Gene Therapy for Inherited RETINAL AND OPTIC NERVE Disorders: Current Knowledge
Authors:
Ľ. Ďuďáková 1*; B. Kousal 1,2*; H. Kolářová 1; L. Hlavatá 1,3; P. Lišková 1,2
Authors‘ workplace:
Ústav dědičných metabolických poruch, 1. lékařská fakulta, Univerzita Karlova v Praze a Všeobecná fakultní nemocnice, Praha, přednosta prof. MUDr. Viktor Kožich, CSc.
1; Oční klinika, 1. lékařská fakulta, Univerzita Karlova v Praze a Všeobecná fakultní nemocnice, Praha, přednostka doc. MUDr. Jarmila Heissigerová, Ph. D., MBA
2; Oční klinika JL, s. r. o., primář doc. MUDr. Ján Lešták, CSc., FEBO, MBA, LL. A, DBA, FAOG
3
Published in:
Čes. a slov. Oftal., 72, 2016, No. 4, p. 128-136
Category:
Original Article
Overview
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.
The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i.e. testing the efficacy and safety.
Because of the relatively easy accessibility of the retina and its ease of visualization which allows monitoring of efficacy, gene-based therapies for inherited retinal disorders represent a very promising treatment option. With the development of novel therapeutic approaches, the importance of establishing not only clinical but also molecular genetic diagnosis is obvious.
Key words:
gene therapy, monogenic retinal diseases, optic nerve atrophy, mitochondrial disease
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Czech and Slovak Ophthalmology
2016 Issue 4
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