Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

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dc.contributor.author Harmatz, Paul R.
dc.contributor.author Mengel, Karl Eugen
dc.contributor.author Giugliani, Roberto
dc.contributor.author Valayannopoulos, Vassili
dc.contributor.author Lin, Shuan-Pei
dc.contributor.author Parini, Rossella
dc.contributor.author Guffon, Nathalie
dc.contributor.author Burton, Barbara K.
dc.contributor.author Hendriksz, Christian J.
dc.contributor.author Mitchell, John J.
dc.contributor.author Martins, Ana Maria [UNIFESP]
dc.contributor.author Jones, Simon A.
dc.contributor.author Guelbert, Norberto
dc.contributor.author Vellodi, Ashok
dc.contributor.author Wijburg, Frits A.
dc.contributor.author Yang, Ke
dc.contributor.author Slasor, Peter
dc.contributor.author Decker, Celeste
dc.date.accessioned 2016-01-24T14:39:56Z
dc.date.available 2016-01-24T14:39:56Z
dc.date.issued 2015-02-01
dc.identifier http://dx.doi.org/10.1016/j.ymgme.2014.10.015
dc.identifier.citation Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 114, n. 2, p. 186-194, 2015.
dc.identifier.issn 1096-7192
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/38653
dc.description.abstract Objectives: Baseline data from the Morquio A Clinical Assessment Program (MorCAP) revealed that individuals with Morquio A syndrome show substantial impairment in multiple domains including endurance and respiratory function (Harmatz et al., Mol Genet Metab, 2013). Here, 1- and 2-year longitudinal endurance and respiratory function data are presented.Methods: Endurance was assessed using the 6-minute walk test (6MWT) and the 3-minute stair climb test (3MSCT). Respiratory function was evaluated by measuring forced vital capacity (PVC) and maximum voluntary ventilation (MW). Data were analyzed using repeated measures ANCOVA models. Annualized estimates of change were determined using model estimates and interpolation.Results: 353, 184, and 78 subjects were assessed at Year 0 (baseline), Year 1, and Year 2, respectively. the overall annualized estimate of change (SE) in 6MWT distance was -4.86 +/- 3.25 m; a larger decline of -6.84 +/- 5.38 m was observed in the subset of subjects meeting the inclusion/exclusion criteria of the Phase 3 clinical trial of elosulfase alfa (>= 5 years of age with baseline 6MWT distance >= 30 and <= 325 m). in contrast, little change (-0.14 +/- 0.60 stairs/min) was observed in 3MSCT. Annualized changes (SE) in PVC and MW were 2.44 +/- 0.68% and 1.01 +/- 2.38%, respectively. PVC and MW increased in patients aged <= 14 years, but decreased in older patients.Conclusions: the natural history of Morquio A syndrome is characterized by progressive impairment of endurance as measured by the 6MWT. Longitudinal trends in PVC and MW showing increase in younger patients, but decrease in older patients, are likely to be influenced by growth. Changes in 6MVVT may represent a sensitive measure of disease progression in ambulatory Morquio A patients. (C) 2014 BioMarin Pharmaceutical Inc. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/). en
dc.format.extent 186-194
dc.language.iso eng
dc.publisher Elsevier B.V.
dc.relation.ispartof Molecular Genetics and Metabolism
dc.rights Acesso aberto
dc.subject Morquio A en
dc.subject Mucopolysaccharidosis IVA en
dc.subject MPS IVA en
dc.subject Longitudinal analysis en
dc.subject Endurance en
dc.subject 6 minute walk test en
dc.title Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome en
dc.type Artigo
dc.rights.license http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.contributor.institution UCSF Benioff Childrens Hosp Oakland
dc.contributor.institution MC Univ Mainz
dc.contributor.institution Dept Genet UFRGS
dc.contributor.institution INAGEMP
dc.contributor.institution Hop Univ Necker Enfants Malad
dc.contributor.institution Mackay Mem Hosp
dc.contributor.institution Mackay Med Coll
dc.contributor.institution San Gerardo Univ Hosp
dc.contributor.institution Hop Femme Mere Enfant
dc.contributor.institution Ann & Robert H Lurie Childrens Hosp
dc.contributor.institution Northwestern Univ
dc.contributor.institution Birmingham Childrens Hosp NHS Fdn Trust
dc.contributor.institution McGill Univ
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Univ Manchester
dc.contributor.institution Hosp Ninos Cordoba
dc.contributor.institution Great Ormond St Hosp Children NHS Fdn Trust
dc.contributor.institution Univ Amsterdam
dc.contributor.institution BioMarin Pharmaceut Inc
dc.description.affiliation UCSF Benioff Childrens Hosp Oakland, Oakland, CA USA
dc.description.affiliation MC Univ Mainz, Ctr Pediat & Adolescent Med, Mainz, Germany
dc.description.affiliation Dept Genet UFRGS, Med Genet Serv HCPA, Porto Alegre, RS, Brazil
dc.description.affiliation INAGEMP, Porto Alegre, RS, Brazil
dc.description.affiliation Hop Univ Necker Enfants Malad, Inst IMAGINE, Reference Ctr Inherited Metab Dis, Paris, France
dc.description.affiliation Mackay Mem Hosp, Taipei, Taiwan
dc.description.affiliation Mackay Med Coll, Taipei, Taiwan
dc.description.affiliation San Gerardo Univ Hosp, Dept Pediat, Rare Metab Dis Unit, Monza, Italy
dc.description.affiliation Hop Femme Mere Enfant, Lyon, France
dc.description.affiliation Ann & Robert H Lurie Childrens Hosp, Chicago, IL USA
dc.description.affiliation Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA
dc.description.affiliation Birmingham Childrens Hosp NHS Fdn Trust, Birmingham, W Midlands, England
dc.description.affiliation McGill Univ, Ctr Hlth, Montreal, PQ, Canada
dc.description.affiliation Universidade Federal de São Paulo, São Paulo, Brazil
dc.description.affiliation Univ Manchester, CMFT, Manchester Ctr Genom Med, Manchester, Lancs, England
dc.description.affiliation Hosp Ninos Cordoba, Cordoba, Argentina
dc.description.affiliation Great Ormond St Hosp Children NHS Fdn Trust, London, England
dc.description.affiliation Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
dc.description.affiliation BioMarin Pharmaceut Inc, Novato, CA USA
dc.description.affiliationUnifesp Universidade Federal de São Paulo, São Paulo, Brazil
dc.identifier.file WOS000348973100305.pdf
dc.identifier.doi 10.1016/j.ymgme.2014.10.015
dc.description.source Web of Science
dc.identifier.wos WOS:000348973100305



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