Paying attention to the natural course of disease for a development of gene therapy of inherited retinal diseases / 中华实验眼科杂志

ABSTRACT

Most inherited retinal diseases (IRDs) severely impair vision and lack effective treatments.With the approval of Luxturna, the world's first gene therapy drug for IRDs in 2017 by the U. S.FDA, gene therapy has brought new hope for the treatment of the disease.With an early onset and a relatively small number of patients, the understanding of the natural course of IRDs is limited in the past.The research on gene therapy of IRDs is mainly based on the in-depth understanding of the pathogenesis and natural course of disease, and the selection of the optimal treatment window for the implementation of gene therapy is the premise of successful treatment.At the same time, the main vector for gene therapy is recombinant virus vector, and its tissue-immunogenicity, tumorigenicity, safety of its integration with host cells and effectiveness determine the outcome of therapy, so the evaluation technology of IRDs gene therapy needs to be established.Gene therapy for ophthalmic diseases also involves the consideration of laws and regulations, ethics, product process, races and regional environment, disease progression, gene mutation types, patient benefit and risk ratio, and other factors.Therefore, it is of great significance to take full account of the differences in IRDs population, especially the particularity of children patients, and actively carry out the study on the natural course of IRDs in China for the scientific and normative development of clinical trials of gene therapy, the effective establishment of endpoint and outcome indicators for clinical studies of gene therapy, and the compliance with international norms of ethics.