ArticleProceedings of the National Academy of Sciences of the United States of America2002
Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Preclinical efficacy and safety of adeno-associated virus 5 alpha-galactosidase: A gene therapy for Fabry disease.Molecular therapy. Methods & clinical development · 2024Article
- Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.Journal of translational medicine · 2024Review
- Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease.Gene therapy · 2023Article
- Treatment of Fabry Disease: Established and Emerging Therapies.Pharmaceuticals (Basel, Switzerland) · 2023Review
- Galactomannan-Decorated Lipidic Nanocarrier for Gene Supplementation Therapy in Fabry Disease.Nanomaterials (Basel, Switzerland) · 2022Article
- AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study.Molecular therapy. Methods & clinical development · 2021Article
- α-Galactosidase A Augmentation by Non-Viral Gene Therapy: Evaluation in Fabry Disease Mice.Pharmaceutics · 2021Article
- Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development.Biomolecules · 2021Review
- New drugs for the treatment of Anderson-Fabry disease.Journal of nephrology · 2021Review
- Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases.Genetics and molecular biology · 2019Article
- Promise of adeno-associated virus as a gene therapy vector for cardiovascular diseases.Heart failure reviews · 2017Review
- Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.Current treatment options in neurology · 2016Review
- Multimodal photoacoustic ophthalmoscopy in mouse.Journal of biophotonics · 2013Article
- Multicomponent nanoparticles as nonviral vectors for the treatment of Fabry disease by gene therapy.Drug design, development and therapy · 2012Article
- Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase.Human gene therapy · 2011Article
- AAV vectors for cardiac gene transfer: experimental tools and clinical opportunities.Molecular therapy : the journal of the American Society of Gene Therapy · 2011Review
- Sequencing and characterization of the porcine α-galactosidase A gene: towards the generation of a porcine model for Fabry disease.Molecular biology reports · 2011Article
- Fabry disease.Orphanet journal of rare diseases · 2010Review
- Cardiac-targeted delivery of regulatory RNA molecules and genes for the treatment of heart failure.Cardiovascular research · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is a systemic disease caused by genetic deficiency of a lysosomal enzyme, alpha-galactosidase A (alpha-gal A), and is thought to be an important target for enzyme replacement therapy. We studied the feasibility of gene-mediated enzyme replacement for Fabry disease. The adeno-associated virus (AAV) vector containing the alpha-gal A gene was injected into the right quadriceps muscles of Fabry knockout mice. A time course study showed that alpha-gal A activity in plasma was increased to approximately 25% of normal mice and that this elevated activity persisted for up to at least 30 weeks without development of anti-alpha-gal A antibodies. The alpha-gal A activity in various organs of treated Fabry mice remained 5-20% of those observed in normal mice. Accumulated globotriaosylceramide in these organs was completely cleared by 25 weeks after vector injection. Reduction of globotriaosylceramide levels was also confirmed by immunohistochemical and electronmicroscopic analyses. Echocardiographic examination of treated mice demonstrated structural improvement of cardiac hypertrophy 25 weeks after the treatment. AAV vector-mediated muscle-directed gene transfer provides an efficient and practical therapeutic approach for Fabry disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.