Expert consensus and recommendations on the evaluation of visual function and outcome measurements in clinical trials for inherited retinal diseases in China_Chinese Journal of Ocular Fundus Diseases

Authors：

 Fundus Disease Group of Chinese Medical Association Ophthalmology Branch ,  Fundus Disease Committee of Chinese Medical Doctor Association Ophthalmology Branch

Corresponding author: Sun Xiaodong, Email: xdsun@sjtu.edu.cn; Xu Xun, Email: drxuxun@sjtu.edu.cn;

Corresponding?author：

Keywords：

Eye diseases, hereditary; Retinal diseases; Clinical trial; Efficacy outcome measurement; Endpoint; Consensus International Practice Guidelines register: http://www.guidelines-registry.cn/, IPGRP-2022CN351

DOI：

10.3760/cma.j.cn511434-20220808-00443

Video：

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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.

Citation： Fundus Disease Group of Chinese Medical Association Ophthalmology Branch, Fundus Disease Committee of Chinese Medical Doctor Association Ophthalmology Branch. Expert consensus and recommendations on the evaluation of visual function and outcome measurements in clinical trials for inherited retinal diseases in China. Chinese Journal of Ocular Fundus Diseases, 2022, 38(8): 626-635. doi: 10.3760/cma.j.cn511434-20220808-00443 Copy

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3. Wang D, Tai PWL, Gao G. Adeno-associated virus vector as a platform for gene therapy delivery[J]. Nat Rev Drug Discov, 2019, 18(5): 358-378. DOI: 10.1038/s41573-019-0012-9.
4. Food and Drug Administration. Human Gene Therapy for Retinal Disorders[EB/OL](2020-01-01)[2022-08-08]. https://www.fda.gov/regulatory-information/search-fda-guidance-documents/human-gene-therapy-retinal-disorders.
5. Csaky K, Ferris F 3rd, Chew EY, et al. Report from the NEI/FDA endpoints workshop on age-related macular degeneration and inherited retinal diseases[J]. Invest Ophthalmol Vis Sci, 2017, 58(9): 3456-3463. DOI: 10.1167/iovs.17-22339.
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8. Thompson DA, Iannaccone A, Ali RR, et al. Advancing clinical trials for inherited retinal diseases: recommendations from the second monaciano symposium[J]. Transl Vis Sci Technol, 2020, 9(7): 2. DOI: 10.1167/tvst.9.7.2.
9. Chung DC, Birch DG, MacLaren RE. Endpoints for measuring efficacy in clinical trials for inherited retinal disease[J]. Int Ophthalmol Clin, 2021, 61(4): 63-78. DOI: 10.1097/IIO.0000000000000388.
10. 李楊. 遺傳性眼病致病基因突變分析中應重視臨床表型的評估[J]. 中華實驗眼科雜志, 2017, 35(8): 673-676. DOI: 10.3760/cma.j.issn.2095-0160.2017.08.001.Li Y. Clinical phenotype assessment is very important in mutation analysis for patients with hereditary eye disease[J]. Chin J Exp Ophthalmol, 2017, 35(8): 673-676. DOI: 10.3760/cma.j.issn.2095-0160.2017.08.001.
11. Botto C, Rucli M, Tekinsoy MD, et al. Early and late stage gene therapy interventions for inherited retinal degenerations[J/OL]. Prog Retin Eye Res, 2022, 86: 100975[2021-05-29]. https://pubmed.ncbi.nlm.nih.gov/34058340/. DOI: 10.1016/j.preteyeres.2021.100975.
12. Georgiou M, Fujinami K, Michaelides M. Inherited retinal diseases: therapeutics, clinical trials and end points-a review[J]. Clin Exp Ophthalmol, 2021, 49(3): 270-288. DOI: 10.1111/ceo.13917.
13. Kumaran N, Moore AT, Weleber RG, et al. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions[J]. Br J Ophthalmol, 2017, 101(9): 1147-1154. DOI: 10.1136/bjophthalmol-2016-309975.
14. Daich Varela M, Georgiou M, Hashem SA, et al. Functional evaluation in inherited retinal disease[J/OL]. Br J Ophthalmol, 2021, 11: bjophthalmol-2021-319994[2021-11-25]. https://pubmed.ncbi.nlm.nih.gov/34824084/. DOI: 10.1136/bjophthalmol-2021-319994.
15. Russell S, Bennett J, Wellman JA, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial[J]. Lancet, 2017, 390(10097): 849-860. DOI: 10.1016/s0140-6736(17)31868-8.
16. Roman AJ, Cideciyan AV, Wu V, et al. Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease[J/OL]. Prog Retin Eye Res, 2022, 87: 101000[2021-08-28]. https://pubmed.ncbi.nlm.nih.gov/34464742/. DOI: 10.1016/j.preteyeres.2021.101000.
17. Chung DC, McCague S, Yu ZF, et al. Novel mobility test to assess functional vision in patients with inherited retinal dystrophies[J]. Clin Exp Ophthalmol, 2018, 46(3): 247-259. DOI: 10.1111/ceo.13022.
18. Kaiser PK. Prospective evaluation of visual acuity assessment: a comparison of snellen versus ETDRS charts in clinical practice (An AOS Thesis)[J]. Trans Am Ophthalmol Soc, 2009, 107: 311-324.
19. Csaky KG, Richman EA, Ferris FL 3rd. Report from the NEI/FDA Ophthalmic Clinical Trial Design and Endpoints Symposium[J]. Invest Ophthalmol Vis Sci, 2008, 49(2): 479-489. DOI: 10.1167/iovs.07-1132.
20. Chaplin PK, Bradford GE. A historical review of distance vision screening eye charts: what to toss, what to keep, and what to replace[J]. NASN Sch Nurse, 2011, 26(4): 221-228. DOI: 10.1177/1942602x11411094.
21. Sunness JS, Rubin GS, Broman A, et al. Low luminance visual dysfunction as a predictor of subsequent visual acuity loss from geographic atrophy in age-related macular degeneration[J]. Ophthalmology, 2008, 115(9): 1480-1488. DOI: 10.1016/j.ophtha.2008.03.009.
22. Alexander KR, Derlacki DJ, Fishman GA, et al. Acuity-luminance and foveal increment threshold functions in retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci, 1991, 32(5): 1446-1454.
23. Fishman GA, Bozbeyoglu S, Massof RW, et al. Natural course of visual field loss in patients with type 2 Usher syndrome[J]. Retina, 2007, 27(5): 601-608. DOI: 10.1097/01.iae.0000246675.88911.2c.
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Chinese Journal of Ocular Fundus Diseases

Expert consensus and recommendations on the evaluation of visual function and outcome measurements in clinical trials for inherited retinal diseases in China

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