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Updated: Apr 21, 2026

Author Spotlight: Developing a Safer and More Efficient Treatment Protocol for Wasting Marmoset Syndrome (WMS)
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Author Spotlight: Developing a Safer and More Efficient Treatment Protocol for Wasting Marmoset Syndrome (WMS)

Published on: July 12, 2024

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Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects

Roberto Giugliani, Silvani Herber, Louise Lapagesse

    Pediatric Endocrinology Reviews : PER
    |October 28, 2014
    PubMed

    Insights

    Mucopolysaccharidosis VI (MPS VI), a rare genetic disorder, shows limited improvement with current treatments like HSCT and ERT. New therapies, including gene therapy and anti-inflammatory drugs, are being explored to address persistent symptoms like bone deformities.

    Area of Science:

    • Biochemistry
    • Genetics
    • Lysosomal Storage Disorders

    Background:

    • Mucopolysaccharidosis VI (MPS VI) is a severe, progressive lysosomal storage disorder.
    • It results from deficient Arylsulphatase B (ARSB) activity, leading to multisystemic complications.
    • Current treatments like HSCT and ERT offer partial benefits but do not resolve key clinical issues.

    Purpose of the Study:

    • To review emerging therapeutic strategies for MPS VI.
    • To evaluate preliminary results, limitations, and future directions of novel treatments.
    • To emphasize the significance of early diagnosis and intervention in MPS VI management.

    Main Methods:

    • Literature review of current and investigational MPS VI treatments.
    • Analysis of preliminary data from new therapeutic approaches.
    • Discussion of potential treatment combinations and future research trends.

    Main Results:

    • Investigational therapies include intrathecal enzyme replacement therapy (ERT), gene therapy, and anti-inflammatory agents.
    • These novel approaches aim to address limitations of current treatments, such as bone deformities and cardiac issues.
    • Early results suggest potential for improved outcomes, but further research is needed.

    Conclusions:

    • New therapeutic avenues show promise for MPS VI treatment, potentially complementing existing therapies.
    • Addressing specific clinical manifestations like bone and heart valve issues remains a critical goal.
    • Early diagnosis and timely treatment are paramount for improving patient prognosis in MPS VI.

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