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771 results on '"Cideciyan, Artur V"'

3. The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

Author

Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Mora, Jaume Català, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., and Kohl, Susanne

Published
2022

4. Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

Author

Thompson, Debra A, Iannaccone, Alessandro, Ali, Robin R, Arshavsky, Vadim Y, Audo, Isabelle, Bainbridge, James WB, Besirli, Cagri G, Birch, David G, Branham, Kari E, Cideciyan, Artur V, Daiger, Steven P, Dalkara, Deniz, Duncan, Jacque L, Fahim, Abigail T, Flannery, John G, Gattegna, Roberto, Heckenlively, John R, Heon, Elise, Jayasundera, K Thiran, Khan, Naheed W, Klassen, Henry, Leroy, Bart P, Molday, Robert S, Musch, David C, Pennesi, Mark E, Petersen-Jones, Simon M, Pierce, Eric A, Rao, Rajesh C, Reh, Thomas A, Sahel, Jose A, Sharon, Dror, Sieving, Paul A, Strettoi, Enrica, Yang, Paul, and Zacks, David N

Subjects
Eye Disease and Disorders of Vision, Clinical Research, Neurosciences, Orphan Drug, Rare Diseases, Clinical Trials and Supportive Activities, Networking and Information Technology R&D (NITRD), 8.4 Research design and methodologies (health services), Health and social care services research, Generic health relevance, Good Health and Well Being, Humans, Precision Medicine, Retina, Retinal Diseases, inherited retinal diseases, clinical trials, natural history studies, outcome measures, counseling patients, Monaciano Consortium, Biomedical Engineering, Opthalmology and Optometry
Abstract

Major advances in the study of inherited retinal diseases (IRDs) have placed efforts to develop treatments for these blinding conditions at the forefront of the emerging field of precision medicine. As a result, the growth of clinical trials for IRDs has increased rapidly over the past decade and is expected to further accelerate as more therapeutic possibilities emerge and qualified participants are identified. Although guided by established principles, these specialized trials, requiring analysis of novel outcome measures and endpoints in small patient populations, present multiple challenges relative to study design and ethical considerations. This position paper reviews recent accomplishments and existing challenges in clinical trials for IRDs and presents a set of recommendations aimed at rapidly advancing future progress. The goal is to stimulate discussions among researchers, funding agencies, industry, and policy makers that will further the design, conduct, and analysis of clinical trials needed to accelerate the approval of effective treatments for IRDs, while promoting advocacy and ensuring patient safety.

Published
2020

7. Night vision restored in days after decades of congenital blindness

Author

Jacobson, Samuel G., Cideciyan, Artur V., Ho, Allen C., Roman, Alejandro J., Wu, Vivian, Garafalo, Alexandra V., Sumaroka, Alexander, Krishnan, Arun K., Swider, Malgorzata, Mascio, Abraham A., Kay, Christine N., Yoon, Dan, Fujita, Kenji P., Boye, Sanford L., Peshenko, Igor V., Dizhoor, Alexander M., and Boye, Shannon E.

Published
2022
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8. Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial

Author

Russell, Stephen R., Drack, Arlene V., Cideciyan, Artur V., Jacobson, Samuel G., Leroy, Bart P., Van Cauwenbergh, Caroline, Ho, Allen C., Dumitrescu, Alina V., Han, Ian C., Martin, Mitchell, Pfeifer, Wanda L., Sohn, Elliott H., Walshire, Jean, Garafalo, Alexandra V., Krishnan, Arun K., Powers, Christian A., Sumaroka, Alexander, Roman, Alejandro J., Vanhonsebrouck, Eva, Jones, Eltanara, Nerinckx, Fanny, De Zaeytijd, Julie, Collin, Rob W. J., Hoyng, Carel, Adamson, Peter, Cheetham, Michael E., Schwartz, Michael R., den Hollander, Wilhelmina, Asmus, Friedrich, Platenburg, Gerard, Rodman, David, and Girach, Aniz

Published
2022
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10. Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2

Author

Kong, Xiangrong, Ibrahim-Ahmed, Mohamed, Bittencourt, Millena G., Strauss, Rupert W., Birch, David G., Cideciyan, Artur V., Ervin, Ann-Margaret, Ho, Alexander, Sunness, Janet S., Audo, Isabelle S., Michaelides, Michel, Zrenner, Eberhart, Sadda, SriniVas, Ip, Michael S., West, Sheila, and Scholl, Hendrik P.N.

Published
2022
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12. Translational Retinal Research and Therapies.

Author

Hardcastle, Alison J, Sieving, Paul A, Sahel, José-Alain, Jacobson, Samuel G, Cideciyan, Artur V, Flannery, John G, Beltran, William A, and Aguirre, Gustavo D

Subjects
Leber congenital amaurosis, X-linked Retinoschisis, animal models, retinitis pigmentosa, Biomedical Engineering, Opthalmology and Optometry
Abstract

The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr. Gustavo Aguirre, recipient of ARVO's 2017 Proctor Medal. Focusing on the retina, speakers highlighted current work on moving therapies for inherited retinal degenerative diseases from the laboratory bench to the clinic.

Published
2018

19. Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report

Author

Cideciyan, Artur V., Jacobson, Samuel G., Ho, Allen C., Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Krishnan, Arun K., Swider, Malgorzata, Schwartz, Michael R., and Girach, Aniz

Subjects
Gene therapy -- Case studies, Ophthalmic drugs -- Case studies -- Usage, Leber's congenital amaurosis -- Case studies -- Drug therapy, Biological sciences, Health
Abstract

Leber congenital amaurosis due to CEP290 ciliopathy is being explored by treatment with the antisense oligonucleotide (AON) sepofarsen. One patient who was part of a larger cohort (ClinicalTrials.gov NCT03140969) was studied for 15 months after a single intravitreal sepofarsen injection. Concordant measures of visual function and retinal structure reached a substantial efficacy peak near 3 months after injection. At 15 months, there was sustained efficacy, even though there was evidence of reduction from peak response. Efficacy kinetics can be explained by the balance of AON-driven new CEP290 protein synthesis and a slow natural rate of CEP290 protein degradation in human foveal cone photoreceptors. Post hoc analyses and follow-up of a patient with Leber congenital amaurosis treated with the antisense oligonucleotide sepofarsen as part of a clinical trial indicates sustained improvement of vision 15 months after receiving a single dose of the drug., Author(s): Artur V. Cideciyan [sup.1] , Samuel G. Jacobson [sup.1] , Allen C. Ho [sup.2] , Alexandra V. Garafalo [sup.1] , Alejandro J. Roman [sup.1] , Alexander Sumaroka [sup.1] , [...]

Published
2021
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20. Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.

Author

Cideciyan, Artur V., Roman, Alejandro J., Warner, Raymond L., Sumaroka, Alexander, Wu, Vivian, Jiang, Yu Y., Swider, Malgorzata, Garafalo, Alexandra V., Viarbitskaya, Iryna, Russell, Robert C., Kohl, Susanne, Wissinger, Bernd, Ripamonti, Caterina, Barbur, John L., Bach, Michael, Carroll, Joseph, Morgan, Jessica I. W., and Aleman, Tomas S.

Subjects
*VISION, *COLOR vision, *OPTICAL coherence tomography, *VISUAL acuity, *ADAPTIVE optics, *PERIMETRY
Abstract

L-cone opsin expression by gene therapy is a promising treatment for blue cone monochromacy (BCM) caused by congenital lack of long- and middle-wavelength-sensitive (L/M) cone function. Eight patients with BCM and confirmed pathogenic variants at the OPN1LW/OPN1MW gene cluster participated. Optical coherence tomography (OCT), chromatic perimetry, chromatic microperimetry, chromatic visual acuity (VA), and chromaticity thresholds were performed with unmodified commercial equipment and/or methods available in the public domain. Adaptive optics scanning laser ophthalmoscope (AOSLO) imaging was performed in a subset of patients. Outer retinal changes were detectable by OCT with an age-related effect on the foveal disease stage. Rod and short-wavelength-sensitive (S) cone functions were relatively retained by perimetry, although likely impacted by age-related increases in the pre-retinal absorption of short-wavelength lights. The central macula showed a large loss of red sensitivity on dark-adapted microperimetry. Chromatic VAs with high-contrast red gratings on a blue background were not detectable. Color vision was severely deficient. AOSLO imaging showed reduced total cone density with majority of the population being non-waveguiding. This study developed and evaluated specialized outcomes that will be needed for the determination of efficacy and safety in human clinical trials. Dark-adapted microperimetry with a red stimulus sampling the central macula would be a key endpoint to evaluate the light sensitivity improvements. VA changes specific to L-opsin can be measured with red gratings on a bright blue background and should also be considered as outcome measures in future interventional trials. [ABSTRACT FROM AUTHOR]

Published
2024
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21. Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy.

Author

Rao, Nitya T., Sumaroka, Alexander, Santos, Arlene J., Parchinski, Kelsey M., Weber, Mariejel L., Maguire, Albert M., Cideciyan, Artur V., and Aleman, Tomas S.

Subjects
RETINAL degeneration, RETINAL diseases, VISION, OPTICAL coherence tomography, RHODOPSIN, DYSTROPHY
Abstract

Purpose: To gain an insight into the pathophysiology of RAB28-associated inherited retinal degeneration through detailed phenotyping and long-term longitudinal follow-up. Methods: The patient underwent complete ophthalmic examinations. Visual function was assessed with microperimetry, full-field electroretinography (ffERG), imaging with optical coherence tomography (OCT), short-wave (SW), and near-infrared (NIR) fundus autofluorescence (FAF). Results: A healthy Haitian woman with homozygous pathogenic variants (c.68C > T; p.Ser23Phe) in RAB28 presented at 16 years of age with a four-year history of blurred vision. Visual acuities were 20/125 in each eye, which remained relatively stable since. At age 27, cone ffERGs were non-detectable and borderline for rod-mediated responses. Kinetic fields were full to a V-4e target, undetectable to a small I-4e stimulus. Microperimetry showed an absolute central scotoma surrounded by a pericentral relative scotoma. SD-OCT showed an undetectable or barely detectable foveal and parafoveal photoreceptor outer nuclear layer (ONL), photoreceptor outer segment (POS), and retinal pigment epithelium (RPE) signals and loss of the SW- and NIR-FAF signals. This atrophic region was separated from a normally laminated retina by a narrow transition zone (TZ) of hyper SW- and NIR-FAF that co-localized with preserved ONL but abnormally thinned POS and RPE. There was minimal centrifugal (<100 $\mu $ μ m) expansion over a six-year period. Conclusion: The cone-rod dystrophy phenotype documented herein supports a critical role of RAB28 for cone function and POS maintenance. Severe central photoreceptor and RPE loss with a predilection for POS loss in TZs suggests possible disruptions of complex mechanisms that maintain central cone photoreceptor and RPE homeostasis. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14

Author

Scholl, Hendrik P.N., Strauss, Rupert W., Wolfson, Yulia, Bittencourt, Millena, Shah, Syed Mahmood, Ahmed, Mohamed, Schönbach, Etienne, Fujinami, Kaoru, Traboulsi, Elias, Ehlers, Justis, Marino, Meghan, Crowe, Susan, Briggs, Rachael, Borer, Angela, Pinter, Anne, Fecko, Tami, Burgnoni, Nikki, Sunness, Janet S., Applegate, Carol, Russell, Leslie, Michaelides, Michel, Degli Esposti, Simona, Moore, Anthony, Webster, Andrew, Connor, Sophie, Barnfield, Jade, Salchi, Zaid, Alfageme, Clara, McCudden, Victoria, Pefkianaki, Maria, Aboshiha, Jonathan, Liew, Gerald, Holder, Graham, Robson, Anthony, King, Alexa, Cajas Narvaez, Daniela Ivanova, Barnard, Katy, Grigg, Catherine, Dunbar, Hannah, Obadeyi, Yetunde, Girard-Claudon, Karine, Swann, Hilary, Rughani, Avani, Amoah, Charles, Carrington, Dominic, Bibi, Kanom, Ting, Emerson, Illiyas, Mohamed Nafaz, Begum, Hamida, Carter, Andrew, Georgiou, Anne, Lewism, Selma, Shaheen, Saddaf, Shinmar, Harpreet, Burton, Linda, Bernstein, Paul, Wegner, Kimberley, Sawyer, Briana Lauren, Carlstrom, Bonnie, Farnsworth, Kellian, Fry, Cyrie, Chandler, Melissa, Jenkins, Glen, Creel, Donnel, Birch, David, Wang, Yi-Zhong, Rodriguez, Luis, Locke, Kirsten, Klein, Martin, Mejia, Paulina, Cideciyan, Artur V., Jacobson, Samuel G., Schwartz, Sharon B., Matsui, Rodrigo, Gruzensky, Michaela, Charng, Jason, Roman, Alejandro J., Zrenner, Eberhart, Nasser, Fadi, Hahn, Gesa Astrid, Wilhelm, Barbara, Peters, Tobias, Beier, Benjamin, Koenig, Tilman, Kramer, Susanne, Sahel, José-Alain, Mohand-Said, Saddek, Audo, Isabelle, Laurent-Coriat, Caroline, Sliesoraityte, Ieva, Zeitz, Christina, Boyard, Fiona, Tran, Minh Ha, Chapon, Mathias, Chaumette, Céline, Amaudruz, Juliette, Ganem, Victoria, Sancho, Serge, Girmens, Aurore, Wojciechowski, Robert, Khan, Shazia, Emmert, David G., Cain, Dennis, Herring, Mark, Bassinger, Jennifer, Liberto, Lisa, West, Sheila, Ervin, Ann-Margret, Munoz, Beatriz, Kong, Xiangrong, Dreger, Kurt, Jones, Jennifer, Sadda, Srinivas, Ip, Michael S., Jha, Anamika, Ho, Alex, Kramer, Brendan, Lam, Ngoc, Tawdros, Rita, Zhou, Yong Dong, Carmona, Johana, Uji, Akihito, Hariri, Amirhossein, Lock, Amy, Elshafei, Anthony, Ganegoda, Anushika, Petrossian, Christine, Jenkins, Dennis, Strnad, Edward, Baghdasaryan, Elmira, Ito, Eric, Samson, Feliz, Blanquel, Gloria, Akil, Handan, Melendez, Jhanisus, Lei, Jianqin, Huang, Jianyan, Chau, Jonathan, Falavarjani, Khalil G., Espino, Kristina, Li, Manfred, Mendoza, Maria, Nittala, Muneeswar Gupta, Roded, Netali, Saleh, Nizar, Huang, Ping, Pitetta, Sean, Balasubramanian, Siva, Leahy, Sophie, Srinivas, Sowmya J., Velaga, Swetha B., Margaryan, Teresa, Tepelus, Tudor, Brown, Tyler, Fan, Wenying, Murillo, Yamileth, Shi, Yue, Aguilar, Katherine, Chan, Cynthia, Santos, Lisa, Seo, Brian, Sison, Christopher, Perez, Silvia, Chao, Stephanie, Miyasato, Kelly, Higgins, Julia, Luna, Zoila, Menchaca, Anita, Gonzalez, Norma, Robledo, Vicky, Carig, Karen, Baker, Kirstie, Ellenbogen, David, Bluemel, Daniel, Sanford, Theo, Linares, Daisy, Tran, Mei, Nava, Lorane, Oberoi, Michelle, Romero, Mark, Chiguil, Vivian, Bynum-Bain, Grantley, Kim, Monica, Mendiguren, Carolina, Huang, Xiwen, Smith, Monika, Sarreal, Natalie, Schönbach, Etienne M., Ibrahim, Mohamed A., Janes, Jessica L., Birch, David G., Muñoz, Beatriz, and Sadda, SriniVas R.

Published
2020
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26. Five-Year Safety and Performance Results from the Argus II Retinal Prosthesis System Clinical Trial

Author

da Cruz, Lyndon, Dorn, Jessy D, Humayun, Mark S, Dagnelie, Gislin, Handa, James, Barale, Pierre-Olivier, Sahel, José-Alain, Stanga, Paulo E, Hafezi, Farhad, Safran, Avinoam B, Salzmann, Joel, Santos, Arturo, Birch, David, Spencer, Rand, Cideciyan, Artur V, de Juan, Eugene, Duncan, Jacque L, Eliott, Dean, Fawzi, Amani, de Koo, Lisa C Olmos, Ho, Allen C, Brown, Gary, Haller, Julia, Regillo, Carl, Del Priore, Lucian V, Arditi, Aries, Greenberg, Robert J, and Group, Argus II Study

Subjects
Rehabilitation, Neurosciences, Patient Safety, Eye Disease and Disorders of Vision, Assistive Technology, Bioengineering, Clinical Research, Clinical Trials and Supportive Activities, Neurodegenerative, Eye, Adult, Aged, Blindness, Female, Follow-Up Studies, Humans, Male, Middle Aged, Prospective Studies, Prosthesis Design, Retina, Retinitis Pigmentosa, Time Factors, Treatment Outcome, Visual Acuity, Visual Prosthesis, Visually Impaired Persons, Argus II Study Group, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry
Abstract

PurposeThe Argus II Retinal Prosthesis System (Second Sight Medical Products, Inc, Sylmar, CA) was developed to restore some vision to patients blind as a result of retinitis pigmentosa (RP) or outer retinal degeneration. A clinical trial was initiated in 2006 to study the long-term safety and efficacy of the Argus II System in patients with bare or no light perception resulting from end-stage RP.DesignProspective, multicenter, single-arm clinical trial. Within-patient controls included the nonimplanted fellow eye and patients' native residual vision compared with their vision with the Argus II.ParticipantsThirty participants in 10 centers in the United States and Europe.MethodsThe worse-seeing eye of blind patients was implanted with the Argus II. Patients wore glasses mounted with a small camera and a video processor that converted images into stimulation patterns sent to the electrode array on the retina.Main outcome measuresThe primary outcome measures were safety (the number, seriousness, and relatedness of adverse events) and visual function, as measured by 3 computer-based, objective tests. Secondary measures included functional vision performance on objectively scored real-world tasks.ResultsTwenty-four of 30 patients remained implanted with functioning Argus II Systems at 5 years after implantation. Only 1 additional serious adverse event was experienced after the 3-year time point. Patients performed significantly better with the Argus II on than off on all visual function tests and functional vision tasks.ConclusionsThe 5-year results of the Argus II trial support the long-term safety profile and benefit of the Argus II System for patients blind as a result of RP. The Argus II is the first and only retinal implant to have market approval in the European Economic Area, the United States, and Canada.

Published
2016

30. 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

Author

Yang, Paul, Pardon, Laura P, Ho, Allen C, Lauer, Andreas K, Yoon, Dan, Boye, Shannon E, Boye, Sanford L, Roman, Alejandro J, Wu, Vivian, Garafalo, Alexandra V, Sumaroka, Alexander, Swider, Malgorzata, Viarbitskaya, Iryna, Aleman, Tomas S, Pennesi, Mark E, Kay, Christine N, Fujita, Kenji P, and Cideciyan, Artur V

Abstract

Leber congenital amaurosis 1 (LCA1), caused by mutations in GUCY2D, is a rare inherited retinal disease that typically causes blindness in early childhood. The aim of this study was to evaluate the safety and preliminary efficacy of ascending doses of ATSN-101, a subretinal AAV5 gene therapy for LCA1.

Published
2024
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32. Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

Author

Li, Randa T. H., primary, Roman, Alejandro J., additional, Sumaroka, Alexander, additional, Stanton, Chloe M., additional, Swider, Malgorzata, additional, Garafalo, Alexandra V., additional, Heon, Elise, additional, Vincent, Ajoy, additional, Wright, Alan F., additional, Megaw, Roly, additional, Aleman, Tomas S., additional, Browning, Andrew C., additional, Dhillon, Baljean, additional, and Cideciyan, Artur V., additional

Published
2023
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33. Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes

Author

Cideciyan, Artur V., primary, Jacobson, Samuel G., additional, Ho, Allen C., additional, Swider, Malgorzata, additional, Sumaroka, Alexander, additional, Roman, Alejandro J., additional, Wu, Vivian, additional, Russell, Robert C., additional, Viarbitskaya, Iryna, additional, Garafalo, Alexandra V., additional, Schwartz, Michael R., additional, and Girach, Aniz, additional

Published
2023
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37. Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12

Author

Scholl, Hendrik P.N., Strauss, Rupert W., Wolfson, Yulia, Bittencourt, Millena, Shah, Syed Mahmood, Ahmed, Mohamed, Schönbach, Etienne, Fujinami, Kaoru, Traboulsi, Elias, Ehlers, Justis, Marino, Meghan, Crowe, Susan, Briggs, Rachael, Borer, Angela, Pinter, Anne, Fecko, Tami, Burgnoni, Nikki, Sunness, Janet S., Applegate, Carol, Russell, Leslie, Michaelides, Michel, Esposti, Simona Degli, Moore, Anthony, Webster, Andrew, Connor, Sophie, Barnfield, Jade, Salchi, Zaid, Alfageme, Clara, McCudden, Victoria, Pefkianaki, Maria, Aboshiha, Jonathan, Liew, Gerald, Holder, Graham, Robson, Anthony, King, Alexa, Narvaez, Daniela Ivanova Cajas, Barnard, Katy, Grigg, Catherine, Dunbar, Hannah, Obadeyi, Yetunde, Girard-Claudon, Karine, Swann, Hilary, Rughani, Avani, Amoah, Charles, Carrington, Dominic, Bibi, Kanom, Co, Emerson Ting, Illiyas, Mohamed Nafaz, Begum, Hamida, Carter, Andrew, Georgiou, Anne, Lewism, Selma, Shaheen, Saddaf, Shinmar, Harpreet, Burton, Linda, Bernstein, Paul, Wegner, Kimberley, Sawyer, Briana Lauren, Carlstrom, Bonnie, Farnsworth, Kellian, Fry, Cyrie, Chandler, Melissa, Jenkins, Glen, Creel, Donnel, Birch, David, Wang, Yi-Zhong, Rodriguez, Luis, Locke, Kirsten, Klein, Martin, Mejia, Paulina, Cideciyan, Artur V., Jacobson, Samuel G., Schwartz, Sharon B., Matsui, Rodrigo, Gruzensky, Michaela, Charng, Jason, Roman, Alejandro J., Zrenner, Eberhart, Nasser, Fadi, Hahn, Gesa Astrid, Wilhelm, Barbara, Peters, Tobias, Beier, Benjamin, Koenig, Tilman, Kramer, Susanne, Sahel, José-Alain, Mohand-Said, Saddek, Audo, Isabelle, Laurent-Coriat, Caroline, Sliesoraityte, Ieva, Zeitz, Christina, Boyard, Fiona, Tran, Minh Ha, Chapon, Mathias, Chaumette, Céline, Amaudruz, Juliette, Ganem, Victoria, Sancho, Serge, Girmens, Aurore, Wojciechowski, Robert, Khan, Shazia, Emmert, David G., Cain, Dennis, Herring, Mark, Bassinger, Jennifer, Liberto, Lisa, West, Sheila, Ervin, Ann-Margret, Munoz, Beatriz, Kong, Xiangrong, Dreger, Kurt, Jones, Jennifer, Sadda, Srinivas, Ip, Michael S., Jha, Anamika, Ho, Alex, Kramer, Brendan, Lam, Ngoc, Tawdros, Rita, Zhou, Yong Dong, Carmona, Johana, Uji, Akihito, Hariri, Amirhossein, Lock, Amy, Elshafei, Anthony, Ganegoda, Anushika, Petrossian, Christine, Jenkins, Dennis, Strnad, Edward, Baghdasaryan, Elmira, Ito, Eric, Samson, Feliz, Blanquel, Gloria, Akil, Handan, Melendez, Jhanisus, Lei, Jianqin, Huang, Jianyan, Chau, Jonathan, Falavarjani, Khalil G., Espino, Kristina, Li, Manfred, Mendoza, Maria, Nittala, Muneeswar Gupta, Roded, Netali, Saleh, Nizar, Huang, Ping, Pitetta, Sean, Balasubramanian, Siva, Leahy, Sophie, Srinivas, Sowmya J., Velaga, Swetha B., Margaryan, Teresa, Tepelus, Tudor, Brown, Tyler, Fan, Wenying, Murillo, Yamileth, Shi, Yue, Aguilar, Katherine, Chan, Cynthia, Santos, Lisa, Seo, Brian, Sison, Christopher, Perez, Silvia, Chao, Stephanie, Miyasato, Kelly, Higgins, Julia, Luna, Zoila, Menchaca, Anita, Gonzalez, Norma, Robledo, Vicky, Carig, Karen, Baker, Kirstie, Ellenbogen, David, Bluemel, Daniel, Sanford, Theo, Linares, Daisy, Tran, Mei, Nava, Lorane, Oberoi, Michelle, Romero, Mark, Chiguil, Vivian, Bynum-Bain, Grantley, Kim, Monica, Mendiguren, Carolina, Huang, Xiwen, Smith, Monika, Sarreal, Natalie, Schönbach, Etienne M., Muñoz, Beatriz, Ibrahim, Mohamed A., Birch, David G., Hahn, Gesa-Astrid, Sadda, SriniVas R., and West, Sheila K.

Published
2018
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40. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Author

Cideciyan, Artur V., Jacobson, Samuel G., Drack, Arlene V., Ho, Allen C., Charng, Jason, Garafalo, Alexandra V., and Roman, Alejandro J.

Subjects
Antisense drugs -- Dosage and administration, Child health -- Analysis, Blindness -- Genetic aspects -- Drug therapy, Photoreceptors -- Research, Genes, Medical schools, Genetic disorders, Clinical trials, RNA, Biological sciences, Health
Abstract

Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber congenital amaurosis carrying the c.2991+1655A>G allele in the ciliopathy gene centrosomal protein 290 (CEP290) were treated (ClinicalTrials.gov no. (https://clinicaltrials.gov/ct2/show/NCT03140969)) with intravitreal injections of an antisense oligonucleotide to restore correct splicing. There were no serious adverse events, and vision improved at 3 months. The visual acuity of one exceptional responder improved from light perception to 20/400. RNA antisense oligonucleotide therapy to restore normal splicing of a ciliopathy gene shows promising safety and efficacy results in a clinical trial to treat a form of childhood blindness., Author(s): Artur V. Cideciyan [sup.1] , Samuel G. Jacobson [sup.1] , Arlene V. Drack [sup.2] , Allen C. Ho [sup.3] , Jason Charng [sup.1] , Alexandra V. Garafalo [sup.1] , [...]

Published
2019
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41. Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy

Author

Cideciyan, Artur V, Hufnagel, Robert B, Carroll, Joseph, Sumaroka, Alexander, Luo, Xunda, Schwartz, Sharon B, Dubra, Alfredo, Land, Megan, Michaelides, Michel, Gardner, Jessica C, Hardcastle, Alison J, Moore, Anthony T, Sisk, Robert A, Ahmed, Zubair M, Kohl, Susanne, Wissinger, Bernd, and Jacobson, Samuel G

Subjects
Rare Diseases, Neurosciences, Orphan Drug, Eye Disease and Disorders of Vision, Gene Therapy, Genetics, Eye, Adolescent, Adult, Animals, Child, Child, Preschool, Color Vision Defects, Female, Gene Deletion, Genetic Therapy, Humans, Mice, Middle Aged, Mutation, Retinal Cone Photoreceptor Cells, Rod Opsins
Abstract

Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassing portions of the gene array and upstream regulatory sequences that would predict a lack of red or green opsin expression. The fate of opsin-deficient cone cells is unknown. We know that rod opsin null mutant mice show rapid postnatal death of rod photoreceptors. Using in vivo histology with high-resolution retinal imaging, we studied a cohort of 20 BCM patients (age range 5-58) with large deletions in the red/green opsin gene array. Already in the first years of life, retinal structure was not normal: there was partial loss of photoreceptors across the central retina. Remaining cone cells had detectable outer segments that were abnormally shortened. Adaptive optics imaging confirmed the existence of inner segments at a spatial density greater than that expected for the residual blue cones. The evidence indicates that human cones in patients with deletions in the red/green opsin gene array can survive in reduced numbers with limited outer segment material, suggesting potential value of gene therapy for BCM.

Published
2013

46. Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Author

Beltran, William A., Cideciyan, Artur V., Boye, Shannon E., Ye, Guo-Jie, Iwabe, Simone, Dufour, Valerie L., Marinho, Luis Felipe, Swider, Malgorzata, Kosyk, Mychajlo S., Sha, Jin, Boye, Sanford L., Peterson, James J., Witherspoon, C. Douglas, Alexander, John J., Ying, Gui-Shuang, Shearman, Mark S., Chulay, Jeffrey D., Hauswirth, William W., Gamlin, Paul D., Jacobson, Samuel G., and Aguirre, Gustavo D.

Published
2017
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