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AAV, gene therapy, ophthalmology,

Yi-Ting Tsai, Wen-Hsuan Wu, Ting-Ting Lee, Wei-Pu Wu, Christine L Xu, Karen S Park, Xuan Cui, Sally Justus, Chyuan-Sheng Lin, Ruben Jauregui, Pei-Yin Su, Stephen H Tsang
PURPOSE: To develop a universal gene therapy to overcome the genetic heterogeneity in retinitis pigmentosa (RP) resulting from mutations in rhodopsin (RHO). DESIGN: Experimental study for a combination gene therapy that uses both gene ablation and gene replacement. PARTICIPANTS: This study included 2 kinds of human RHO mutation knock-in mouse models: RhoP23H and RhoD190N . In total, 23 RhoP23H/P23H , 43 RhoP23H/+ , and 31 RhoD190N/+ mice were used for analysis...
May 5, 2018: Ophthalmology
Guylène Le Meur, Pierre Lebranchu, Fanny Billaud, Oumeya Adjali, Sébastien Schmitt, Stéphane Bézieau, Yann Péréon, Romain Valabregue, Catherine Ivan, Christophe Darmon, Philippe Moullier, Fabienne Rolling, Michel Weber
The aim of this study was the evaluation of the safety and efficacy of unilateral subretinal injection of the adeno-associated vector (AAV) serotypes 2 and 4 (AAV2/4) RPE65-RPE65 vector in patients with Leber congenital amaurosis (LCA) associated with RPE65 gene deficiency. We evaluated ocular and general tolerance and visual function up to 1 year after vector administration in the most severely affected eye in nine patients with retinal degeneration associated with mutations in the RPE65 gene. Patients received either low (1...
January 3, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
Deniz Dalkara, Jens Duebel, José-Alain Sahel
PURPOSE OF REVIEW: This review will discuss retinal gene therapy strategies with a focus on mutation-independent approaches to treat a large number of patients without knowledge of the mutant gene. These approaches rely on the secretion of neurotrophic factors to slow down retinal degeneration and the use of optogenetics to restore vision in late-stage disease. RECENT FINDINGS: Success in clinical application of adeno-associated virus (AAV)-mediated gene therapy for Leber's congenital amaurosis established the feasibility of retinal gene therapy...
February 2015: Current Opinion in Neurology
Fahad I Al-Saikhan
The advances in gene therapy hold significant promise for the treatment of ophthalmic conditions. Several studies using animal models have been published. Animal models on retinitis pigmentosa, Leber's Congenital Amaurosis (LCA), and Stargardt disease have involved the use of adeno-associated virus (AAV) to deliver functional genes into mice and canines. Mice models have been used to show that a mutation in cGMP phosphodiesterase that results in retinitis pigmentosa can be corrected using rAAV vectors. Additionally, rAAV vectors have been successfully used to deliver ribozyme into mice with a subsequent improvement in autosomal dominant retinitis pigmentosa...
April 2013: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
Albert M Maguire, Katherine A High, Alberto Auricchio, J Fraser Wright, Eric A Pierce, Francesco Testa, Federico Mingozzi, Jeannette L Bennicelli, Gui-shuang Ying, Settimio Rossi, Ann Fulton, Kathleen A Marshall, Sandro Banfi, Daniel C Chung, Jessica I W Morgan, Bernd Hauck, Olga Zelenaia, Xiaosong Zhu, Leslie Raffini, Frauke Coppieters, Elfride De Baere, Kenneth S Shindler, Nicholas J Volpe, Enrico M Surace, Carmela Acerra, Arkady Lyubarsky, T Michael Redmond, Edwin Stone, Junwei Sun, Jennifer Wellman McDonnell, Bart P Leroy, Francesca Simonelli, Jean Bennett
BACKGROUND: Gene therapy has the potential to reverse disease or prevent further deterioration of vision in patients with incurable inherited retinal degeneration. We therefore did a phase 1 trial to assess the effect of gene therapy on retinal and visual function in children and adults with Leber's congenital amaurosis. METHODS: We assessed the retinal and visual function in 12 patients (aged 8-44 years) with RPE65-associated Leber's congenital amaurosis given one subretinal injection of adeno-associated virus (AAV) containing a gene encoding a protein needed for the isomerohydrolase activity of the retinal pigment epithelium (AAV2-hRPE65v2) in the worst eye at low (1...
November 7, 2009: Lancet
Xue-mei Zhou, Hui-ping Yuan, Dong-lai Wu, Xin-rong Zhou, Da-wei Sun, Hong-yi Li, Zheng-bo Shao
BACKGROUND: Neural stem cells (NSCs) transplantation and gene therapy have been widely investigated for treating the cerebullar and myelonic injuries, however, studies on the ophthalmology are rare. The aim of this study was to investigate the migration and differentiation of brain-derived neurotrophic factor (BDNF) gene transgenic NSCs transplanted into the normal rat retinas. METHODS: NSCs were cultured and purified in vitro and infected with recombinant retrovirus pLXSN-BDNF and pLXSN respectively, to obtain the BDNF overexpressed NSCs (BDNF-NSCs) and control cells (p-NSCs)...
July 20, 2009: Chinese Medical Journal
Marcin Stopa
PURPOSE: Presentation of newest achievements from borderland of ophthalmology and molecular biology and their clinical employment areas in the therapy of eye diseases. MATERIAL AND METHODS: MEDLINE database has been searched for terms gene, gene therapy, ocular, eye in title and summary fields. RESULTS: Based on the latest literature eye disorders have been selected that are currently in focus of gene therapy. Experimental approaches in vitro as well as in vivo have been reviewed...
2002: Klinika Oczna
M B Reichel, T Hudde, R R Ali, P Wiedemann
BACKGROUND: Research into the molecular and genetic basis of disease is continually expanding. How does the increasing knowledge about the genetic basis of eye diseases contribute to the development of new therapeutic strategies? MATERIALS AND METHODS: Gene therapy, here defined as the introduction of genetic material into human cells, offers great opportunities. Gene transfer strategies can be used for gene replacement in recessive disease, gene inactivation in dominant disease, expression of "rescue factors" and apoptosis modulators in degenerative disease, "suicide genes" for example in proliferative diseases and expression of immunmodulatory factors in immunological disorders...
September 1999: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
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