AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease
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AAV-mediated gene transfer to ependymal cells in a dog model of Batten disease provides sustained enzyme replacement and delays disease onset.
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The slow pulsatile flow of the CSF allows movement of the vector around the brain without additional surgeries for effective coverage of the CNS.
“the slow pulsatile flow of the CSF allows movement of the vector around the brain without additional surgeries for effective coverage of the CNS”
From AAVrh.10-Mediated APOE2 Central Nervous System Gene Therapy for APOE4-Associated Alzheimer's Disease (2018) · cites this paper as [89]
The Introduction describes a single unilateral rAAV infusion, and the Discussion says CSF-based delivery can avoid major neurosurgery while producing broad TPP1 distribution in dogs. But the Results attribute widespread brain coverage to TPP1 protein secreted by transduced ependymal cells, not to vector moving throughout the brain. The paper does not describe CSF flow as slow or pulsatile. (LLM, conf=0.86)
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- [22]Vuillemenot BR Kennedy D Cooper JD Wong AMS Sri S Doeleman T Katz ML Coates JR Johnson GC Reed RP Adams EL Butt MT Musson DG Henshaw J Keve S Cahayag R Tsuruda LS O’Neill CA Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis Mol Genet Metab 114 281 293 2015 25257657
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- Authors
- Katz, M. L., Tecedor, L., Chen, Y., Williamson, B. G., Lysenko, E., Wininger, F. A., Young, W. M., Johnson, G. C., Whiting, R. E. H., Coates, J. R., & Davidson, B. L.
- Affiliations
- University of Missouri (US)
- Children's Hospital of Philadelphia (US)
- The Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA.
- Corresponding author
- Katz, Martin L.
- Tecedor, Luis
- Chen, Yonghong
- Davidson, Beverly L.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2015-11-11
- Volume
- 7
- Issue
- 313
- Pages
- 313ra180-313ra180
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC4968409
- OpenAlex
- W2174260594
- Cited by
- 134
- References
- 36
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 9 · 2023: 13 · 2022: 15 · 2021: 15 · 2020: 14 · 2019: 16 · 2018: 17 · 2017: 15 · 2016: 8 · 2015: 1
- FWCI
- 10.07
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NIH (NS068099, NS077516, EY023968)
- Roy J. Carver Trust
- Batten Disease Support and Research Association
- Children's Hospital of Philadelphia Research Institute
- Jasper Against Batten Fund at Partnership for Cures
- Blake's Purpose Foundation
- 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 › Molecular Biology › RNA Interference and Gene Delivery
- Keywords
- Batten disease, late infantile neuronal ceroid lipofuscinosis, tripeptidyl peptidase 1, recombinant adeno-associated virus, gene therapy, canine model, lysosomal storage disease, neurodegeneration, cognitive decline, lifespan extension
- MeSH terms
- Tripeptidyl-Peptidase 1, Dependovirus, Aminopeptidases, Animals, Cerebral Ventricles, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Disease Models, Animal, Dogs, Genetic Vectors, Neuronal Ceroid-Lipofuscinoses, Transduction, Genetic, Enzyme Replacement Therapy, Serine Proteases
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