10-year follow-up study of ERT for MPS VI patients

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

Giugliani R. 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;164(8):1953-64.


Giugliani et el evaluate the long-term effects of enzyme replacement therapy in Maroteaux-Lamy syndrome (MPS VI) by conducting a resurvey of the 121 patients first evaluated in a cross-sectional study in 2001-2002. With a ten-year follow-up period, this is the longest longitudinal study of treated MPS VI patients to be performed to date. They were able to obtain information on survival for almost all patients (117), but clinical assessments and medical histories for less than half (59). The authors find that the ERT-treated group had longer survival, improved pulmonary function and endurance, and stabilised cardiac function.
Although the absence of randomisation and the small size of the ERT-naive group (14 patients in total, with medical histories and clinical assessments available for only 4) may introduce a selection bias, the study offers strong evidence for the long-term benefits of ERT for patients with Maroteaux-Lamy syndrome. It is possible that even better outcomes could be achieved with earlier initiation of therapy.


Leave a Reply

You must be logged in to post a comment.