ArticleOphthalmology2017
The Role of the Human Visual Cortex in Assessment of the Long-Term Durability of Retinal Gene Therapy in Follow-on RPE65 Clinical Trial Patients.
Article in Ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.Translational vision science & technology · 2023Pooled it
- Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial.Nature communications · 2024Trial
- Lateral Geniculate Nucleus Volume Assessment Using Linear Mixed Model in Moderate and Advanced Retinitis Pigmentosa.Journal of clinical medicine · 2026Article
- Direct Chemical Reprogramming of Human Fibroblasts into Retinal Progenitor-like Cells for Ocular Delivery.Journal of functional biomaterials · 2026Article
- Characterizing Inner Retinal Changes in End-Stage Inherited Retinal Diseases That Might be Suitable for Optogenetic Therapies.Translational vision science & technology · 2025Article
- Improvements induced by retinal gene therapy with voretigene neparvovec depend on visual cortical hemispheric dominance mechanisms.Communications medicine · 2025Article
- Neuroimaging Applications for the Delivery and Monitoring of Gene Therapy for Central Nervous System Diseases.Human gene therapy · 2024Review
- Central visual pathways affected by degenerative retinal disease before and after gene therapy.Brain : a journal of neurology · 2024Article
- Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.Eye (London, England) · 2024Article
- Trial by "Firsts": Clinical Trial Design and Regulatory Considerations in the Development and Approval of the First AAV Gene Therapy Product in the United States.Cold Spring Harbor perspectives in medicine · 2023Review
- Comparison of Stimulus Types for Retinotopic Cortical Mapping of Macular Disease.Translational vision science & technology · 2023Article
- Dynamic structural remodeling of the human visual system prompted by bilateral retinal gene therapy.Current research in neurobiology · 2023Article
- Retinoid therapy restores eye-specific cortical responses in adult mice with retinal degeneration.Current biology : CB · 2022Article
- Neuroplasticity of the Lateral Geniculate Nucleus in Response to Retinal Gene Therapy in a Group of Patients withEye and brain · 2022Article
- Sight restoration reverses blindness-induced cross-modal functional connectivity changes between the visual and somatosensory cortex at rest.Frontiers in neuroscience · 2022Article
- Cortical Visual Mapping following Ocular Gene Augmentation Therapy for Achromatopsia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients.Translational vision science & technology · 2021Article
- RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy.Orphanet journal of rare diseases · 2021Article
- Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Review
- Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
purposeGene therapy (GT) has offered immense hope to individuals who are visually impaired because of RPE65 mutations. Although GT has shown great success in clinical trials enrolling these individuals, evidence for stability and durability of this treatment over time is still unknown. Herein we explored the value of functional magnetic resonance imaging (fMRI) as an objective measure to assess independently the longevity of retinal GT.
designIndividuals with RPE65 mutations who underwent GT in their worse-seeing eye in a phase 1 clinical trial received a second subretinal injection in their contralateral eye in a follow-on clinical trial. Functional magnetic resonance imaging (MRI) was performed longitudinally to assess brain responses of patients with RPE65 mutations after stimulation of their most recently treated eye before and 1 to 3 years after GT.
participantsSeven participants with RPE65 mutations who were part of the follow-on clinical trial gave informed consent to participate in a longitudinal neuroimaging fMRI study.
methodsAll participants underwent fMRI using a 3-Tesla MRI system and a 32-channel head coil. Participants' cortical activations were assessed using a block design paradigm of contrast reversing checkerboard stimuli delivered using an MRI-compatible video system.
main outcome measuresThe primary parameters being measured in this study were the qualitative and quantitative fMRI cortical activations produced by our population in response to the visual task.
resultsFunctional MRI results showed minimal or no cortical responses before GT. Significant increase in cortical activation lasting at least 3 years after GT was observed for all participants. Repeated measures analysis showed significant associations between cortical activations and clinical measures such as full-field light sensitivity threshold for white, red, and blue colors; visual field; and pupillary light reflex.
conclusionsParticipants with RPE65 mutations showed intact visual pathways, which became responsive and strengthened after treatment. Functional MRI results independently revealed the efficacy and durability of a 1-time subretinal injection. The fMRI results paralleled those recently reported during the long-term clinical evaluations of the same patients. Results from this study demonstrated that fMRI may play an important role in providing complementary information to patients' ophthalmic clinical evaluation and has usefulness as an outcome measure for future retinal intervention studies.
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Registered trials
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