Inherited retinal diseases (IRDs) are a group of severe retinal degenerative diseases leading to permanent visual impairment. IRDs are the major cause of irreversible blindness in children and working age groups. Gene therapy is a new clinical treatment method and currently the only clear and effective treatment for IRDs, while, there are still risks in clinical research and application. How to standardize perioperative management and reduce the potential risks of treatment is one of the keys to ensure the safety and effectiveness of treatment. However, there is no systematic and standardized guidance on the perioperative management for IRDs gene therapy. Therefore, in order to standardize the perioperative management, the Fundus Disease Group of Ophthalmology Society of Chinese Medical Association and Chinese Medical Doctor Association organized domestic experts to put forward standardized opinions on the perioperative management of IRDs gene therapy in China after repeated discussion and combined with domestic and foreign research experience, so as to provide clinicians with reference and application in clinical research and practice.
Rapid development of recently emerging precision medicine techniques represented by gene therapy has brought hope for the treatment of rare blinding eye diseases such as inherited retinal diseases (IRDs) for which there was no effective treatment previously. Although the globally growth of clinical trials for IRDs has increased rapidly over the past decade, due to the highly genetic and clinical phenotypic heterogeneity, as well as limited data on epidemiology and natural history of the disease, along with severe loss of vision function of majority patients for which the established measurements may not be appropriate, such studies lack standard outcome measurements and endpoints to asses clinical meaningful effectiveness, posing great challenges in terms of study design and evaluation of treatment efficacy, as well as clinical practice application. At present, there is no systematic nor standardized guidance on safety measures, clinical outcomes and endpoints of visual function for clinical trial design in IRDs. Therefore, in order to standardize the validated evaluation of IRDs clinical efficacy outcome measurements and endpoints, the Fundus Disease Group of Chinese Medical Association Ophthalmology Branch and Fundus Disease Committee of Chinese Medical Doctor Association Ophthalmology Branch organized domestic experts to put forward consensus and recommendations on standardizing outcome measurements and endpoints for clinical study design in IRDs, aiming to advance the study design of IRDs natural history research and clinical trials and to effectively evaluate disease progression and intervention efficacy. Along with the development of medical science and clinical trials, relevant content will be improved and updated accordingly.