dc.contributor
Institut Català de la Salut
dc.contributor
[de Castro MJ, Couce ML] Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain. IDIS, Health Research Institute of Santiago de Compostela, 15704 Santiago de Compostela, Spain. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain. MetabERN, European Reference Network for Hereditary Metabolic Disorders, 33100 Udine, Italy. [Del Toro M] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain. MetabERN, European Reference Network for Hereditary Metabolic Disorders, 33100 Udine, Italy. Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. CIBERER, MetabERN, Barcelona, Spain. [Giugliani R] Medical Genetics Service, Gene Therapy Center, Medical Genetics Clinical Research Group, Biodiscovery Research Group, HCPA, Porto Alegre 90035-903, Brazil. Department of Genetics, UFRGS, Porto Alegre 91501-970, Brazil. DASA/GeneOne, São Paulo 04078-013, Brazil
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
de Castro, María José
dc.contributor.author
del Toro Riera, Mireia
dc.contributor.author
Giugliani, Roberto
dc.contributor.author
Couce, Maria Luz
dc.date.accessioned
2025-10-24T10:19:46Z
dc.date.available
2025-10-24T10:19:46Z
dc.date.issued
2022-04-22T13:24:23Z
dc.date.issued
2022-04-22T13:24:23Z
dc.identifier
de Castro MJ, Del Toro M, Giugliani R, Couce ML. Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art. Int J Mol Sci. 2021 Sep;22(17):9200.
dc.identifier
https://hdl.handle.net/11351/7380
dc.identifier
10.3390/ijms22179200
dc.identifier
000694389400001
dc.identifier.uri
https://hdl.handle.net/11351/7380
dc.description.abstract
Virus adeno associat; Lentivirus; Vectors virals
dc.description.abstract
Virus adenoasociado; Lentivirus; Vectores virales
dc.description.abstract
Adeno-associated virus; Lentivirus; Viral vectors
dc.description.abstract
The need for long-lasting and transformative therapies for mucopolysaccharidoses (MPS) cannot be understated. Currently, many forms of MPS lack a specific treatment and in other cases available therapies, such as enzyme replacement therapy (ERT), do not reach important areas such as the central nervous system (CNS). The advent of newborn screening procedures represents a major step forward in early identification and treatment of individuals with MPS. However, the treatment of brain disease in neuronopathic MPS has been a major challenge to date, mainly because the blood brain barrier (BBB) prevents penetration of the brain by large molecules, including enzymes. Over the last years several novel experimental therapies for neuronopathic MPS have been investigated. Gene therapy and gene editing constitute potentially curative treatments. However, despite recent progress in the field, several considerations should be taken into account. This review focuses on the state of the art of in vivo and ex vivo gene therapy-based approaches targeting the CNS in neuronopathic MPS, discusses clinical trials conducted to date, and provides a vision for the future implications of these therapies for the medical community. Recent advances in the field, as well as limitations relating to efficacy, potential toxicity, and immunogenicity, are also discussed.
dc.description.abstract
This research received no external funding.
dc.format
application/pdf
dc.relation
International Journal of Molecular Sciences;22(17)
dc.relation
https://doi.org/10.3390/ijms22179200
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Metabolisme, Errors congènits del - Tractament
dc.subject
Teràpia genètica
dc.subject
DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Mucopolysaccharidoses
dc.subject
Other subheadings::Other subheadings::Other subheadings::/genetics
dc.subject
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy
dc.subject
ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::mucopolisacaridosis
dc.subject
Otros calificadores::Otros calificadores::Otros calificadores::/genética
dc.subject
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética
dc.title
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
