Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

被引：29

作者：

van der Lee, Johanna H. ^{[1
,2
]}

Morton, Jonathan ^{[3
]}

Adams, Heather R. ^{[4
]}

Clarke, Lorne ^{[5
]}

Eisengart, Julie B. ^{[6
]}

Escolar, Maria L. ^{[7
]}

Giugliani, Roberto ^{[8
,9
]}

Harmatz, Paul ^{[10
]}

Hogan, Melissa ^{[11
]}

Kearney, Shauna ^{[12
]}

Muenzer, Joseph ^{[13
]}

Muschol, Nicole ^{[14
]}

Rust, Stewart ^{[15
]}

Saville, Benjamin R. ^{[16
,17
]}

Semrud-Clikeman, Margaret ^{[5
]}

Wang, Raymond ^{[18
]}

Shapiro, Elsa ^{[7
,19
]}

机构：

[1] Dutch Assoc Med Specialists, Knowledge Inst, Utrecht, Netherlands

[2] Univ Amsterdam, Amsterdam UMC, Emma Childrens Hosp, Pediat Clin Res Off, Amsterdam, Netherlands

[3] Comradis, Oxford, England

[4] Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA

[5] Univ British Columbia, Child & Family Res Inst, Dept Med Genet, Vancouver, BC, Canada

[6] Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA

[7] Univ Pittsburgh, Sch Med, Dept Pediat, Pittsburgh, PA 15261 USA

[8] Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil

[9] HPCA, Med Genet Serv, Porto Alegre, RS, Brazil

[10] UCSF Benioff Childrens Hosp Oakland, Oakland, CA USA

[11] Doulots LLC, Thompson Stn, TN USA

[12] Birmingham Childrens Hosp NHS Fdn Trust, Clin Paediat Psychol, Birmingham, W Midlands, England

[13] Univ N Carolina, Dept Pediat, Chapel Hill, NC 27515 USA

[14] Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany

[15] Royal Manchester Childrens Hosp, Paediat Psychosocial Dept, Manchester, Lancs, England

[16] Berry Consultants LLC, Austin, TX USA

[17] Vanderbilt Univ, Sch Med, Nashville, TN 37212 USA

[18] Childrens Hosp Orange Cty, Div Metab Disorders, Orange, CA 92668 USA

[19] Shapiro Neuropsychol Consulting LLC, Portland, OR USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2020年 / 131卷 / 1-2期

关键词：

Mucopolysaccharidoses; Cognitive; Behavior; Social-emotional; Clinical trial; Protocol; ENZYME REPLACEMENT THERAPY; QUALITY-OF-LIFE; BONE-MARROW-TRANSPLANTATION; LYSOSOMAL STORAGE DISEASES; CLINICAL-PRACTICE PROTOCOL; HURLER-SYNDROME; NATURAL-HISTORY; SANFILIPPO SYNDROME; FUNCTIONAL OUTCOMES; ELOSULFASE ALPHA;

D O I：

10.1016/j.ymgme.2020.08.007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.

引用

页码：181 / 196

页数：16

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