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Updated: Jun 17, 2026
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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Gene therapy in metachromatic leukodystrophy
C Sevin1, N Cartier-Lacave, P Aubourg
1French Institute for Health and Medical Research, Paris Descartes University and Department of Pediatric Neurology, Hôpital Saint-Vincent de Paul, Paris, France.
International Journal of Clinical Pharmacology and Therapeutics
|December 31, 2009
Summary
Metachromatic leukodystrophy (MLD) is a rare genetic disorder. This review explores gene therapy using hematopoietic stem cells or direct brain gene transfer as potential treatments for MLD patients.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Metachromatic leukodystrophy (MLD) is a lysosomal storage disease.
- It stems from arylsulfatase A enzyme deficiency.
- This deficiency causes harmful sulfatide buildup in the brain and nervous system.
Purpose of the Study:
- To review the therapeutic potential of gene therapy for MLD.
- Focuses on hematopoietic stem cell gene therapy and intracerebral gene transfer.
Main Methods:
- Review of existing literature on MLD.
- Analysis of gene therapy approaches for lysosomal storage diseases.
Main Results:
- Hematopoietic stem cell gene therapy shows promise for MLD treatment.
- Intracerebral gene transfer is another viable therapeutic strategy.
Conclusions:
- Gene therapy offers a potential treatment avenue for MLD.
- Further research is needed to optimize these gene therapy approaches for MLD.
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