BackSystematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems
| dc.contributor.author | Beraza Millor, Marina  | |
| dc.contributor.author | Rodríguez Castejón, Julen | |
| dc.contributor.author | Del Pozo Rodríguez, Ana | |
| dc.contributor.author | Rodríguez Gascón, Alicia | |
| dc.contributor.author | Solinís Aspiazu, María Ángeles | |
| dc.date.accessioned | 2024-10-08T16:50:57Z | |
| dc.date.available | 2024-10-08T16:50:57Z | |
| dc.date.issued | 2024-09 | |
| dc.identifier.citation | BioDrugs 38(5) : 657-680 (2024) | es_ES |
| dc.identifier.issn | 1173-8804 | |
| dc.identifier.issn | 1179-190X | |
| dc.identifier.uri | http://hdl.handle.net/10810/69789 | |
| dc.description.abstract | Background Genetic substrate reduction therapy (gSRT), which involves the use of nucleic acids to downregulate the genes involved in the biosynthesis of storage substances, has been investigated in the treatment of lysosomal storage diseases (LSDs). Objective To analyze the application of gSRT to the treatment of LSDs, identifying the silencing tools and delivery systems used, and the main challenges for its development and clinical translation, highlighting the contribution of nanotechnology to overcome them. Methods A systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) reporting guidelines was performed. PubMed, Scopus, and Web of Science databases were used for searching terms related to LSDs and gene-silencing strategies and tools. Results Fabry, Gaucher, and Pompe diseases and mucopolysaccharidoses I and III are the only LSDs for which gSRT has been studied, siRNA and lipid nanoparticles being the silencing strategy and the delivery system most frequently employed, respectively. Only in one recently published study was CRISPR/Cas9 applied to treat Fabry disease. Specific tissue targeting, availability of relevant cell and animal LSD models, and the rare disease condition are the main challenges with gSRT for the treatment of these diseases. Out of the 11 studies identified, only two gSRT studies were evaluated in animal models. Conclusions Nucleic acid therapies are expanding the clinical tools and therapies currently available for LSDs. Recent advances in CRISPR/Cas9 technology and the growing impact of nanotechnology are expected to boost the clinical translation of gSRT in the near future, and not only for LSDs. | es_ES |
| dc.description.sponsorship | This research was funded by MCIU/AEI/FEDER,UE, grant number RTI2018-098672-B-I00, and by the Basque Government, grant number IT1587-22, GIC21/34. The research grants of M. Beraza-Millor (PIF21/61) and J. Rodríguez-Castejón (PRE_2020_2_01164) were funded by the University of Basque Country UPV/EHU and the Basque Government, respectively. | es_ES |
| dc.language.iso | eng | es_ES |
| dc.publisher | Springer Nature | es_ES |
| dc.relation | info:eu-repo/grantAgreement/MICIU/RTI2018-098672-B-I00 | es_ES |
| dc.rights | info:eu-repo/semantics/openAccess | es_ES |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/3.0/es/ | * |
| dc.title | Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems | es_ES |
| dc.type | info:eu-repo/semantics/article | es_ES |
| dc.rights.holder | © The Author(s) 2024. This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/. | es_ES |
| dc.relation.publisherversion | https://link.springer.com/article/10.1007/s40259-024-00674-1 | es_ES |
| dc.identifier.doi | 10.1007/s40259-024-00674-1 | |
| dc.departamentoes | Farmacia y ciencias de los alimentos | es_ES |
| dc.departamentoeu | Farmazia eta elikagaien zientziak | es_ES |
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Except where otherwise noted, this item's license is described as © The Author(s) 2024. This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/.