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Related Experiment Video

Updated: May 8, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Developing therapeutic approaches for metachromatic leukodystrophy.

Shilpa A Patil1, Gustavo H B Maegawa

  • 1McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins School of Medicine, Baltimore, MD, USA.

Drug Design, Development and Therapy
|August 23, 2013
PubMed
Summary
This summary is machine-generated.

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Metachromatic leukodystrophy (MLD) is a genetic disorder affecting myelin. Emerging therapies like gene therapy and enzyme replacement show promise for treating this debilitating condition.

Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder.
  • It stems from arylsulfatase A (ASA) deficiency, impairing sulfatide degradation and myelin maintenance.
  • MLD causes progressive demyelination and severe neurological decline.

Purpose of the Study:

  • To review current and emerging therapeutic strategies for Metachromatic leukodystrophy.
  • To highlight challenges in MLD treatment development, including blood-brain barrier penetration and optimal intervention timing.

Main Methods:

  • Discussion of established treatments like hematopoietic stem cell transplantation (HSCT).
  • Exploration of novel approaches: intrathecal enzyme replacement therapy (ERT) and gene therapy.
Keywords:
arylsulfatase Aenzyme enhancement therapyenzyme replacement therapygene therapymetachromatic leukodystrophysmall molecules

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A Murine Ommaya Xenograft Model to Study Direct-Targeted Therapy of Leptomeningeal Disease
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Published on: January 29, 2021

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Last Updated: May 8, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

A Murine Ommaya Xenograft Model to Study Direct-Targeted Therapy of Leptomeningeal Disease
07:17

A Murine Ommaya Xenograft Model to Study Direct-Targeted Therapy of Leptomeningeal Disease

Published on: January 29, 2021

  • Review of preclinical cell delivery systems (microencapsulated, neural cells) and small molecule therapies.

    • Main Results:

    • Hematopoietic stem cell transplantation (HSCT) is an established treatment option.
    • Intrathecal ERT and gene therapies are promising novel strategies.
    • Small molecules show potential for enzyme enhancement, sulfatide reduction, and targeting downstream pathways.

    Conclusions:

    • Therapeutic strategies for MLD are expanding, with ongoing clinical trials.
    • Overcoming challenges like blood-brain barrier penetration is crucial for effective CNS therapies.
    • Complementary therapeutic approaches, used alone or in combination, are key to improving outcomes for MLD patients.