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https://hdl.handle.net/2440/130355
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Type: | Journal article |
Title: | Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study |
Author: | Giugliani, R. Lampe, C. Guffon, N. Ketteridge, D. Leão-Teles, E. Wraith, J.E. Jones, S.A. Piscia-Nichols, C. Lin, P. Quartel, A. Harmatz, P. |
Citation: | American Journal of Medical Genetics Part A, 2014; 164(8):1953-1964 |
Publisher: | Wiley |
Issue Date: | 2014 |
ISSN: | 1552-4825 1552-4833 |
Statement of Responsibility: | Roberto Giugliani, Christina Lampe, Nathalie Guffon, David Ketteridge, Elisa Leão‐Teles, James E. Wraith ... et al. |
Abstract: | Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetylgalactosamine-4-sulfatase activity. A cross-sectional Survey Study in individuals (n = 121) 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-year follow-up data, including medical histories and clinical assessments (n = 59), and survival status over 12 years (n = 117). Patients received a mean (SD) of 6.8 (2.2) years of galsulfase ERT between baseline (Survey Study) and follow-up. ERT patients increased in height by 20.4 cm in the 4-7-year-old baseline age group and by 16.8 cm in the 8-12-year-old baseline age group. ERT patients <13 years-old demonstrated improvement in forced vital capacity (FVC) by 68% and forced expiratory volume in 1 sec (FEV1) by 55%, and those ≥13 years-old increased FVC by 12.8% and maintained FEV1. Patients with >200 µg/mg baseline uGAG levels increased FVC by 48% in the <13-year-old baseline age group and by 15% in the ≥13-year-old baseline age group. ERT patients who completed the 6-min walk test demonstrated a mean (SD) increase of 65.7 (100.6) m. Cardiac outcomes did not significantly improve or worsen. Observed mortality rate among naïve patients was 50% (7/14) and 16.5% (17/103) in the ERT group (unadjusted hazard ratio, 0.24; 95% CI, 0.10-0.59). Long-term galsulfase ERT was associated with improvements in pulmonary function and endurance, stabilized cardiac function and increased survival. |
Keywords: | Mucopolysaccharidosis VI |
Rights: | © 2014 Wiley Periodicals, Inc. |
DOI: | 10.1002/ajmg.a.36584 |
Published version: | http://dx.doi.org/10.1002/ajmg.a.36584 |
Appears in Collections: | Aurora harvest 8 Genetics publications |
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