Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration
Abstract
The mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders that are caused by mutations in the genes involved in glycosaminoglycan breakdown. Multiple organs and tissues are affected, including the central nervous system. At present, hematopoietic stem cell transplantation and enzyme replacement therapies are approved for some of the (non-neurological) MPS. Treatments that effectively ameliorate the neurological aspects of the disease are being assessed in clinical trials. This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome).
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AAV vector administration to the CNS has an excellent safety and efficacy profile.
“AAV vector administration to the CNS has an excellent safety and efficacy profile.”
From AAVrh.10-Mediated APOE2 Central Nervous System Gene Therapy for APOE4-Associated Alzheimer's Disease (2018) · cites this paper as [58]
AAVrh.10-based vector has been administered to the brain of children with MPS-IIIA in clinical trials with no drug-related clinically relevant adverse events up to 4 years following treatment.
“AAVrh.10-based vector has been administered to the brain of children with MPS-IIIA in clinical trials with no drug-related clinically relevant adverse events up to 4 years following treatment.”
From AAVrh.10-Mediated APOE2 Central Nervous System Gene Therapy for APOE4-Associated Alzheimer's Disease (2018) · cites this paper as [58]
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 [58]
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Lu, V. M., Sanikommu, S., Vazquez, S. M., Roach, C. S., Shah, K. H., Oh, T., Ibrahim, G. M., Samdani, A. F., & Hwang, S. W. (2026) · Neurosurgical Review · doi:10.1007/s10143-026-04540-2
- Authors
- Lau, A. A., & Hemsley, K. M.
- Affiliations
- South Australian Health and Medical Research Institute (AU)
- Corresponding author
- Lau, Adeline A.
- Venue
- Journal of Molecular Medicine
- Published
- 2017-06-29
- Volume
- 95
- Issue
- 10
- Pages
- 1043-1052
- ISSN
- 0946-2716 (ISSN-L)
- 1432-1440
- OpenAlex
- W2730299814
- Cited by
- 9
- References
- 78
- Citations by year
- 2026: 1 · 2023: 1 · 2022: 1 · 2019: 1 · 2018: 4 · 2017: 1
- FWCI
- 0.20
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Molecular Medicine (publishedVersion)
- PubMed (publishedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Funders
- Sanfilippo Research Foundation
- Hospital Research Foundation
- Sanfilippo Children's Foundation
- National MPS Society
- National Health and Medical Research Council
- National Medical Research Council
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- mucopolysaccharidosis, adeno-associated virus vectors, neurodegeneration, lysosomal storage disease, glycosaminoglycan metabolism, Hurler syndrome, Hunter syndrome, Sanfilippo syndrome, clinical trials, preclinical evidence
- MeSH terms
- Dependovirus, Animals, Clinical Trials as Topic, Genetic Vectors, Glycosaminoglycans, Humans, Lysosomes, Mucopolysaccharidoses, Mutation, Genetic Therapy, Enzyme Replacement Therapy
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