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Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
Molecular Genetics and Metabolism ( IF 3.7 ) Pub Date : 2020-08-31 , DOI: 10.1016/j.ymgme.2020.08.007
Johanna H van der Lee 1 , Jonathan Morton 2 , Heather R Adams 3 , Lorne Clarke 4 , Julie B Eisengart 5 , Maria L Escolar 6 , Roberto Giugliani 7 , Paul Harmatz 8 , Melissa Hogan 9 , Shauna Kearney 10 , Joseph Muenzer 11 , Nicole Muschol 12 , Stewart Rust 13 , Benjamin R Saville 14 , Margaret Semrud-Clikeman 4 , Raymond Wang 15 , Elsa Shapiro 16
Affiliation  

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.



中文翻译:

粘多糖酶的治疗发展:更新了神经心理学终点的共识性建议。

神经功能障碍是许多黏多糖酶(也称为MPS疾病)的重要临床组成部分。准确,一致地评估神经心理功能对于更深入地了解这些疾病的自然史以及设计有效的临床试验以评估疗法对大脑的影响至关重要。2017年,国际MPS共识小组发布了有关设计和开展临床研究的最佳实践的建议,这些研究旨在研究治疗方法对神经病性粘多糖贮积症患者认知功能和适应行为的影响。根据2020年2月举行的国际MPS共识会议,

更新日期:2020-08-31
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