Cited by 173Retinal Development and DisordersRetinal Diseases and TreatmentsVirus-based gene therapy research

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Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives

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Garafalo, Alexandra V., Cideciyan, Artur V., Héon, Elise, Sheplock, Rebecca, Pearson, Alexander, WeiYang Yu, Caberry, Sumaroka, Alexander, Aguirre, Gustavo D., Jacobson, Samuel G.·2020·Progress in Retinal and Eye Research

DOI 10.1016/j.preteyeres.2019.100827PMC PMC8714059

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Abstract

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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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.
ORCID: Cideciyan, Artur V.
Héon, Elise
Pearson, Alexander
WeiYang Yu, Caberry
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)
DOI: 10.1016/j.preteyeres.2019.100827
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: cc-by-nc-nd
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
creativecommons.org/licenses/by-nc-nd/4.0/ (vor)
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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Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives

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