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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
Citations
Cites
Human photoreceptor topography
Curcio, C. A., Sloan, K. R., Kalina, R. E., & Hendrickson, A. E. (1990) · The Journal of Comparative Neurology · doi:10.1002/cne.902920402 · Cited by 2,792
Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802315 · Cited by 2,145
Russell, S., Bennett, J., Wellman, J. A., Chung, D. C., Yu, Z.-F., Tillman, A., Wittes, J., Pappas, J., Elci, O., McCague, S., et al. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31868-8 · Cited by 1,952
Effect of gene therapy on visual function in Leber’s congenital amaurosis
Bainbridge, J. W. B., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802268 · Cited by 1,924
Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435 · cited 1×
“The molecular mechanisms and human phenotypes of this group of diseases have been well explored and therapeutic concepts other than gene augmentation have been proposed and initiated (Allikmets et al., 1997; Sparrow et al., 1999; Fishman et al., 2003; Sears et al., 2017).”
Gene therapy restores vision in a canine model of childhood blindness
Acland, G. M., Aguirre, G. D., Ray, J., Zhang, Q., Aleman, T. S., Cideciyan, A. V., Pearce-Kelling, S. E., Anand, V., Zeng, Y., Maguire, A. M., et al. (2001) · Nature Genetics · doi:10.1038/ng0501-92 · Cited by 1,202 · cited 2×
“This stimulated the interest of the more clinically-minded scientists; and, as such, translation to the clinic became imaginable (Acland et al., 2001, 2005; Cideciyan, 2010).”
Self-citationNon-syndromic retinitis pigmentosa
Verbakel, S. K., van Huet, R. A. C., Boon, C. J. F., den Hollander, A. I., Collin, R. W. J., Klaver, C. C. W., Hoyng, C. B., Roepman, R., & Klevering, B. J. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.03.005 · Cited by 973
Hauswirth, W. W., Aleman, T. S., Kaushal, S., Cideciyan, A. V., Schwartz, S. B., Wang, L., Conlon, T. J., Boye, S. L., Flotte, T. R., Byrne, B. J., et al. (2008) · Human Gene Therapy · doi:10.1089/hum.2008.107 · Cited by 954
Self-citationRpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
Redmond., T. M., Yu, S., Lee, E., Bok, D., Hamasaki, D., Chen, N., Goletz, P., Ma, J.-X., Crouch, R. K., & Pfeifer, K. (1998) · Nature Genetics · doi:10.1038/3813 · Cited by 929
Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat
D'Cruz, P. M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.645 · Cited by 884
Research works printed but not linked: 3
- Green, 2017, Baseline characteristics of patients with RLBP1 retinitis pigmentosa enrolled in a prospective natural history study, Investig. Ophthalmol. Vis. Sci., 58, 3254
- Iannaccone, 2005, The genetics of hereditary retinopathies and optic neuropathies, Compr. Ophthalmol. Update, 6, 39
- Ni, 2017, Full-field stimulus threshold dark-adaptation kinetics over two-year follow-up in patients with RLBP1 retinitis pigmentosa enrolled in a prospective natural history study, Investig. Ophthalmol. Vis. Sci., 58, 3249
Cited by
Sorted by citations
Current clinical applications of in vivo gene therapy with AAVs
Mendell, J. R., Al-Zaidy, S. A., Rodino-Klapac, L. R., Goodspeed, K., Gray, S. J., Kay, C. N., Boye, S. L., Boye, S. E., George, L. A., Salabarria, S., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2020.12.007 · Cited by 743
Herrera‐Barrera, M., Ryals, R. C., Gautam, M., Jozić, A., Landry, M. R., Korzun, T., Gupta, M., Acosta, C., Stoddard, J., Reynaga, R., et al. (2023) · Science Advances · doi:10.1126/sciadv.add4623 · Cited by 248
Schneider, N., Sundaresan, Y., Gopalakrishnan, P., Beryozkin, A., Hanany, M., Levanon, E. Y., Banin, E., Ben‐Aroya, S., & Sharon, D. (2021) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2021.101029 · Cited by 231
Mechanisms of Photoreceptor Death in Retinitis Pigmentosa
Newton, F. G., & Megaw, R. D. (2020) · Genes · doi:10.3390/genes11101120 · Cited by 210
Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy
Maguire, A. M., Bennett, J., Aleman, E. M., Leroy, B. P., & Alemán, T. S. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.11.029 · Cited by 189
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
