Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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뮤코다당증의 장기 치료 효과와 한계점 극복을 위한 노력

  • 손영배 (아주대학교 의과대학 의학유전학과)
  • Published : 2014.06.30
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Abstract

Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic diseases caused by deficiency of lysosomal enzymes. MPSs are clinically heterogeneous and characterized by progressive deterioration in visceral, skeletal and neurological functions. The aim of this article is to review the treatment of MPSs, the unmet needs of current treatments and vision for the future including recent clinical trials. Until recently, supportive care was the only option available for the management of MPSs. Hematopoietic stem cell transplantation (HSCT), another potentially curative treatment, is not routinely advocated in clinical practice due to its high risk profile and lack of evidence for efficacy. From the early 2000s, enzyme replacement therapy (ERT) was approved and available for the treatment of MPS I, II and VI. ERT is effective for the treatment of many somatic symptoms, particularly walking ability and respiratory function, and remains the mainstay of MPS treatment. However, no benefit was found in the neurological symptoms because the enzymes do not readily cross the blood-brain barrier (BBB). In recent years, intrathecal (IT) ERT, substrate reduction therapy (SRT) and gene therapy have been rapidly gaining greater recognition as potential therapeutic avenues. Although still under investigation, IT ERT, SRT and gene therapy are promising MPS treatments that may prevent the neurodegeneration not improved by ERT.

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References

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