Literature DB >> 33686777

Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.

Michalis Georgiou1,2, Kaoru Fujinami1,2,3,4, Michel Michaelides1,2.   

Abstract

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction. These disorders typically present with severe vision loss that can be progressive, with disease onset ranging from congenital to late adulthood. The advances in genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRDs, with the first approved gene therapy and the commencement of multiple clinical trials. The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Leber congenital amaurosis, (5) rod-cone dystrophies, (6) rod dysfunction syndromes and (7) chorioretinal dystrophies. We also briefly summarise the investigated end points for the ongoing trials.
© 2021 The Authors. Clinical & Experimental Ophthalmology published by John Wiley & Sons Australia, Ltd on behalf of Royal Australian and New Zealand College of Ophthalmologists.

Entities:  

Keywords:  gene therapy; inherited retinal disease; pharmacological therapy; retina; stem cell

Year:  2021        PMID: 33686777     DOI: 10.1111/ceo.13917

Source DB:  PubMed          Journal:  Clin Exp Ophthalmol        ISSN: 1442-6404            Impact factor:   4.207


  11 in total

1.  In Vivo Potency Testing of Subretinal rAAV5.hCNGB1 Gene Therapy in the Cngb1 Knockout Mouse Model of Retinitis Pigmentosa.

Authors:  Johanna E Wagner; Lena Zobel; Maximilian J Gerhardt; Catherine R O'Riordan; Amy Frederick; Simon M Petersen-Jones; Martin Biel; Stylianos Michalakis
Journal:  Hum Gene Ther       Date:  2021-09-20       Impact factor: 4.793

2.  Precision genome editing in the eye.

Authors:  Susie Suh; Elliot H Choi; Aditya Raguram; David R Liu; Krzysztof Palczewski
Journal:  Proc Natl Acad Sci U S A       Date:  2022-09-19       Impact factor: 12.779

3.  Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa.

Authors:  Jay Jiyong Kwak; Hae Rang Kim; Suk Ho Byeon
Journal:  Yonsei Med J       Date:  2022-07       Impact factor: 3.052

Review 4.  Immunologic Rejection of Transplanted Retinal Pigmented Epithelium: Mechanisms and Strategies for Prevention.

Authors:  Carson C Petrash; Alan G Palestine; M Valeria Canto-Soler
Journal:  Front Immunol       Date:  2021-05-12       Impact factor: 7.561

Review 5.  Achromatopsia: Genetics and Gene Therapy.

Authors:  Stylianos Michalakis; Maximilian Gerhardt; Günther Rudolph; Siegfried Priglinger; Claudia Priglinger
Journal:  Mol Diagn Ther       Date:  2021-12-03       Impact factor: 4.074

Review 6.  The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease.

Authors:  Luis A Martinez Velazquez; Brian G Ballios
Journal:  Int J Mol Sci       Date:  2021-10-26       Impact factor: 5.923

7.  Generation of 3D retinal tissue from human pluripotent stem cells using a directed small molecule-based serum-free microwell platform.

Authors:  Hassan Rashidi; Yeh Chwan Leong; Kerrie Venner; Hema Pramod; Qi-Zhen Fei; Owen J R Jones; Dale Moulding; Jane C Sowden
Journal:  Sci Rep       Date:  2022-04-22       Impact factor: 4.996

Review 8.  The Role of Hsp90 in Retinal Proteostasis and Disease.

Authors:  Kalliopi Ziaka; Jacqueline van der Spuy
Journal:  Biomolecules       Date:  2022-07-12

Review 9.  Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy.

Authors:  Rajani Battu; Dhanashree Ratra; Lingam Gopal
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

10.  Increased H3K27 trimethylation contributes to cone survival in a mouse model of cone dystrophy.

Authors:  Annie L Miller; Paula I Fuller-Carter; Klaudija Masarini; Marijana Samardzija; Kim W Carter; Rabab Rashwan; Xin Ru Lim; Alicia A Brunet; Abha Chopra; Ramesh Ram; Christian Grimm; Marius Ueffing; Livia S Carvalho; Dragana Trifunović
Journal:  Cell Mol Life Sci       Date:  2022-07-10       Impact factor: 9.207

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