The DOI matches its Crossref record; 235 of the 247 references it cites were found in a registry or an index.
Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives
Open accessAbstract
Due to improved phenotyping and genetic characterization, the field of 'incurable' and 'blinding' inherited retinal diseases (IRDs) has moved substantially forward. Decades of ascertainment of IRD patient data from Philadelphia and Toronto centers illustrate the progress from Mendelian genetic types to molecular diagnoses. Molecular genetics have been used not only to clarify diagnoses and to direct counseling but also to enable the first clinical trials of gene-based treatment in these diseases. An overview of the recent reports of gene augmentation clinical trials by subretinal injections is used to reflect on the reasons why there has been limited success in this early venture into therapy. These first-in human experiences have taught that there is a need for advancing the techniques of delivery of the gene products - not only for refining further subretinal trials, but also for evaluating intravitreal delivery. Candidate IRDs for intravitreal gene delivery are then suggested to illustrate some of the disorders that may be amenable to improvement of remaining central vision with the least photoreceptor trauma. A more detailed understanding of the human IRDs to be considered for therapy and the calculated potential for efficacy should be among the routine prerequisites for initiating a clinical trial.
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“subfoveal viral gene therapy has been associated with various adverse effects, such as RPE alterations, retinal thinning, foveal morphological changes, vision loss, and the variable duration of clinical effects [281,294,296,297,298].”
From Bruch’s Membrane: A Key Consideration with Complement-Based Therapies for Age-Related Macular Degeneration (2023) · cites this paper as [281]
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Metadata
- Authors
- Garafalo, A. V., Cideciyan, A. V., Héon, E., Sheplock, R., Pearson, A., WeiYang Yu, C., Sumaroka, A., Aguirre, G. D., & Jacobson, S. G.
- Affiliations
- University of Pennsylvania (US)
- University of Toronto (CA)
- Corresponding author
- Jacobson, Samuel G.
- Venue
- Progress in Retinal and Eye Research
- Publisher
- Elsevier BV
- Published
- 2020-07
- Volume
- 77
- Pages
- 100827
- ISSN
- 1350-9462 (ISSN-L)
- PMC
- PMC8714059
- OpenAlex
- W2996789825
- Cited by
- 173
- References
- 247
- Citations by year
- 2026: 9 · 2025: 18 · 2024: 17 · 2023: 26 · 2022: 28 · 2021: 48 · 2020: 27
- FWCI
- 2.27
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Progress in Retinal and Eye Research (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health/National Eye Institute (EY-017549)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Keywords
- inherited retinal disease, subretinal gene therapy, gene augmentation, clinical trials, intravitreal gene delivery, molecular diagnosis, genetic counseling, photoreceptors, retinal degeneration
- MeSH terms
- Clinical Trials as Topic, Humans, Retinal Degeneration, Retinitis Pigmentosa, Genetic Therapy, Eye Diseases, Hereditary, Gene Transfer Techniques, Leber Congenital Amaurosis
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