Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

• Published in: Journal of inborn errors of metabolism and screening Vol. 6
• Main Authors: Quartel Adrian, Harmatz, Paul R, Lampe, Christina, Guffon Nathalie, Ketteridge, David, Leão-Teles Elisa, Jones, Simon A, Giugliani Roberto
• Format: Journal Article
• Language: English
• Published: Porto Alegre Latin American Society of Inborn Errors of Metabolism and Screening (SLEIMPN) 01.01.2018; SciELO
• Subjects: Genetic disorders; Metabolic disorders; Mortality
• ISSN: 2326-4594
• DOI: 10.1177/2326409818755800

Mucopolysaccharidosis VI (MPS VI) is a progressive lysosomal storage disorder with multiorgan and multisystemic pathology. Currently, galsulfase enzyme replacement therapy (ERT) is the only approved treatment for MPS VI. A cross-sectional survey study of 121 patients with MPS VI conducted in 2001 to 2002 and a 10-year follow-up study of the same patients (resurvey study; ClinicalTrials.gov NCT01387854) found that those receiving galsulfase at any time showed physical improvements and a lower mortality rate (16.5%) versus treatment-naive patients (50%). After ∼15 years, galsulfase-treated patients (n = 104) continue to have a survival advantage over treatment-naive patients (n = 14), as demonstrated by a 24% versus 57% mortality rate. This survival advantage is further supported by data from the commercial use of galsulfase (2005-2016), which show a 5-year mortality rate for galsulfase-treated patients of 12.5%. Together, these findings suggest that galsulfase ERT can increase life expectancies for patients with MPS VI over a period of at least 15 years.