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Up to five years experience with 11 mucopolysaccharidosis type VI patients

Marion M M G Brands1, Esmee Oussoren, George J G Ruijter

  • 1Erasmus MC Center for Lysosomal and Metabolic Diseases, Sophia's Children's Hospital, Rotterdam, The Netherlands.

Molecular Genetics and Metabolism
|March 26, 2013
PubMed

Insights

Enzyme-replacement therapy (ERT) shows significant positive effects on cardiac function, organ size, and quality of life in Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) patients. Long-term data confirm ERT

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is a rare, progressive metabolic disorder.
  • It results from a deficiency in N-acetyl galactosamine 4-sulfatase, leading to glycosaminoglycan (GAG) accumulation.
  • Previous studies demonstrated ERT effectiveness, but long-term data were limited.

Purpose of the Study:

  • To evaluate the long-term effects of enzyme-replacement therapy (ERT) in MPS VI patients.
  • To assess the impact of ERT on various clinical parameters and quality of life.

Main Methods:

  • Prospective, open-label, follow-up study of 11 Dutch MPS VI patients (age 2-18 years).
  • Treatment duration ranged from 1.3 to 5.4 years.
  • Evaluated effects on cardiac dimensions, joint mobility, organ size, urinary GAG excretion, and health-related quality of life (HRQoL).

Main Results:

  • Significant improvements observed in cardiac-wall diameters, shoulder flexion, liver and spleen size, and urinary GAG excretion (p<0.001).
  • Positive effects noted on motor and body functioning domains of HRQoL.
  • No significant changes in cardiac valve regurgitation or hearing; slight HRQoL decrease in 'anxiety' and 'negative emotions'.

Conclusions:

  • Long-term ERT demonstrates significant positive effects on multiple clinical parameters in young MPS VI patients.
  • The study provides valuable long-term data on ERT efficacy in an open cohort.
  • Differences in GAG excretion were observed between rapid and slow progressive disease forms.

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