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Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
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 toExpand
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
BACKGROUND Phase 1 studies have shown potential benefit of gene replacement in RPE65-mediated inherited retinal dystrophy. This phase 3 study assessed the efficacy and safety of voretigene neparvovecExpand
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration
Malattia Leventinese (ML), an inherited macular degenerative disease, is closely reminiscent of age-related macular degeneration (AMD), the most common cause of incurable blindness. Both ML and AMDExpand
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial
BACKGROUND Safety and efficacy have been shown in a phase 1 dose-escalation study involving a unilateral subretinal injection of a recombinant adeno-associated virus (AAV) vector containing the RPE65Expand
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer.
We evaluated the safety and efficacy of an optimized adeno-associated virus (AAV; AAV2.RPE65) in animal models of the RPE65 form of Leber congenital amaurosis (LCA). Protein expression was optimizedExpand
AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models
Choroideremia (CHM) is an X- linked retinal degeneration that is symptomatic in the 1st or 2nd decade of life causing nyctalopia and loss of peripheral vision. The disease progresses throughExpand
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
Leber congenital amaurosis (LCA) is a severe disorder resulting in visual impairment usually starting in the first year of life. The most frequent genetic cause of LCA is an intronic mutation inExpand
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.
Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies, characterized by vision loss, nystagmus, and severe retinal dysfunction. To date, 15 causative genes haveExpand
Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.
PURPOSE To describe in detail the central retinal structure of a large group of patients with choroideremia (CHM). DESIGN A prospective, cross-sectional, descriptive study. PARTICIPANTS PatientsExpand
AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness
Repeat administration of gene therapy to the contralateral retina of three congenitally blind patients was safe and resulted in improved vision. Shining a Light with Gene Therapy Gene therapy hasExpand
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