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Retina October 2024

Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

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Maureen G. Maguire; David G. Birch; Jacque L. Duncan; Allison R. Ayala; Lauren N. Ayton; Janet K. Cheetham; Peiyao Cheng; Todd A. Durham; Frederick L. Ferris, III; Carel B. Hoyng; Rachel M. Huckfeldt; Glenn J. Jaffe; Christine Kay; Eleonora M. Lad; Bart P. Leroy; Wendi Liang; Lee S. McDaniel; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Lassana Samarakoon; on behalf of the REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: cohort studies, eye, natural history, outcome measures, retinal degeneration, sample size, surrogate endpoints, vision, united states food and drug administration, perimetry
Trans. Vis. Sci. Tech.. 2024; 13(10):15. https://doi.org/10.1167/tvst.13.10.15

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Retinal Imaging Analysis and Proteomic Profiling Reveals Sexual Dimorphism in the Retina of C57BL6/J Mice

Quinn Rose Caron; Rupesh Singh; Julia Batoki; Geeng-Fu Jang; Jack S Crabb; Allison Grenell; Alyson Wolk; Christie Kay Campla; Bo Hu; Mariya Ali; Belinda Wilard; Shiming Luo; Bela Anand-Apte

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6433.

ARVO Annual Meeting Abstract June 2024

Longitudinal imaging of the parafoveal cone mosaic in congenital achromatopsia

Nickolas Chen; Katie M Litts; Danica Nikezic; Christopher S Langlo; Brian P Higgins; Byron L Lam; Fred Collison; Mark E Pennesi; Christine Nichols Kay; Sergey Tarima; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1428.

ARVO Annual Meeting Abstract June 2024

Photoreceptor structure following gene therapy in CNGA3 -mediated Achromatopsia: adaptive optics imaging results from a Phase 1/2 dose escalation clinical trial for AGTC-402 (rAAV2tYF-PR1.7-hCNGA3)

Yu You Jiang; Peiluo Xu; Christine Nichols Kay; Robert Sisk; Rachel M Huckfeldt; Jason Comander; Byron L Lam; Ninel Z. Gregori; Audina Berrocal; Mark E Pennesi; Andreas K Lauer; Amy Christenson; Nadia K Waheed; Jessica Ijams Wolfing Morgan

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3289.

ARVO Annual Meeting Abstract June 2024

Gildeuretinol Enables the Vitamin A Cycle

Hendrik P Scholl; Leonide Saad; Gabrielle DeBartolomeo; Neil M Bressler; Stephen H Tsang; Kimberly E Stepien; Paul S Bernstein; Byron L Lam; Michael B Gorin; Ilyas Washington; Christine Nichols Kay

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6438.

ARVO Annual Meeting Abstract June 2024

Gildeuretinol Arrested Stargardt Disease, The TEASE-3 Study

Michael B Gorin; Leonide Saad; Gabrielle DeBartolomeo; Ilyas Washington; Hendrik P Scholl; Marc T. Mathias; Philip Ferrone; Christine Nichols Kay

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3310.

Perspective June 2023

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

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David G. Birch; Janet K. Cheetham; Stephen P. Daiger; Carel Hoyng; Christine Kay; Ian M. MacDonald; Mark E. Pennesi; Lori S. Sullivan
TAGS: gene therapy, mutation, natural history, phenotype, retinitis pigmentosa, x-linked inheritance, disease progression, blindness, retinal diseases, surrogate endpoints
Trans. Vis. Sci. Tech.. 2023; 12(6):5. https://doi.org/10.1167/tvst.12.6.5

ARVO Annual Meeting Abstract June 2023

Hepatic HIF Stabilization by Novel Carbonyl Glycine Derivatives Protects Against Oxygen-Induced Retinopathy

Christie Kay Campla; George Hoppe; Demiana Hanna; Andrew Dale Benos; Vara Prasad Josyula; Shaun Stauffer; Juliana Woda; Jonathan E Sears

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):579.

ARVO Annual Meeting Abstract June 2023

HIF Stabilization Induces Reductive Carboxylation

Andrew Dale Benos; George Hoppe; Demiana Hanna; Christie Kay Campla; Jonathan E Sears

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1607.

ARVO Annual Meeting Abstract June 2023

Interim results for the Phase 1/2 PRISM Trial evaluating 4D-150, a dual-transgene intravitreal genetic medicine in individuals with neovascular (wet) age-related macular degeneration

Arshad M. Khanani; Vrinda S Hershberger; Christine Nichols Kay; Allen Hu; David Aaron Eichenbaum; Glenn J Jaffe; Carol Chung; Somayeh Honarmand; Chyong Nien; Schonmei Lee; Harsha Kabra; David Kirn; Robert Kim

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5055.

ARVO Annual Meeting Abstract June 2023

Six-month safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D (LCA1)

Christine Nichols Kay; Paul Yang; Artur V Cideciyan; Allen Ho; Andreas K Lauer; Shannon E Boye; Sanford L Boye; Alejandro J Roman; Vivian Wu; Alexandra V Garafalo; Alexander Sumaroka; Laura P Pardon; Dan Yoon; Kenji P Fujita; Samuel Jacobson

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1914.

Vision Sciences Society Annual Meeting Abstract December 2022

Visual attenuation of reactions to misophonic trigger sounds

Nicolas Davidenko; Patrawat Samermit; Michael Young; Ghazaleh Mahzouni; Allison Allen; Hannah Trillo; Sandhya Shankar; Abigail Klein; Chris Kay; Veronica Hamilton

Journal of Vision. 2022; 22(14):4019. https://doi.org/10.1167/jov.22.14.4019

ARVO Annual Meeting Abstract June 2022

Psychometric validation of patient-reported outcome (PRO) and observer-reported outcome (ObsRO) measures in Retinitis Pigmentosa and Leber Congenital Amaurosis

Isabelle S Audo; Nicola Williamson; Melissa Barclay; Joel Sims; Kieran Boparai; Francesco Patalano; Christel Naujoks; Claudio Spera; Judit Banhazi; Paul O’Brien; Christine Kay; Jane Green; Todd Durham; Helena Bradley; M Dominik Fischer

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2663.

ARVO Annual Meeting Abstract June 2022

Findings on visual photosensitivity in two phase 1/2 clinical trials of subretinal gene therapy with AGTC-401 and AGTC-402 for CNGB3 and CNGA3 achromatopsia

Rachel M Huckfeldt; Jason Comander; Mark E Pennesi; Paul Yang; Andreas Lauer; Robert Sisk; Edward Averbukh; Eyal Banin; Ninel Z Gregori; Janet L Davis; Byron L Lam; Christine Nichols Kay; Jessica Ijams Wolfing Morgan; Joseph Carroll; Bright Senyo Ashimatey; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):450.

ARVO Annual Meeting Abstract June 2022

Generation of qualitative evidence to support the content validity of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis

Christine Nichols Kay; Isabelle S Audo; Helena Bradley; Melissa Barclay; Joel Sims; Kieran Boparai; Francesco Patalano; Christel Naujoks; Claudio Spera; Daniel Viriato; M Dominik Fischer; Jane Green; Todd Durham; Nicola Williamson; Judit Banhazi

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1711 – F0029.

ARVO Annual Meeting Abstract June 2022

Interim Safety Results in Two Phase 1/2 Open-label, Dose-escalation Clinical Trials of Subretinal Gene Therapy with AGTC-401 (rAAV2tYF-PR1.7-hCNGB3) and AGTC-402 (rAAV2tYF-PR1.7-hCNGA3) in Subjects with Achromatopsia (ACHM)

Alessandro Iannaccone; Mark E Pennesi; Paul Yang; Andreas Lauer; Robert Sisk; Ninel Z Gregori; Janet L Davis; Byron L Lam; Christine Nichols Kay; Mauro Goldbaum; Bright Senyo Ashimatey; Feng Zhu; Matthew Feinsod; Lejla Vajzovic

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2829 – A0345.

ARVO Annual Meeting Abstract June 2021

Qualitative interviews with patients and caregivers regarding visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life in RPE65-related Retinitis Pigmentosa and Leber Congenital Amaurosis

Christine Kay; Nicola Williamson; Helena Bradley; Melissa Barclay; Joel Sims; Rob Arbuckle; Claudio Spera; Christel Naujoks; Nuzhat Afroz; M Dominik Fischer; Isabelle Audo; Todd Durham; Francesco Patalano; Judit Banhazi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3589.

ARVO Annual Meeting Abstract June 2021

Twelve-month Findings from Two Phase 1/2 Clinical Studies of Subretinal Gene Therapy Drugs for Achromatopsia

Mark E Pennesi; Paul Yang; Andreas Lauer; Robert A Sisk; Jason M Comander; Rachel M. Huckfeldt; Edward Averbuhk; Eyal Banin; Ninel Gregori; Janet L Davis; Byron L Lam; Christine Kay; Erin Leone; Deanine Halliman; Nnenna Ihekoromadu; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3321.

ARVO Annual Meeting Abstract June 2021

Visual function improvements with BIIB112 (NSR-RPGR) in X-linked retinitis pigmentosa: XIRIUS (dose-expansion) and XOLARIS (natural disease progression) studies

Robert E MacLaren; Byron L Lam; Andrew J Lotery; Paulo Eduardo Stanga; Assad Jalil; Mark E Pennesi; David G Birch; Christine Kay; Jiajun Liu; Eileen Liao; Lenore von Krusenstiern

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1479.

Articles May 2021

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

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Katie M. Litts; Erica N. Woertz; Niamh Wynne; Brian P. Brooks; Alicia Chacon; Thomas B. Connor, Jr.; Deborah Costakos; Alina Dumitrescu; Arlene V. Drack; Gerald A. Fishman; William W. Hauswirth; Christine N. Kay; Byron L. Lam; Michel Michaelides; Mark E. Pennesi; Kimberly E. Stepien; Sasha Strul; C. Gail Summers; Joseph Carroll
TAGS: achromatopsia, albinism, retinal cone, diagnostic imaging, mosaicism
Trans. Vis. Sci. Tech.. 2021; 10(6):22. https://doi.org/10.1167/tvst.10.6.22

Includes: Supplemental Content

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Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

Retinal Imaging Analysis and Proteomic Profiling Reveals Sexual Dimorphism in the Retina of C57BL6/J Mice

Longitudinal imaging of the parafoveal cone mosaic in congenital achromatopsia

Photoreceptor structure following gene therapy in CNGA3 -mediated Achromatopsia: adaptive optics imaging results from a Phase 1/2 dose escalation clinical trial for AGTC-402 (rAAV2tYF-PR1.7-hCNGA3)

Gildeuretinol Enables the Vitamin A Cycle

Gildeuretinol Arrested Stargardt Disease, The TEASE-3 Study

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

Hepatic HIF Stabilization by Novel Carbonyl Glycine Derivatives Protects Against Oxygen-Induced Retinopathy

HIF Stabilization Induces Reductive Carboxylation

Interim results for the Phase 1/2 PRISM Trial evaluating 4D-150, a dual-transgene intravitreal genetic medicine in individuals with neovascular (wet) age-related macular degeneration

Six-month safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D (LCA1)

Visual attenuation of reactions to misophonic trigger sounds

Psychometric validation of patient-reported outcome (PRO) and observer-reported outcome (ObsRO) measures in Retinitis Pigmentosa and Leber Congenital Amaurosis

Findings on visual photosensitivity in two phase 1/2 clinical trials of subretinal gene therapy with AGTC-401 and AGTC-402 for CNGB3 and CNGA3 achromatopsia

Generation of qualitative evidence to support the content validity of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis

Interim Safety Results in Two Phase 1/2 Open-label, Dose-escalation Clinical Trials of Subretinal Gene Therapy with AGTC-401 (rAAV2tYF-PR1.7-hCNGB3) and AGTC-402 (rAAV2tYF-PR1.7-hCNGA3) in Subjects with Achromatopsia (ACHM)

Qualitative interviews with patients and caregivers regarding visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life in RPE65-related Retinitis Pigmentosa and Leber Congenital Amaurosis

Twelve-month Findings from Two Phase 1/2 Clinical Studies of Subretinal Gene Therapy Drugs for Achromatopsia

Visual function improvements with BIIB112 (NSR-RPGR) in X-linked retinitis pigmentosa: XIRIUS (dose-expansion) and XOLARIS (natural disease progression) studies

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

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