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Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series

Mojca Zerjav Tansek1,2, Jana Kodric3, Simona Klemencic1

  • 1Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.

Molecular Genetics and Metabolism Reports
|July 14, 2021
PubMed

Insights

Mucopolysaccharidosis type II (Hunter syndrome) management varies. Hematopoietic stem cell transplantation (HSCT) showed potential for cognitive development in severe cases, unlike enzyme replacement therapy (ERT).

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked recessive lysosomal storage disease.
  • It results from iduronate-2-sulfatase enzyme deficiency, affecting multiple organ systems.
  • Severe MPS II presents significant challenges in management and patient outcomes.

Purpose of the Study:

  • To compare different management strategies for severe Mucopolysaccharidosis type II (MPS II).
  • To evaluate the efficacy of enzyme replacement therapy (ERT) versus hematopoietic stem cell transplantation (HSCT).
  • To analyze the impact of treatment decisions on cognitive development in MPS II patients.

Main Methods:

  • A case series presenting three unrelated Slovenian patients with severe MPS II.
  • Comparison of disease progression under three management approaches: no specific treatment, ERT, and HSCT.
  • Decision-making for treatment based on disease severity, cognitive impairment, and parental consent.

Main Results:

  • Enzyme replacement therapy (ERT) showed limited benefits, with patients experiencing cognitive decline and disability.
  • Hematopoietic stem cell transplantation (HSCT) was associated with slowly progressing cognitive development in the severe MPS II patient.
  • Natural disease course without specific treatment led to expected progression of symptoms.

Conclusions:

  • Current MPS II treatments offer limited benefits, particularly for severe phenotypes with neurological involvement.
  • Hematopoietic stem cell transplantation (HSCT), with advanced myeloablative conditioning, may be a preferred option for early-diagnosed, severe MPS II patients with low initial disease burden.
  • Further research is needed to generalize findings from this case series.
Keywords:
CNS, central nervous systemENT, ear nose and throat specialistERT, enzyme replacement therapyGAG, glycosaminoglycansHSCT, enzyme replacement therapyHSCT, hematopoietic stem cell transplantationHematopoietic stem cell transplantationHunter syndromeI2S, iduronate-2-sulfataseLSD, lysosomal storage diseaseMPSMPS, mucopolysaccharidosisMucopolysaccharidosis type II

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