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Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

Christina Lampe1, Andrea Atherton, Barbara K Burton

  • 1Villa Metabolica, Children's Hospital, University of Mainz, Mainz, Germany, christina_lampe@gmx.de.

JIMD Reports
|February 12, 2014
PubMed

Insights

Early enzyme replacement therapy (ERT) with idursulfase for Mucopolysaccharidosis (MPS) II (Hunter syndrome) in infants under one year old showed no new safety concerns. Treated infants experienced improved or stabilized somatic manifestations, suggesting a potentially less severe clinical course.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a progressive lysosomal storage disease with multi-systemic effects.
  • Current enzyme replacement therapy (ERT) with idursulfase is approved for patients aged 1.4 years and older.
  • Limited data exists on the safety and efficacy of ERT initiated in infancy for MPS II.

Purpose of the Study:

  • To evaluate the safety and efficacy of initiating idursulfase ERT in infants with MPS II before one year of age.
  • To assess clinical outcomes and potential benefits of early intervention in a cohort of infants diagnosed with MPS II.

Main Methods:

  • A case series of eight MPS II patients treated with idursulfase before 12 months of age was analyzed.
  • Treatment initiation ranged from 10 days to 6.5 months of age, with follow-up durations from 6 weeks to 5.5 years.
  • Safety was monitored for adverse events, including infusion-related reactions, and clinical outcomes were assessed for somatic manifestations.

Main Results:

  • No new safety concerns or infusion-related reactions were observed in the eight infants treated with idursulfase.
  • All patients treated for over 6 weeks demonstrated improvements or stabilization of somatic manifestations.
  • Caregiver reports suggested a less severe clinical course in early-treated patients compared to other affected family members.

Conclusions:

  • Initiating idursulfase ERT in infants under one year of age with MPS II appears safe and well-tolerated.
  • Early ERT in this cohort led to positive clinical outcomes, including stabilization or improvement of somatic symptoms.
  • These findings support the potential benefit of early intervention for MPS II, warranting further investigation.

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