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View article: Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for <i>RDH12</i>-Associated Inherited Retinal Degeneration
Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for <i>RDH12</i>-Associated Inherited Retinal Degeneration Open
A multi-stakeholder, patient centric approach will be critical to the design of future successful clinical trials with outcome measures relevant to the RDH12-IRD population.
View article: Retinal Disorders
Retinal Disorders Open
Retinal disorders caused by genetic or environmental factors cause severe visual impairment and often result in blindness. The past ten years have seen rapid progress in our understanding of the biological basis of these conditions, as wel…
View article: Central visual pathways affected by degenerative retinal disease before and after gene therapy
Central visual pathways affected by degenerative retinal disease before and after gene therapy Open
Genetic diseases affecting the retina can result in partial or complete loss of visual function. Leber’s congenital amaurosis (LCA) is a rare blinding disease, usually inherited in an autosomally recessive manner, with no cure. Retinal gen…
View article: Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations
Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations Open
This easily implemented, flexible, and objectively scored VR-O&M test promises to become a useful tool to assess the impact that IRDs and their treatments have on functional vision.
View article: Dynamic structural remodeling of the human visual system prompted by bilateral retinal gene therapy
Dynamic structural remodeling of the human visual system prompted by bilateral retinal gene therapy Open
The impact of changes in visual input on neuronal circuitry is complex and much of our knowledge on human brain plasticity of the visual systems comes from animal studies. Reinstating vision in a group of patients with low vision through r…
View article: Neuroplasticity of the Lateral Geniculate Nucleus in Response to Retinal Gene Therapy in a Group of Patients with RPE65 Mutations
Neuroplasticity of the Lateral Geniculate Nucleus in Response to Retinal Gene Therapy in a Group of Patients with RPE65 Mutations Open
These results show that despite significantly less volume at baseline, retinal gene therapy promotes robust expansion and increase in LGN volume. Reinstating vision may have facilitated the establishment of new connections between the reti…
View article: Overview of Retinal Gene Therapy: Current Status and Future Challenges
Overview of Retinal Gene Therapy: Current Status and Future Challenges Open
The success of the first Food and Drug Administration (FDA)- and European Medicines Agency (EMA)-approved gene therapy for genetic disease, voretigene neparovovec-rzyl, (Luxturna) has helped pave the way for development of retinal gene the…
View article: Restoration of Vision and Retinal Responses After Adeno-Associated Virus–Mediated Optogenetic Therapy in Blind Dogs
Restoration of Vision and Retinal Responses After Adeno-Associated Virus–Mediated Optogenetic Therapy in Blind Dogs Open
This work has translational relevance because the approach could potentially be extrapolated to treat humans who are totally blind because of retinal degenerative disease.
View article: Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated <i>hCHM</i> Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy
Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated <i>hCHM</i> Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy Open
Integrity of the cone mosaic is maintained following subretinal delivery of AAV2-hCHM, providing strong evidence in support of the safety of the injections. Minor foveal thinning observed following surgery corresponds with short-term cone …
View article: Improving the Quantification of the Lateral Geniculate Nucleus in Magnetic Resonance Imaging Using a Novel 3D-Edge Enhancement Technique
Improving the Quantification of the Lateral Geniculate Nucleus in Magnetic Resonance Imaging Using a Novel 3D-Edge Enhancement Technique Open
The lateral geniculate nucleus (LGN) is a small, inhomogeneous structure that relays major sensory inputs from the retina to the visual cortex. LGN morphology has been intensively studied due to various retinal diseases, as well as in the …
View article: 89 Five-year update for the Phase III voretigene neparvovec study in biallelic RPE65 mutation–associated inherited retinal disease
89 Five-year update for the Phase III voretigene neparvovec study in biallelic RPE65 mutation–associated inherited retinal disease Open
Goal To determine whether ambulatory navigation, light sensitivity, and visual field (VF) improvements 1 year after voretigene neparvovec (VN) administration in patients with biallelic RPE65 mutation-associated inherited retinal dystrophy …
View article: AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder
AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder Open
Patients with Zellweger spectrum disorder (ZSD) commonly present with vision loss due to mutations in PEX genes required for peroxisome assembly and function. Here, we evaluate PEX1 retinal gene augmentation therapy in a mouse model of mil…
View article: Bardet-Biedl syndrome-7 (<i>BBS7</i>) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model
Bardet-Biedl syndrome-7 (<i>BBS7</i>) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model Open
Purpose: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 geneMethods: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluat…
View article: Posterior Semicircular Canal Gene Delivery in the Adult Mammalian Inner Ear
Posterior Semicircular Canal Gene Delivery in the Adult Mammalian Inner Ear Open
Hearing loss is a common disability affecting the world’s population today. While several studies have shown that inner ear gene therapy can be successfully applied to mouse models of hereditary hearing loss to improve hearing, most of the…
View article: A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy
A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy Open
This study provides proof-of-concept data in support for the use of a virtual reality orientation and mobility test to quantify the impact of the disease and of treatments thereof on functional vision in inherited retinal degenerations.
View article: Progress in gene therapy for neurological disorders
Progress in gene therapy for neurological disorders Open
Diseases of the nervous system have devastating effects and are widely distributed among the population, being especially prevalent in the elderly. These diseases are often caused by inherited genetic mutations that result in abnormal nerv…
View article: Broader Implications of Progressive Liver Dysfunction and Lethal Sepsis in Two Boys following Systemic High-Dose AAV
Broader Implications of Progressive Liver Dysfunction and Lethal Sepsis in Two Boys following Systemic High-Dose AAV Open
By virtue of their transformational power, the technologies at the core of the gene therapy community have brought widespread public attention to the unique burden of previously neglected orphan diseases. On June 23, a report from Audentes…