Susanne Bartsch1, Junling Liu1, Mahmoud Bassal1, Wanda Jankowiak1, Martin S Spitzer1, Udo Bartsch2. 1. Klinik und Poliklinik für Augenheilkunde, Experimentelle Ophthalmologie, Universitätsklinikum Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Deutschland. 2. Klinik und Poliklinik für Augenheilkunde, Experimentelle Ophthalmologie, Universitätsklinikum Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Deutschland. ubartsch@uke.de.
Abstract
BACKGROUND: Neuronal ceroid lipofuscinosis (NCL) is a group of rare and fatal neurodegenerative lysosomal storage diseases. Progressive retinal degeneration and loss of vision are among the characteristic symptoms of affected patients. A brain-directed enzyme replacement therapy has been shown to significantly attenuate the neurological symptoms in CLN2 patients and is currently the only approved therapy for NCL; however, there is presently no treatment option for retinal dystrophy in NCL. OBJECTIVE: This short review aims to give an overview of preclinical studies that have developed and evaluated therapeutic strategies for the treatment of retinal dystrophy in animal models of different NCL forms. MATERIAL AND METHODS: The key findings of preclinical studies that have achieved positive therapeutic effects on retinal structure and/or function using different treatment strategies are summarized and discussed. RESULTS AND CONCLUSION: The published data on preclinical studies demonstrate the efficacy of different therapeutic strategies to attenuate retinal degeneration and vision loss in animal models for different NCL forms. It remains to be seen whether these promising results can be confirmed in future clinical studies.
BACKGROUND: Neuronal ceroid lipofuscinosis (NCL) is a group of rare and fatal neurodegenerative lysosomal storage diseases. Progressive retinal degeneration and loss of vision are among the characteristic symptoms of affected patients. A brain-directed enzyme replacement therapy has been shown to significantly attenuate the neurological symptoms in CLN2 patients and is currently the only approved therapy for NCL; however, there is presently no treatment option for retinal dystrophy in NCL. OBJECTIVE: This short review aims to give an overview of preclinical studies that have developed and evaluated therapeutic strategies for the treatment of retinal dystrophy in animal models of different NCL forms. MATERIAL AND METHODS: The key findings of preclinical studies that have achieved positive therapeutic effects on retinal structure and/or function using different treatment strategies are summarized and discussed. RESULTS AND CONCLUSION: The published data on preclinical studies demonstrate the efficacy of different therapeutic strategies to attenuate retinal degeneration and vision loss in animal models for different NCL forms. It remains to be seen whether these promising results can be confirmed in future clinical studies.
Authors: Rebecca E H Whiting; Grace Robinson Kick; Juri Ota-Kuroki; Stefanie Lim; Leilani J Castaner; Cheryl A Jensen; Joseph Kowal; Annalisa Nguyen; Carley Corado; Charles A O'Neill; Martin L Katz Journal: Exp Eye Res Date: 2020-07-04 Impact factor: 3.770
Authors: André R A Marques; Alessandro Di Spiezio; Niklas Thießen; Lina Schmidt; Joachim Grötzinger; Renate Lüllmann-Rauch; Markus Damme; Steffen E Storck; Claus U Pietrzik; Jens Fogh; Julia Bär; Marina Mikhaylova; Markus Glatzel; Mahmoud Bassal; Udo Bartsch; Paul Saftig Journal: Autophagy Date: 2019-07-16 Impact factor: 16.016
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