Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/220906 |
Resumo: | 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. |
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Van der Lee, Johanna HannekeMorton, JonathanAdams, Heather R.Clarke, Lorne A.Eisengart, Julie B.Escolar, Maria LuisaGiugliani, RobertoHarmatz, PaulHogan, MelissaKearney, ShaunaMuenzer, JosephMuschol, NicoleRust, StewartSaville, Benjamin R.Semrud-Clikeman, Margaret T.Wang, Raymond Y.Shapiro, Elsa G.2021-05-13T04:27:42Z20201096-7206http://hdl.handle.net/10183/220906001121833Neurological 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.application/pdfengMolecular genetics and metabolism. Amsterdam. Vol. 131, no. 1-2 (2020), p. 181-196MucopolissacaridosesCogniçãoConsensoProtocolos clínicosComportamentoEstudo clínicoMucopolysaccharidosesCognitiveBehaviorSocial-emotionalClinical trialProtocolTherapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpointsEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001121833.pdf.txt001121833.pdf.txtExtracted Texttext/plain116225http://www.lume.ufrgs.br/bitstream/10183/220906/2/001121833.pdf.txt68563cd48462eb68e9806427ac8859aeMD52ORIGINAL001121833.pdfTexto completo (inglês)application/pdf985358http://www.lume.ufrgs.br/bitstream/10183/220906/1/001121833.pdf91596af8a2c1a07490aba08c06505eb9MD5110183/2209062021-05-26 04:46:00.35249oai:www.lume.ufrgs.br:10183/220906Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-05-26T07:46Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints |
title |
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints |
spellingShingle |
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints Van der Lee, Johanna Hanneke Mucopolissacaridoses Cognição Consenso Protocolos clínicos Comportamento Estudo clínico Mucopolysaccharidoses Cognitive Behavior Social-emotional Clinical trial Protocol |
title_short |
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints |
title_full |
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints |
title_fullStr |
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints |
title_full_unstemmed |
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints |
title_sort |
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints |
author |
Van der Lee, Johanna Hanneke |
author_facet |
Van der Lee, Johanna Hanneke Morton, Jonathan Adams, Heather R. Clarke, Lorne A. Eisengart, Julie B. Escolar, Maria Luisa Giugliani, Roberto Harmatz, Paul Hogan, Melissa Kearney, Shauna Muenzer, Joseph Muschol, Nicole Rust, Stewart Saville, Benjamin R. Semrud-Clikeman, Margaret T. Wang, Raymond Y. Shapiro, Elsa G. |
author_role |
author |
author2 |
Morton, Jonathan Adams, Heather R. Clarke, Lorne A. Eisengart, Julie B. Escolar, Maria Luisa Giugliani, Roberto Harmatz, Paul Hogan, Melissa Kearney, Shauna Muenzer, Joseph Muschol, Nicole Rust, Stewart Saville, Benjamin R. Semrud-Clikeman, Margaret T. Wang, Raymond Y. Shapiro, Elsa G. |
author2_role |
author author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Van der Lee, Johanna Hanneke Morton, Jonathan Adams, Heather R. Clarke, Lorne A. Eisengart, Julie B. Escolar, Maria Luisa Giugliani, Roberto Harmatz, Paul Hogan, Melissa Kearney, Shauna Muenzer, Joseph Muschol, Nicole Rust, Stewart Saville, Benjamin R. Semrud-Clikeman, Margaret T. Wang, Raymond Y. Shapiro, Elsa G. |
dc.subject.por.fl_str_mv |
Mucopolissacaridoses Cognição Consenso Protocolos clínicos Comportamento Estudo clínico |
topic |
Mucopolissacaridoses Cognição Consenso Protocolos clínicos Comportamento Estudo clínico Mucopolysaccharidoses Cognitive Behavior Social-emotional Clinical trial Protocol |
dc.subject.eng.fl_str_mv |
Mucopolysaccharidoses Cognitive Behavior Social-emotional Clinical trial Protocol |
description |
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. |
publishDate |
2020 |
dc.date.issued.fl_str_mv |
2020 |
dc.date.accessioned.fl_str_mv |
2021-05-13T04:27:42Z |
dc.type.driver.fl_str_mv |
Estrangeiro info:eu-repo/semantics/article |
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info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/220906 |
dc.identifier.issn.pt_BR.fl_str_mv |
1096-7206 |
dc.identifier.nrb.pt_BR.fl_str_mv |
001121833 |
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1096-7206 001121833 |
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http://hdl.handle.net/10183/220906 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Molecular genetics and metabolism. Amsterdam. Vol. 131, no. 1-2 (2020), p. 181-196 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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