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Updated: Jun 3, 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 for leukodystrophies
Alessandra Biffi1, Patrick Aubourg, Nathalie Cartier
1San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
Human Molecular Genetics
|April 5, 2011
Summary
Gene therapy using lentiviral vectors shows promise for treating inherited leukodystrophies (LDs) by correcting genetic defects in hematopoietic stem cells (HSCs). This approach has successfully halted the progression of X-linked adrenoleukodystrophy (X-ALD) and is advancing for other LDs.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Leukodystrophies (LDs) are inherited neurological disorders affecting myelin formation and maintenance.
- Molecular abnormalities in glial cells underlie the pathogenesis of LDs.
Purpose of the Study:
- To review the development and clinical application of gene therapy for specific leukodystrophies.
- To explore future gene therapy strategies for a broader range of LDs.
Main Methods:
- Gene therapy utilizing lentiviral vectors to transfer corrective genes into autologous hematopoietic stem cells (HSCs).
- Clinical application in X-linked adrenoleukodystrophy (X-ALD) and metachromatic leukodystrophy (MLD).
- Exploration of brain gene therapy with adeno-associated vectors and novel vector development for glial cell targeting.
Main Results:
- HSCs gene therapy has demonstrated efficacy in arresting the progression of X-ALD.
- Gene therapy strategies are entering clinical practice for X-ALD and MLD.
Conclusions:
- Hematopoietic stem cell gene therapy is a viable and effective treatment for certain leukodystrophies.
- Advancements in viral vector technology are expanding gene therapy options for other LDs, targeting oligodendrocytes and astrocytes.
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