ReviewHuman gene therapy2012
Gene therapy of inherited retinopathies: a long and successful road from viral vectors to patients.
Review in Human gene therapy, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- [Gene therapy as a treatment concept for inherited retinal diseases].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2015Pooled it
- Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions.Journal of personalized medicine · 2026Review
- Long-Term Porcine Retina Explants as an Alternative to In Vivo Experimentation.Translational vision science & technology · 2024Article
- Potential therapeutic strategies for photoreceptor degeneration: the path to restore vision.Journal of translational medicine · 2022Review
- Delivery strategies for CRISPR/Cas genome editing tool for retinal dystrophies: challenges and opportunities.Asian journal of pharmaceutical sciences · 2022Review
- Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.Journal of Korean medical science · 2019Article
- Microglia in Retinal Degeneration.Frontiers in immunology · 2019Review
- High-Throughput Screening Identifies Kinase Inhibitors That Increase Dual Adeno-Associated Viral Vector Transduction In Vitro and in Mouse Retina.Human gene therapy · 2018Article
- Synthetic Adeno-Associated Viral Vector Efficiently Targets Mouse and Nonhuman Primate Retina In Vivo.Human gene therapy · 2018Article
- Delivery of Adeno-Associated Virus Vectors in Adult Mammalian Inner-Ear Cell Subtypes Without Auditory Dysfunction.Human gene therapy · 2018Article
- Genetic manipulation for inherited neurodegenerative diseases: myth or reality?The British journal of ophthalmology · 2016Review
- Human Adult Retinal Pigment Epithelial Stem Cell-Derived RPE Monolayers Exhibit Key Physiological Characteristics of Native Tissue.Investigative ophthalmology & visual science · 2015Article
- Beyond traditional pharmacology: new tools and approaches.British journal of pharmacology · 2015Review
- Improvement in vision: a new goal for treatment of hereditary retinal degenerations.Expert opinion on orphan drugs · 2015Article
- Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations.Gene therapy · 2015Article
- Gene Therapy of ABCA4-Associated Diseases.Cold Spring Harbor perspectives in medicine · 2015Review
- Vector platforms for gene therapy of inherited retinopathies.Progress in retinal and eye research · 2014Review
- Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.Developmental dynamics : an official publication of the American Association of Anatomists · 2014Review
- A novel formulation based on 2,3-di(tetradecyloxy)propan-1-amine cationic lipid combined with polysorbate 80 for efficient gene delivery to the retina.Pharmaceutical research · 2014Article
- Effect of bortezomib on the efficacy of AAV9.SERCA2a treatment to preserve cardiac function in a rat pressure-overload model of heart failure.Gene therapy · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Inherited retinopathies (IRs) are common and untreatable blinding conditions inherited mostly as monogenic due to mutations in genes expressed in retinal photoreceptors (PRs) and in retinal pigment epithelium (RPE). Over the last two decades, the retina has emerged as one of the most favorable target tissues for gene therapy given its small size and its enclosed and immune-privileged environment. Different types of viral vectors have been developed, especially those based on the adeno-associated virus (AAV), which efficiently deliver therapeutic genes to PRs or RPE upon subretinal injections. Dozens of successful proofs of concept of the efficacy of gene therapy for recessive and dominant IRs have been generated in small and large models that have paved the way to the first clinical trials using AAV in patients with Leber congenital amaurosis, a severe form of childhood blindness. The results from these initial trials suggest that retinal gene therapy with AAV is safe in humans, that vision can be improved in patients that have suffered from severe impairment of visual function, in some cases for decades, and that readministration of AAV to the subretinal space is feasible, effective, and safe. However, none of the trials could match the levels of efficacy of gene therapy observed in a dog model of the disease, suggesting that there is room for improvement. In conclusion, these results bode well for further testing of AAV-mediated retinal gene therapy in patients with other monogenic and complex forms of blindness.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.