A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase

Abstract

Introduction

Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disorder, characterized primarily by skeletal dysplasia and joint contracture. It is caused by a deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B), for which a recombinant formulation (galsulfase) is available as replacement therapy.

Objective

To evaluate the effectiveness and safety of galsulfase compared to placebo or no interventions, for treating MPS VI. We also considered studies evaluating different doses of galsulfase.

Methods

A systematic review of the literature was conducted. A computerized electronic search in MEDLINE, EMBASE, CENTRAL, SciELO, and LILACS was carried on to identify any randomized trials that met our inclusion criteria.

Results

Two studies were included in the review. Because the number of studies was small, our analysis probably did not find any statistically significant difference. Long-term follow-up will be required to ascertain full clinical benefit, on both event-free survival and quality of life measures.

Conclusions

There is some evidence to support the use of galsulfase in the treatment of MPS VI; however due to the very low quantity of included studies we could not analyze it in an appropriate way. This review highlights the need for continued research into the use of enzyme replacement therapy for MPS VI.

Keywords:

• mucopolysaccharidosis VI
• Maroteaux-Lamy syndrome
• galsulfase
• naglazyme
• systematic review

Disclosures

The Harmatz 2006¹⁰ study was sponsored by BioMarin Pharmaceutical Inc., and was partially supported with funds provided by the National Center for Research Resources (NCRR). Drs Harmatz, Wittes, Lowe, Berger, and Yu have provided consulting support to BioMarin Pharmaceutical Inc., Novato, California. Drs Swiedler, Kakkis, and Ms Newman are employees and stockholders of BioMarin Pharmaceutical Inc.

The Harmatz 2004/Harmatz 2005^11,12 study was sponsored by BioMarin Pharmaceutical Inc. and was also supported in part by PHS, NCRR.