The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Autor Harmatz, Paul 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 Google Scholar
Martins, Ana Maria Autor UNIFESP Google Scholar
Jones, Simon Google Scholar
Guelbert, Norberto Google Scholar
Vellodi, Ashok Google Scholar
Hollak, Carla Google Scholar
Slasor, Peter Google Scholar
Decker, Celeste Google Scholar
Instituição Childrens Hosp & Res Ctr Oakland
MC Univ Mainz
Univ Fed Rio Grande do Sul
Hop Necker Enfants Malad
Mackay Mem Hosp
Mackay Med Coll
Az Osped S Gerardo
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 Sick Children
Univ Amsterdam
Resumo Objectives: the objectives of this study are to quantify endurance and respiratory function and better characterize spectrum of symptoms and biochemical abnormalities in mucopolysaccharidosis IVA subjects.Methods: MorCAP was a multicenter, multinational, cross sectional study amended to be longitudinal in 2011. Each study visit required collection of medical history, clinical assessments, and keratan sulfate (KS) levels.Results: Data from the first visit of 325 subjects (53% female) were available. Mean age was 14.5 years. Mean +/- SD height z-scores were -5.6 +/- 3.1 as determined by the CDC growth charts. Mean +/- SD from the 6-minute-walk-test was 212.6 +/- 1522 m, revealing limitations in functional endurance testing, and 30.0 +/- 24.0 stairs/min for the 3-minute-stair-climb test. Respiratory function showed limitations comparable to MPS VI patients; mean +/- SD was 1.2 +/- 0.9 1 based on forced vital capacity and 34.8 +/- 25.5 l/min based on maximum voluntary ventilation. Mean urinary keratan sulfate (uKS) was elevated for all ages, and negatively correlated with age. Higher uKS correlated with greater clinical impairment based on height z-scores, endurance and respiratory function tests. the MPS Health Assessment Questionnaire reveals impairments in mobility and activities of daily living in comparison to an age-matched control population.Conclusions: MPS IVA is a multisystem disorder with a continuum of clinical presentation. All affected individuals experience significant functional limitations and reduced quality of life. Older patients have more severe exercise and respiratory capacity limitations, and more frequent cardiac pathology illustrating the progressive nature of disease. (C) 2013 Elsevier Inc. All rights reserved.
Assunto MPS
Lysosomal storage disorder
Respiratory function
Idioma Inglês
Financiador BioMarin Pharmaceutical Inc.
National Center for Research Resources
Fondazione Pierfranco and Luisa Mariani of Milano
Número do financiamento National Center for Research Resources: 5 M01 RR-01271
Data 2013-05-01
Publicado em Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 109, n. 1, p. 54-61, 2013.
ISSN 1096-7192 (Sherpa/Romeo, fator de impacto)
Editor Elsevier B.V.
Extensão 54-61
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000318055100010

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