Gene therapy for metachromatic leukodystrophy
Open accessAbstract
Leukodystrophies (LDs) are rare, often devastating genetic disorders with neurologic symptoms. There are currently no disease‐specific therapeutic approaches for these diseases. In this review we use metachromatic leukodystrophy as an example to outline in the brief the therapeutic approaches to MLD that have been tested in animal models and in clinical trials, such as enzyme‐replacement therapy, bone marrow/umbilical cord blood transplants, ex vivo transplantation of genetically modified hematopoietic stem cells, and gene therapy. These studies suggest that to be successful the ideal therapy for MLD must provide persistent and high level expression of the deficient gene, arylsulfatase A in the CNS. Gene therapy using adeno‐associated viruses is therefore the ideal choice for clinical development as it provides the best balance of potential for efficacy with reduced safety risk. Here we have summarized the published preclinical data from our group and from others that support the use of a gene therapy with AAVrh.10 serotype for clinical development as a treatment for MLD, and as an example of the potential of gene therapy for LDs especially for Krabbe disease, which is the focus of this special issue. © 2016 Wiley Periodicals, Inc.
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The AAV serotypes most commonly used for clinical trials to date are AAV5, AAV9, and AAVrh.10.
“Of these AAV serotypes, the most commonly used for clinical trials to date are AAV5, AAV9, and AAVrh.10.”
From AAVrh.10-Mediated APOE2 Central Nervous System Gene Therapy for APOE4-Associated Alzheimer's Disease (2018) · cites this paper as [71]
The Overview of Adeno-associated Virus-mediated CNS Gene Therapy discusses AAV5, AAV9, and AAVrh.10, and Lessons Learned and Path Forward describes an AAVrh.10 clinical trial. But the paper does not say these are the most commonly used serotypes in clinical trials; its discussion of AAV5 concerns earlier studies, and it mentions AAV9 as a discovered serotype, not as a clinical-trial vector. (LLM, conf=0.85)
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CASE HISTORY OF METACHROMATIC LEUKODYSTROPHY OF 5 YEAR OLD CHILD
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Additional file 1 of A systematic review on the birth prevalence of metachromatic leukodystrophy
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Additional file 2 of A systematic review on the birth prevalence of metachromatic leukodystrophy
Chang, S.-C., Bergamasco, A., Bonnin, M., Bisonó, T. A., & Moride, Y. (2024) · Figshare · doi:10.6084/m9.figshare.26683729
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Gavazzi, F., Woidill, S., Sevagamoorthy, A., Jawad, A. F., D’Aiello, R., Bradford, J., Lerner, M., Hong, P., White, A., Tashnim, Z., et al. (2026) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2026.109866
Umair, M., Ali, R. H., & Alfadhel, M. (2026) · Current Genetic Medicine Reports · doi:10.1007/s40142-026-00261-6
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Kadam, A., & Deshmukh, S. (2026) · International journal of Nutrition Pharmacology Neurological Diseases · doi:10.4103/ijnpnd.ijnpnd_282_25
- Authors
- Rosenberg, J. B., Kaminsky, S. M., Aubourg, P., Crystal, R. G., & Sondhi, D.
- Affiliations
- Weill Cornell Medicine (US)
- Inserm (FR)
- Corresponding author
- Sondhi, Dolan
- Venue
- Journal of Neuroscience Research
- Publisher
- Wiley
- Published
- 2016-09-17
- Volume
- 94
- Issue
- 11
- Pages
- 1169-1179
- ISSN
- 0360-4012 (ISSN-L)
- 1097-4547
- PMC
- PMC5027970
- OpenAlex
- W2519801241
- Cited by
- 91
- References
- 101
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 16 · 2023: 11 · 2022: 11 · 2021: 12 · 2020: 11 · 2019: 7 · 2018: 8 · 2017: 4 · 2015: 1
- FWCI
- 0.74
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Neuroscience Research (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health, National Institute of Neurological Disorders and Stroke (U01NS066920)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- metachromatic leukodystrophy, gene therapy, arylsulfatase A, leukodystrophy, Krabbe disease, enzyme replacement therapy, hematopoietic stem cell transplantation, ex vivo gene therapy, animal models, clinical trials
- MeSH terms
- Animals, Cerebroside-Sulfatase, Disease Models, Animal, Humans, Leukodystrophy, Metachromatic, Genetic Therapy
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