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A cross\u2010sectional Survey Study in individuals (n\u2009=\u2009121) affected with MPS VI was conducted between 2001 and 2002 to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of disease. We conducted a Resurvey Study (ClinicalTrials.gov: NCT01387854) to obtain 10\u2010year follow\u2010up data, including medical histories and clinical assessments (n\u2009=\u200959), and survival status over 12 years (n\u2009=\u2009117). Patients received a mean (SD) of 6.8 (2.2) years of galsulfase ERT between baseline (Survey Study) and follow\u2010up. ERT patients increased in height by 20.4\u2009cm in the 4\u20137\u2010year\u2010old baseline age group and by 16.8\u2009cm in the 8\u201312\u2010year\u2010old baseline age group. ERT patients &lt;13 years\u2010old demonstrated improvement in forced vital capacity (FVC) by 68% and forced expiratory volume in 1\u2009sec (FEV1) by 55%, and those \u226513 years\u2010old increased FVC by 12.8% and maintained FEV1. Patients with &gt;200\u2009\u00b5g\/mg baseline uGAG levels increased FVC by 48% in the &lt;13\u2010year\u2010old baseline age group and by 15% in the \u226513\u2010year\u2010old baseline age group. ERT patients who completed the 6\u2010min walk test demonstrated a mean (SD) increase of 65.7 (100.6)\u2009m. Cardiac outcomes did not significantly improve or worsen. Observed mortality rate among na\u00efve patients was 50% (7\/14) and 16.5% (17\/103) in the ERT group (unadjusted hazard ratio, 0.24; 95% CI, 0.10\u20130.59). Long\u2010term galsulfase ERT was associated with improvements in pulmonary function and endurance, stabilized cardiac function and increased survival. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36584","type":"journal-article","created":{"date-parts":[[2014,4,24]],"date-time":"2014-04-24T19:36:48Z","timestamp":1398368208000},"page":"1953-1964","source":"Crossref","is-referenced-by-count":79,"title":["Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux\u2013Lamy syndrome)\u201410\u2010year follow\u2010up of patients who previously participated in an MPS VI survey study"],"prefix":"10.1002","volume":"164","author":[{"given":"Roberto","family":"Giugliani","sequence":"first","affiliation":[{"name":"Medical Genetics Service HCPA Department of Genetics UFRGS and INAGEMP Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Lampe","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Villa Metabolica University Medical Center of the University of Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Guffon","sequence":"additional","affiliation":[{"name":"H\u00f4pital Femme M\u00e8re Enfant Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Ketteridge","sequence":"additional","affiliation":[{"name":"Women's and Children's Hospital North Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Le\u00e3o\u2010Teles","sequence":"additional","affiliation":[{"name":"Hospital Pedi\u00e1trico Integrado Centro Hospitalar de S. 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