Advances in gene therapy technologies to treat retinitis pigmentosa.
Hilda Petrs-Silva,Rafael Linden +1 more
TL;DR: This review is focused on the development of gene therapy for RP using recombinant adenoassociated viral vectors, which show a positive safety record and have so far been successful in several clinical trials for congenital retinal disease.
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Abstract: Retinitis pigmentosa (RP) is a class of diseases that leads to progressive degeneration of the retina. Experimental approaches to gene therapy for the treatment of inherited retinal dystrophies have advanced in recent years, inclusive of the safe delivery of genes to the human retina. This review is focused on the development of gene therapy for RP using recombinant adenoassociated viral vectors, which show a positive safety record and have so far been successful in several clinical trials for congenital retinal disease. Gene therapy for RP is under development in a variety of animal models, and the results raise expectations of future clinical application. Nonetheless, the translation of such strategies to the bedside requires further understanding of the mutations and mechanisms that cause visual defects, as well as thorough examination of potential adverse effects.
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Citations
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives
Marina França Dias,Kwangsic Joo,Jessica A. Kemp,Sílvia Ligório Fialho,Armando da Silva Cunha,Se Joon Woo,Se Joon Woo,Young Jik Kwon +7 more
TL;DR: Development in gene editing technology and novel gene delivery carriers make gene therapy a promising therapeutic modality for RP and other hereditary retinal dystrophies in the future.
355
Five-Year Safety and Performance Results from the Argus II Retinal Prosthesis System Clinical Trial
Lyndon da Cruz,Jessy D. Dorn,Mark S. Humayun,Gislin Dagnelie,James T. Handa,Pierre Olivier Barale,José-Alain Sahel,Paulo E. Stanga,Farhad Hafezi,Farhad Hafezi,Avinoam B. Safran,Joel Salzmann,Arturo Santos,David G. Birch,Rand Spencer,Artur V. Cideciyan,Eugene de Juan,Jacque L. Duncan,Dean Eliott,Dean Eliott,Amani A. Fawzi,Amani A. Fawzi,Lisa C. Olmos de Koo,Allen C. Ho,Gary C. Brown,Julia A. Haller,Julia A. Haller,Carl D. Regillo,Lucian V. Del Priore,Aries Arditi,Robert J. Greenberg +30 more
TL;DR: The 5-year results of theArgus II trial support the long-term safety profile and benefit of the Argus II System for patients blind as a result of RP.
332
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa
Benjamin Bakondi,Wenjian Lv,Wenjian Lv,Bin Lu,Melissa Kaye Jones,YuChun Tsai,Kevin J. Kim,Rachelle Levy,Aslam Abbasi Akhtar,Joshua J. Breunig,Clive N. Svendsen,Shaomei Wang +11 more
TL;DR: It is shown that CRISPR/Cas9 can be used in vivo to selectively ablate the rhodopsin gene carrying the dominant S334ter mutation in rats that model severe autosomal dominant retinitis pigmentosa.
295
Long-Term Results from an Epiretinal Prosthesis to Restore Sight to the Blind
Allen C. Ho,Mark S. Humayun,Jessy D. Dorn,Lyndon da Cruz,Gislin Dagnelie,James T. Handa,Pierre Olivier Barale,José-Alain Sahel,Paulo E. Stanga,Paulo E. Stanga,Farhad Hafezi,Farhad Hafezi,Avinoam B. Safran,Joel Salzmann,Arturo Santos,David G. Birch,Rand Spencer,Artur V. Cideciyan,Eugene de Juan,Jacque L. Duncan,Dean Eliott,Dean Eliott,Amani A. Fawzi,Amani A. Fawzi,Lisa C. Olmos de Koo,Gary C. Brown,Julia A. Haller,Julia A. Haller,Carl D. Regillo,Lucian V. Del Priore,Lucian V. Del Priore,Aries Arditi,Duane R. Geruschat,Robert J. Greenberg +33 more
TL;DR: The 3-year results of the Argus II trial support the long-term safety profile and benefit of theArgus II System for patients blind from RP and the first and only retinal implant to have both approvals.
265
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial
Nicola G. Ghazi,Emad B. Abboud,Sawsan R. Nowilaty,Hisham Alkuraya,Abdulrahman Alhommadi,Huimin Cai,Rui Hou,Wen-Tao Deng,Sanford L. Boye,Abdulrahman Al-Maghamsi,Fahad Al Saikhan,Hassan Al-Dhibi,David G. Birch,Christopher Chung,Dilek Colak,Matthew M. LaVail,Douglas Vollrath,Kirsten E. Erger,Wenqiu Wang,Thomas J. Conlon,Kang Zhang,Kang Zhang,William W. Hauswirth,Fowzan S. Alkuraya +23 more
TL;DR: Gene therapy for MERTK-related RP using careful subretinal injection of rAAV2-VMD2-hMERTK is not associated with major side effects and may result in clinical improvement in a subset of patients, based on 2-year follow-up.
228
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