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Pharmaceutics
Special Issues
Gene- and Cell-Based Therapies for Retinal Diseases
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Gene- and Cell-Based Therapies for Retinal Diseases

A special issue of Pharmaceutics (ISSN 1999-4923). This special issue belongs to the section "Gene and Cell Therapy".

Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 10298

Special Issue Editors

Dr. Kerstin Nagel-Wolfrum

E-Mail Website
Guest Editor
Institute of Molecular Physiology, Johannes Gutenberg University, 55099 Mainz, Germany
Interests: gene-based therapy; hereditary retinal disorders; translational read-through
Dr. Knut Stieger

E-Mail Website
Guest Editor
Department of Ophthalmology, Justus-Liebig-University Giessen, 35390 Giessen, Germany
Interests: genome editing; AAV vectors; inherited retinal diseases

Special Issue Information

Dear Colleagues,

Vision loss due to inherited retinal dystrophies is a severe and mostly untreatable burden for 2–4 million patients worldwide. Thus, innovative strategies defeating neuronal dysfunction and cell loss are urgently needed. Gene- and cell-based therapies take center stage in the attempt to find effective ways to treat retinal diseases. In addition, interdisciplinary research approaches to identify factors influencing the outcome of those therapies such as inflammation and vector-related immune responses, and the development of robust and meaningful read-out parameters for upcoming clinical trials are needed.  

In this Special Issue, entitled "Gene- and Cell-Based Therapies for Retinal Diseases", we invite scientists to contribute original research or review articles to provide a comprehensive overview of current activities in this field of science and to highlight potential new areas of therapeutic development.

Dr. Kerstin Nagel-Wolfrum
Dr. Knut Stieger
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Pharmaceutics is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • gene-based therapy
  • cell therapy
  • genome editing
  • AAV vectors
  • small molecules
  • cell transplantation
  • neuroinflammation in the retina
  • ocular immune response
  • clinical read-out parameter

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Published Papers (3 papers)

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Research

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20 pages, 2876 KiB  
Article
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
by Naomi Chadderton, Arpad Palfi, Daniel M. Maloney, Matthew Carrigan, Laura K. Finnegan, Killian S. Hanlon, Ciara Shortall, Mary O’Reilly, Peter Humphries, Lorraine Cassidy, Paul F. Kenna, Sophia Millington-Ward and G. Jane Farrar
Pharmaceutics 2023, 15(2), 322; https://doi.org/10.3390/pharmaceutics15020322 - 18 Jan 2023
Cited by 4 | Viewed by 4232
Abstract
AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical trials. Many ocular disorders have a mitochondrial involvement from primary mitochondrial [...] Read more.
AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical trials. Many ocular disorders have a mitochondrial involvement from primary mitochondrial disorders such as Leber hereditary optic neuropathy (LHON), predominantly due to mutations in genes encoding subunits of complex I, to Mendelian and multifactorial ocular conditions such as dominant optic atrophy, glaucoma and age-related macular degeneration. In this study, we have optimised the nuclear yeast gene, NADH-quinone oxidoreductase (NDI1), which encodes a single subunit complex I equivalent, creating a candidate gene therapy to improve mitochondrial function, independent of the genetic mutation driving disease. Optimisation of NDI1 (ophNdi1) substantially increased expression in vivo, protected RGCs and increased visual function, as assessed by optokinetic and photonegative response, in a rotenone-induced murine model. In addition, ophNdi1 increased cellular oxidative phosphorylation and ATP production and protected cells from rotenone insult to a significantly greater extent than wild type NDI1. Significantly, ophNdi1 treatment of complex I deficient patient-derived fibroblasts increased oxygen consumption and ATP production rates, demonstrating the potential of ophNdi1 as a candidate therapy for ocular disorders where mitochondrial deficits comprise an important feature. Full article
(This article belongs to the Special Issue Gene- and Cell-Based Therapies for Retinal Diseases)
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Review

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12 pages, 247 KiB  
Review
Instrumental Activities of Daily Living Tools in Very-Low Vision: Ready for Use in Trials?
by Jan Henrik Terheyden, David J. Fink, Susanne G. Pondorfer, Frank G. Holz and Robert P. Finger
Pharmaceutics 2022, 14(11), 2435; https://doi.org/10.3390/pharmaceutics14112435 - 10 Nov 2022
Cited by 2 | Viewed by 1640
Abstract
Traditional endpoints assessing visual function are limited by their responsiveness to interventions restoring or maintaining vision. An alternative concept is assessing instrumental activities of daily living (IADL). Herein, we review all available vision-specific IADL instruments relevant for vision restoration trials and report data [...] Read more.
Traditional endpoints assessing visual function are limited by their responsiveness to interventions restoring or maintaining vision. An alternative concept is assessing instrumental activities of daily living (IADL). Herein, we review all available vision-specific IADL instruments relevant for vision restoration trials and report data for the most promising instrument. Six relevant instruments exist: The Low Vision Functional Status Evaluation (LVFSE), Timed IADL (TIADL), Melbourne Low-Vision Activities of Daily Living Index (MLVAI), Assessment of Disability Related to Vision (ADREV), Functional Low-Vision Observer Rated Assessment (FLORA), and Very Low Vision IADL (IADL-VLV). Both internal consistency and test-retest data were available for the LVFSE, MLVAI, and IADL-VLV. In a sample from a low-vision clinic (n = 51; age 57 ± 16 years), we report additional validation data on the IVI-VLV including test–retest reliability (intraclass correlation coefficient 0.981 [0.961; 0.991]). The LVSFE was noticeably less reliable than the MLVAI and the IADL-VLV. Content and construct validity data were available for the LVFSE, TIADL, MLVAI, ADREV, and IADL-VLV, but only the MLVAI and IADL-VLV were developed for an ultra-low vision context. Ceiling effects were present across instruments. Thus, of all appropriate IADL instruments related to vision, the IADL-VLV and MLVAI best meet existing requirements for use in vision restoration trials, e.g., in gene therapies or visual prostheses in inherited retinal diseases, but require further validation. Full article
(This article belongs to the Special Issue Gene- and Cell-Based Therapies for Retinal Diseases)
21 pages, 2053 KiB  
Review
Immune Responses to Gene Editing by Viral and Non-Viral Delivery Vectors Used in Retinal Gene Therapy
by Duohao Ren, Sylvain Fisson, Deniz Dalkara and Divya Ail
Pharmaceutics 2022, 14(9), 1973; https://doi.org/10.3390/pharmaceutics14091973 - 19 Sep 2022
Cited by 20 | Viewed by 3947
Abstract
Inherited retinal diseases (IRDs) are a leading cause of blindness in industrialized countries, and gene therapy is quickly becoming a viable option to treat this group of diseases. Gene replacement using a viral vector has been successfully applied and advanced to commercial use [...] Read more.
Inherited retinal diseases (IRDs) are a leading cause of blindness in industrialized countries, and gene therapy is quickly becoming a viable option to treat this group of diseases. Gene replacement using a viral vector has been successfully applied and advanced to commercial use for a rare group of diseases. This, and the advances in gene editing, are paving the way for the emergence of a new generation of therapies that use CRISPR–Cas9 to edit mutated genes in situ. These CRISPR-based agents can be delivered to the retina as transgenes in a viral vector, unpackaged transgenes or as proteins or messenger RNA using non-viral vectors. Although the eye is considered to be an immune-privileged organ, studies in animals, as well as evidence from clinics, have concluded that ocular gene therapies elicit an immune response that can under certain circumstances result in inflammation. In this review, we evaluate studies that have reported on pre-existing immunity, and discuss both innate and adaptive immune responses with a specific focus on immune responses to gene editing, both with non-viral and viral delivery in the ocular space. Lastly, we discuss approaches to prevent and manage the immune responses to ensure safe and efficient gene editing in the retina. Full article
(This article belongs to the Special Issue Gene- and Cell-Based Therapies for Retinal Diseases)
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