Article
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.
Molecular therapy : the journal of the American Society of Gene Therapy - 5 Sept 2018
Cukras Catherine, Wiley Henry E, Jeffrey Brett G, Sen H Nida, Turriff Amy, Zeng Yong, Vijayasarathy Camasamudram, Marangoni Dario, Ziccardi Lucia, Kjellstrom Sten, Park Tae Kwon, Hiriyanna Suja, Wright J Fraser, Colosi Peter, Wu Zhijian, Bush Ronald A, Wei Lisa L, Sieving Paul A
Abstract excerpt
This study evaluated the safety and tolerability of ocular RS1 adeno-associated virus (AAV8-RS1) gene augmentation therapy to the retina of participants with X-linked retinoschisis (XLRS). XLRS is a monogenic trait affecting only males, caused by mutations in the RS1 gene. Retinoschisin protein is secreted principally in the outer retina, and its absence results in retinal cavities, synaptic dysfunction, reduced...
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