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Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

Paul R Harmatz1, Paula Garcia, Nathalie Guffon

  • 1Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA, USA, pharmatz@mail.cho.org.

Journal of Inherited Metabolic Disease
|October 11, 2013
PubMed

Insights

Galsulfase (Naglazyme®) is safe and well-tolerated in infants with MPS VI, reducing urinary GAG levels. While growth was maintained, skeletal issues persisted, suggesting early treatment may slow disease progression.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidosis type VI (MPS VI) is a rare genetic disorder.
  • Enzyme replacement therapy with galsulfase aims to treat MPS VI by replacing the deficient enzyme ARSA.

Purpose of the Study:

  • To evaluate the safety and efficacy of two galsulfase (Naglazyme®) dosage levels in infants with MPS VI.
  • To assess the impact of galsulfase on disease progression and biochemical markers.

Main Methods:

  • Phase 4, multicenter, multinational, open-label study.
  • Infants (n=4) received weekly galsulfase infusions (1.0 or 2.0 mg/kg) for at least 52 weeks.
  • Evaluated skeletal dysplasia, urinary GAG levels, motor function, cardiac and visual function, hearing, and safety.

Main Results:

  • Galsulfase was well-tolerated; no serious drug-related adverse events occurred.
  • Urinary GAG levels decreased by ~70% and were maintained, despite anti-galsulfase antibodies.
  • Skeletal abnormalities progressed, but cardiac function, hearing, and hepatosplenomegaly stabilized or improved.

Conclusions:

  • Galsulfase is safe and well-tolerated in infants with MPS VI at both tested doses.
  • Treatment led to decreased urinary GAG levels and stabilized/improved some clinical manifestations.
  • Early galsulfase initiation may mitigate disease progression in MPS VI.
Abstract

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