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Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome

M Pineda1, M O'Callaghan2, A Fernandez Lopez3

  • 1Fundación y Servicio de Neuropediatría, Hospital Universitario Sant Joan de Déu, CIBERER, Barcelona, Spain. pineda@hsjdbcn.org.

JIMD Reports
|February 28, 2016
PubMed

Insights

Enzyme replacement therapy (ERT) with galsulfase stabilized severe Mucopolysaccharidosis type VI (MPS VI) in twins over 9 years. Early diagnosis and treatment are crucial for managing this rare genetic disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidosis type VI (MPS VI) is a severe, progressive genetic disorder caused by N-acetylgalactosamine-4-sulfatase (ASB) deficiency.
  • This deficiency leads to glycosaminoglycan (GAG) accumulation, resulting in multi-organ damage and failure.
  • MPS VI presents with characteristic symptoms like short stature, dysmorphic features, and skeletal abnormalities.

Purpose of the Study:

  • To evaluate the long-term efficacy and clinical outcomes of enzyme replacement therapy (ERT) in monochorionic biamniotic twins with severe MPS VI.
  • To assess the impact of ERT on various organ systems and disease progression over a 9-year period.

Main Methods:

  • The study involved twins with severe MPS VI receiving weekly infusions of recombinant human ASB (galsulfase) at 1 mg/kg.
  • Comprehensive clinical examinations, biochemical, immunological, and genetic investigations were conducted after 9 years of ERT.
  • Disease stabilization was assessed by monitoring cardiac and respiratory functions, body length, and specific organ involvement.

Main Results:

  • Both twins showed stabilization of cardiac and respiratory functions and body length after 9 years of ERT.
  • Twin 2 exhibited more severe multisystemic involvement, including a unique ischemic spinal cord lesion post-surgery.
  • Despite differing initial severity, the disease progression was equally stabilized in both sisters.

Conclusions:

  • Early diagnosis and timely enzyme replacement therapy (ERT) are critical for optimal clinical outcomes in MPS VI.
  • Long-term ERT with galsulfase demonstrates disease stabilization in severe MPS VI cases.
  • Further research into novel treatment strategies for MPS VI is warranted.

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