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

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

Autor Harmatz, Paul R. Google Scholar
Mengel, Karl Eugen Google Scholar
Giugliani, Roberto Google Scholar
Valayannopoulos, Vassili Google Scholar
Lin, Shuan-Pei Google Scholar
Parini, Rossella Google Scholar
Guffon, Nathalie Google Scholar
Burton, Barbara K. Google Scholar
Hendriksz, Christian J. Google Scholar
Mitchell, John J. Google Scholar
Martins, Ana Maria Autor UNIFESP Google Scholar
Jones, Simon A. Google Scholar
Guelbert, Norberto Google Scholar
Vellodi, Ashok Google Scholar
Wijburg, Frits A. Google Scholar
Yang, Ke Google Scholar
Slasor, Peter Google Scholar
Decker, Celeste Google Scholar
Instituição UCSF Benioff Childrens Hosp Oakland
MC Univ Mainz
Dept Genet UFRGS
INAGEMP
Hop Univ Necker Enfants Malad
Mackay Mem Hosp
Mackay Med Coll
San Gerardo Univ Hosp
Hop Femme Mere Enfant
Ann & Robert H Lurie Childrens Hosp
Northwestern Univ
Birmingham Childrens Hosp NHS Fdn Trust
McGill Univ
Universidade Federal de São Paulo (UNIFESP)
Univ Manchester
Hosp Ninos Cordoba
Great Ormond St Hosp Children NHS Fdn Trust
Univ Amsterdam
BioMarin Pharmaceut Inc
Resumo 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/).
Palavra-chave Morquio A
Mucopolysaccharidosis IVA
MPS IVA
Longitudinal analysis
Endurance
6 minute walk test
Idioma Inglês
Data de publicação 2015-02-01
Publicado em Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 114, n. 2, p. 186-194, 2015.
ISSN 1096-7192 (Sherpa/Romeo, fator de impacto)
Publicador Elsevier B.V.
Extensão 186-194
Fonte http://dx.doi.org/10.1016/j.ymgme.2014.10.015
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000348973100305
Endereço permanente http://repositorio.unifesp.br/handle/11600/38653

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