AAV gene therapy for Tay-Sachs disease.

@article{Flotte2022AAVGT,
  title={AAV gene therapy for Tay-Sachs disease.},
  author={Terence R. Flotte and Oguz Cataltepe and A.S. Puri and Ana Rita Batista and Richard P. Moser and Diane M. McKenna-Yasek and Catherine L Douthwright and Gwladys Gernoux and Meghan Blackwood and Christian Mueller and Phillip W. L. Tai and Xuntian Jiang and Scot T. Bateman and Spiro G. Spanakis and Julia Parzych and Allison M. Keeler and Aly H Abayazeed and Saurabh Rohatgi and Laura L. Gibson and Robert Finberg and Bruce Barton and Zeynep Vardar and Mohammed Salman Shazeeb and Matthew J. Gounis and Cynthia J. Tifft and Florian S. Eichler and Robert H Brown and Douglas R Martin and Heather L. Gray-Edwards and Miguel Sena-Esteves},
  journal={Nature medicine},
  year={2022}
}
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 × 1014 vector genomes (vg)) in… 

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Towards gene therapy for Tay-Sachs disease.

  • D. Clyde
  • Medicine
    Nature reviews. Genetics
  • 2022

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