USA
[7] Med Genet Serv HCPA, Dept Genet UFRGS, Porto Alegre, RS, Brazil
[8] UCSF Benioff Childrens Hosp Oakland, Oakland, CA USA
[9] Saving Case & Friends, Thompsons Stn, TN USA
[10] St Marys Hosp, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, England
[11] Birmingham Childrens Hosp NHS Fdn Trust, Clin Paediat Psychol, Birmingham, W Midlands, England
[12] Univ North Carolina Chapel Hill, Dept Pediat, Chapel Hill, NC USA
[13] Royal Manchester Childrens Hosp, Paediat Psychosocial Dept, Manchester, Lancs, England
[14] Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA
[15] Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands
[16] Stat Collaborat Inc, Washington, DC USA
[17] Oregon Hlth & Sci Univ, Inst Dev & Disabil, Portland, OR 97201 USA
[18] Shapiro Neuropsychol Consulting LLC, Portland, OR USA
关键词
Mucopolysaccharidoses; Cognitive; Adaptive behavior; Neurological; Clinical trial; Protocol; ENZYME REPLACEMENT THERAPY; STEM-CELL TRANSPLANTATION; BONE-MARROW-TRANSPLANTATION; CLINICAL-PRACTICE PROTOCOL; LONG-TERM EFFICACY; HURLER-SYNDROME; NATURAL-HISTORY; FUNCTIONAL OUTCOMES; DISEASE PROGRESSION; STORAGE DISEASES;
D O I
10.1016/j.ymgme.2017.05.004
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This can make the consistent collection of reliable data across study sites difficult. To address these challenges, an International MPS Consensus Conference for Cognitive Endpoints was convened to discuss approaches for evaluating cognitive and adaptive function inpatients with mucopolysaccharidoses. The goal was to develop a consensus on best practice for the design and conduct of clinical studies investigating novel therapies for these conditions, with particular focus on the most appropriate outcome measures for cognitive function and adaptive behavior. The outcomes from the consensus panel discussion are reported here. (C) 2017 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
引用
收藏
页码:70 / 79
页数:10
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