Presentations:
Interim Safety and Efficacy of ATSN-201 Dose Escalation Study in Patients with X-Linked Retinoschisis (XLRS) – Presented at the 2024 American Academy of Ophthalmology Annual Meeting in October 2024
Preliminary Safety of ATSN-201 Subretinal Gene Therapy in Patients with X-linked Retinoschisis – Presented at the 2024 Foundation Fighting Blindness Retinal Cell and Gene Therapy Innovation Summit in May 2024
12-Month Safety and Efficacy of ATSN-101 in Patients with Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D (LCA1) – Presented at the 2024 Macula Society Annual Meeting in February 2024
IND-Enabling Studies to Support the Clinical Development of ATSN-201 for X-Linked Retinoschisis – Presented at the 2023 European Society of Gene and Cell Therapy Annual Congress in October 2023
6-Month Safety and Efficacy of ATSN-101 in Patients with Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D (LCA1) – Presented at the 2023 Association for Research in Vision and Ophthalmology Annual Meeting in April 2023
3-Month Safety and Efficacy of ATSN-101 in Patients with Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D (LCA1) – Presented at the 2022 American Academy of Ophthalmology Annual Meeting in October 2022
Publications:
Yang P, Pardon LP, Ho AC, Lauer AK, Yoon D, Boye SE, Boye SL, Roman AJ, Wu V, Garafalo AV, Sumaroka A, Swider M, Viarbitskaya I, Aleman TS, Pennesi ME, Kay CN, Fujita KP, & Cideciyan AV. Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: A phase 1/2, multicentre, open-label, unilateral dose escalation study. The Lancet. 2024 Sep 05;404(10456): 962–970. https://doi.org/10.1016/s0140-6736(24)01447-8
Jacobson SG, Cideciyan AV, Ho AC, Peshenko IV, Garafalo AV, Roman AJ, Sumaroka A, Wu V, Krishnan AK, Sheplock R, Boye SL, Dizhoor AM, Boye SE. Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations. iScience. 2021 Apr 11;24(5):102409. doi: https://doi.org/10.1016/j.isci.2021.102409
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. Am J Ophthalmol. 2017 May;177:44-57. doi: https://doi.org/10.1016/j.ajo.2017.02.003
Boye SL, Olshevskaya EV, Peshenko IV, McCullough KT, Boye SE, Dizhoor AM. Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas. Mol Vis. 2016 Nov 10;22:1342-1351. https://pubmed.ncbi.nlm.nih.gov/27881908/
Sanford L. Boye, James J. Peterson, Shreyasi Choudhury, Seok Hong Min, Qing Ruan, K. Tyler McCullough, Zhonghong Zhang, Elena V. Olshevskaya, Igor V. Peshenko, William W. Hauswirth, Xi-Qin Ding, Alexander M. Dizhoor, and Shannon E. Boye. Human Gene Therapy. Sep 2015.575-592. doi: http://doi.org/10.1089/hum.2015.053
Boye SE (2014) Insights gained from gene therapy in animal models of retGC1 deficiency. Front. Mol. Neurosci. 7:43. doi: https://doi.org/10.3389/fnmol.2014.00043
Boye SE. Leber congenital amaurosis caused by mutations in GUCY2D. Cold Spring Harb Perspect Med. 2014 Sep 25;5(1):a017350. doi: 10.1101/cshperspect.a017350
Boye SL, Conlon T, Erger K, Ryals R, Neeley A, Cossette T, Pang J, Dyka FM, Hauswirth WW, Boye SE. Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse. Invest Ophthalmol Vis Sci. 2011 Sep 9;52(10):7098-108. doi: https://doi.org/10.1167/iovs.11-7867
Boye SE, Boye SL, Pang J, Ryals R, Everhart D, Umino Y, et al. (2010) Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse. PLoS ONE 5(6): e11306. doi: https://doi.org/10.1371/journal.pone.0011306
