ArticleMolecular therapy : the journal of the American Society of Gene Therapy2017
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
34 citing papers in PubMed, 55 citations in OpenAlex.
- Expanded Access use of Intravenous Gene Transfer with AAV9-GLB1 in a Juvenile GM1 Gangliosidosis Participant.medRxiv : the preprint server for health sciences · 2026Article
- Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?JIMD reports · 2026Article
- The Critical Role of Vitamin D Supplementation for Skeletal and Neurodevelopmental Outcomes in Preterm Neonates.Nutrients · 2025Review
- Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.Molecular genetics and metabolism reports · 2025Article
- Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.Clinical and translational science · 2025Review
- Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene.Frontiers in pediatrics · 2025Article
- Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency.Molecular genetics and metabolism · 2025Article
- Neuroimaging Applications for the Delivery and Monitoring of Gene Therapy for Central Nervous System Diseases.Human gene therapy · 2024Review
- Imaging of adeno-associated viral capsids for purposes of gene editing using CEST NMR/MRI.Magnetic resonance in medicine · 2024Article
- Therapeutic developments for neurodegenerative GM1 gangliosidosis.Frontiers in neuroscience · 2024Review
- Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy.Annals of neurology · 2023Article
- AAV-based in vivo gene therapy for neurological disorders.Nature reviews. Drug discovery · 2023Review
- A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis.EBioMedicine · 2023Article
- Ganglioside GM1 and the Central Nervous System.International journal of molecular sciences · 2023Review
- AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates.Molecular therapy. Methods & clinical development · 2022Article
- Facial features of lysosomal storage disorders.Expert review of endocrinology & metabolism · 2022Article
- Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.Biomedicines · 2022Article
- Rare Diseases in Glycosphingolipid Metabolism.Advances in experimental medicine and biology · 2022Article
- Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an UnbiasedCells · 2021Article
- GM1 Gangliosidosis: Mechanisms and Management.The application of clinical genetics · 2021Review
Corrections and comments
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Authors and funding
24 authors at 5 institutions in 1 country.
Funding
Abstract
GM1 gangliosidosis is a fatal neurodegenerative disease that affects individuals of all ages. Favorable outcomes using adeno-associated viral (AAV) gene therapy in GM1 mice and cats have prompted consideration of human clinical trials, yet there remains a paucity of objective biomarkers to track disease status. We developed a panel of biomarkers using blood, urine, cerebrospinal fluid (CSF), electrodiagnostics, 7 T MRI, and magnetic resonance spectroscopy in GM1 cats-either untreated or AAV treated for more than 5 years-and compared them to markers in human GM1 patients where possible. Significant alterations were noted in CSF and blood of GM1 humans and cats, with partial or full normalization after gene therapy in cats. Gene therapy improved the rhythmic slowing of electroencephalograms (EEGs) in GM1 cats, a phenomenon present also in GM1 patients, but nonetheless the epileptiform activity persisted. After gene therapy, MR-based analyses revealed remarkable preservation of brain architecture and correction of brain metabolites associated with microgliosis, neuroaxonal loss, and demyelination. Therapeutic benefit of AAV gene therapy in GM1 cats, many of which maintain near-normal function >5 years post-treatment, supports the strong consideration of human clinical trials, for which the biomarkers described herein will be essential for outcome assessment.
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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.