Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.,Molecular Genetics and Metabolism

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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

Knowledge Institute of the Dutch Association of Medical Specialists, Utrecht, Netherlands; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Pediatric Clinical Research Office, Amsterdam, Netherlands.
Comradis, Oxford, UK.
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Department of Genetics, UFRGS, and Medical Genetics Service, HPCA, Porto Alegre, Brazil.
UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Doulots LLC, Thompson Station, TN, USA.
Clinical Paediatric Psychology, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Department of Pediatric, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
Paediatric Psychosocial Department, Royal Manchester Children's Hospital, Manchester, UK.
Berry Consultants LLC, Austin, TX, USA; Vanderbilt University School of Medicine, Nashville, TN, USA.
Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Shapiro Neuropsychology Consulting LLC, Portland, OR, USA.

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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