1. 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
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Giugliani, Roberto, Lampe, Christina, Guffon, Nathalie, Ketteridge, David, Leão‐Teles, Elisa, Wraith, James E, Jones, Simon A, Piscia‐Nichols, Cheri, Lin, Ping, Quartel, Adrian, and Harmatz, Paul
- Subjects
Biomedical and Clinical Sciences ,Clinical Sciences ,Digestive Diseases ,Mucopolysaccharidoses (MPS) ,Rare Diseases ,Clinical Research ,Cardiovascular ,Adolescent ,Body Weights and Measures ,Child ,Child ,Preschool ,Cross-Sectional Studies ,Enzyme Replacement Therapy ,Exercise Test ,Female ,Follow-Up Studies ,Heart Function Tests ,Humans ,Male ,Mucopolysaccharidosis VI ,N-Acetylgalactosamine-4-Sulfatase ,Quality of Life ,Recombinant Proteins ,Respiratory Function Tests ,Young Adult ,mucopolysaccharidosis VI ,Maroteaux-Lamy syndrome ,N-acetylgalactosamine-4-sulfatase ,enzyme replacement therapy ,follow-up studies ,multicenter study [publication type] ,survival rate ,exercise tolerance ,respiratory function tests ,Genetics ,Clinical sciences - 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 200 µg/mg baseline uGAG levels increased FVC by 48% in the
- Published
- 2014