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

Am J Med Genet A. 2014 Aug;164A(8):1953-64. doi: 10.1002/ajmg.a.36584. Epub 2014 Apr 24.


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 ( 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: Maroteaux-Lamy syndrome; N-acetylgalactosamine-4-sulfatase; enzyme replacement therapy; exercise tolerance; follow-up studies; mucopolysaccharidosis VI; multicenter study [publication type]; respiratory function tests; survival rate.

Publication types

  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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 / drug therapy*
  • Mucopolysaccharidosis VI / mortality
  • Mucopolysaccharidosis VI / urine
  • N-Acetylgalactosamine-4-Sulfatase / therapeutic use*
  • N-Acetylgalactosamine-4-Sulfatase / urine
  • Quality of Life
  • Recombinant Proteins / therapeutic use
  • Recombinant Proteins / urine
  • Respiratory Function Tests
  • Young Adult


  • Recombinant Proteins
  • N-Acetylgalactosamine-4-Sulfatase
  • galsulfase

Associated data