AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency
Lei Zhu, Brandon Tan, Selina S. Dwight, Brendan J. Beahm, Matt Wilsey, Brett E. Crawford, Becky Schweighardt, Jennifer Cook, Thomas Wechsler, William F. Mueller
Abstract
rats. ICV and IV + ICV administration of GS-100 resulted in behavioral improvements in rotarod and rearing tests, whereas IV-only administration did not. IV + ICV did not provide additional benefit compared with ICV administration alone. These data provide evidence that GS-100 could be an effective therapy for NGLY1 Deficiency using the ICV route of administration.
Topics & Concepts
MedicinePharmacologyGenetic enhancementBiomarkerInternal medicineEndocrinologyBiologyGeneBiochemistryPancreatic function and diabetesAdenosine and Purinergic SignalingGenetics and Neurodevelopmental Disorders