ArticleNature medicine2022
AAV gene therapy for Tay-Sachs disease.
Open access · greenAbstract read
In one paragraph
Article in Nature medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed, 3 pooled it
17.7field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
84 citing papers in PubMed, 3 syntheses or guidelines pooled it, 127 citations in OpenAlex.
- Incidence, timing, and clinical significance of adverse immune events after gene replacement therapy: A systematic review and meta-analysis.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Pooled it
- A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Pooled it
- Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders-Implications for Individuals with Rett Syndrome: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.The New England journal of medicine · 2026Trial
- Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.Nature medicine · 2025Trial
- Expanded Access use of Intravenous Gene Transfer with AAV9-GLB1 in a Juvenile GM1 Gangliosidosis Participant.medRxiv : the preprint server for health sciences · 2026Article
- Cerebrospinal delivery of a bidirectional AAV9 vector improves optic nerve and retinal pathology in a sheep model of Tay-Sachs disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases.Journal of neurology · 2026Article
- Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot.American journal of ophthalmology case reports · 2026Article
- Review
- AAV gene therapy for homozygous familial hypercholesterolemia: a phase 1 trial.Nature medicine · 2026Article
- AAV-based gene therapy with modified HEXB confers lasting therapeutic benefits in GM2 gangliosidosis models.Cell reports. Medicine · 2026Article
- An improved method for high-purity isolation of oligodendrocytes from neonatal and adult mouse brain.iScience · 2026Article
- Molecular and Genetic Aspects of Lipid Metabolism Disorders and Potential Targets for Gene Therapy.Journal of lipid and atherosclerosis · 2026Review
- Modulating nuclear stiffness and envelope barrier facilitates AAV nuclear entry and reduces immunogenicity.Nature communications · 2026Article
- Targeting amyloid-β pathology by chimeric antigen receptor astrocyte (CAR-A) therapy.Science (New York, N.Y.) · 2026Article
- Review
- Genetic therapies for neurological diseases.Pharmacological reviews · 2026Review
- Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases.Frontiers in cell and developmental biology · 2026Review
- Lysosomal Neuraminidase 1 (NEU1): Its Unique Molecular Characters and Therapeutic Approaches for Deficiencies.Advances in experimental medicine and biology · 2026Review
24 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
30 authors at 6 institutions in 1 country.
Terence R FlotteDepartment of Pediatrics, UMass Chan Medical School, Worcester, MA, USA. Terry.Flotte@umassmed.edu.ORCID http://orcid.org/0000-0002-8255-0588
Oguz CataltepeDepartment of Pediatrics, UMass Chan Medical School, Worcester, MA, USA.
Ajit PuriDepartment of Radiology, UMass Chan Medical School, Worcester, MA, USA.
Ana Rita BatistaHorae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research, UMass Chan Medical School, Worcester, MA, USA.
Richard MoserDepartment of Neurosurgery, UMass Chan Medical School, Worcester, MA, USA.
Diane McKenna-YasekDepartment of Neurology, UMass Chan Medical School, Worcester, MA, USA.
Catherine DouthwrightDepartment of Neurology, UMass Chan Medical School, Worcester, MA, USA.
Gwladys GernouxDepartment of Pediatrics, UMass Chan Medical School, Worcester, MA, USA.ORCID http://orcid.org/0000-0002-1268-7001
Meghan BlackwoodDepartment of Pediatrics, UMass Chan Medical School, Worcester, MA, USA.
Christian MuellerDepartment of Pediatrics, UMass Chan Medical School, Worcester, MA, USA.
Phillip W L TaiHorae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research, UMass Chan Medical School, Worcester, MA, USA.ORCID http://orcid.org/0000-0001-7409-8344
Xuntian JiangDepartment of Medicine and Cardiovascular Division, Washington University School of Medicine, St. Louis, MO, USA.ORCID http://orcid.org/0000-0001-9048-7294
Scot BatemanDepartment of Pediatrics, UMass Chan Medical School, Worcester, MA, USA.
Spiro G SpanakisDepartments of Anesthesiology and Perioperative Medicine, UMass Chan Medical School, Worcester, MA, USA.
Julia ParzychDepartments of Anesthesiology and Perioperative Medicine, UMass Chan Medical School, Worcester, MA, USA.
Allison M KeelerDepartment of Pediatrics, UMass Chan Medical School, Worcester, MA, USA.ORCID http://orcid.org/0000-0002-5202-4616
Aly AbayazeedDepartment of Radiology, UMass Chan Medical School, Worcester, MA, USA.
Saurabh RohatgiDepartment of Radiology, UMass Chan Medical School, Worcester, MA, USA.
Laura GibsonDepartment of Pediatrics, UMass Chan Medical School, Worcester, MA, USA.
Robert FinbergDepartment of Internal Medicine, UMass Chan Medical School, Worcester, MA, USA.
Bruce A BartonPopulation and Quantitative Health Sciences, UMass Chan Medical School, Worcester, MA, USA.
Zeynep VardarDepartment of Radiology, UMass Chan Medical School, Worcester, MA, USA.ORCID http://orcid.org/0000-0002-7510-9524
Mohammed Salman ShazeebDepartment of Radiology, UMass Chan Medical School, Worcester, MA, USA.
Matthew GounisDepartment of Radiology, UMass Chan Medical School, Worcester, MA, USA.ORCID http://orcid.org/0000-0002-8034-2785
Cynthia J TifftNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Florian S EichlerDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Robert H BrownHorae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research, UMass Chan Medical School, Worcester, MA, USA.ORCID http://orcid.org/0000-0001-6062-1528
Douglas R MartinScott-Ritchey Research Center, Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL, USA.ORCID http://orcid.org/0000-0002-3444-8407
Heather L Gray-EdwardsHorae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research, UMass Chan Medical School, Worcester, MA, USA.
Miguel Sena-EstevesHorae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research, UMass Chan Medical School, Worcester, MA, USA. Miguel.esteves@umassmed.edu.ORCID http://orcid.org/0000-0003-0854-0143
University of Massachusetts Chan Medical School · USUMass Memorial Health Care · USAuburn University · USHarvard University · USNational Institutes of Health · USWashington University in St. Louis · US
Funding
WU P&FP30DK020579 · NIDDK · WASHINGTON UNIVERSITY · PI Jennifer Lynn Powers Carson · 2013 to 2026
$27.1MPathogenesis informs therapy in the GM1 and GM2 GangliosidosesZIAHG200409 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI TIFFT, CYNTHIA · 2020 to 2025
$4.1MNIDDK NIH HHS P30 DK020579
Abstract
Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy expanded-access trial in two patients with infantile TSD (IND 18225) with safety as the primary endpoint and no secondary endpoints. Patient TSD-001 was treated at 30 months with an equimolar mix of AAVrh8-HEXA and AAVrh8-HEXB administered intrathecally (i.t.), with 75% of the total dose (1 × 10
Indexed as
Tay-Sachs DiseaseAnticonvulsantsDependovirusGenetic TherapyHumansAnticonvulsants
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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.