Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey.

IF 2 4区 医学 Q2 OPHTHALMOLOGY
Ophthalmic Research Pub Date : 2023-01-01 Epub Date: 2023-03-06 DOI:10.1159/000529777
Birgit Lorenz, Joana Tavares, L Ingeborgh van den Born, João Pedro Marques, Elisabetta Pilotto, Katarina Stingl, Peter Charbel Issa, Dorothée Leroux, Hélène Dollfus, Hendrik P N Scholl
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引用次数: 0

Abstract

Introduction: The aim of this study was to evaluate the current management of RPE65 biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of voretigene neparvovec (VN, LuxturnaTM) in 2018. By July 2022, over 200 patients have been treated outside the USA, of whom about 90% in Europe. We conducted among all centers of the European Vision Institute Clinical Research Network www.evicr.net and health care providers (HCPs) of the European Reference Network dedicated to Rare Eye Diseases (ERN-EYE) the second multinational survey on management of IRDs in Europe elaborated by www.evicr.net with a special focus on RPE65-IRD.

Methods: An electronic survey questionnaire with 48 questions specifically addressing RPE65-IRD (2019 survey 35) was developed and sent by June 2021 to 95 www.evicr.net centers and 40 ERN-EYE HCPs and affiliated members. Of note, 11 centers are members of both networks. Statistical analysis was performed with Excel and R.

Results: The overall response rate was 44% (55/124); 26 centers follow RPE65 biallelic mutation-associated IRD patients. By June 2021, 8/26 centers have treated 57 RPE65-IRD cases (1-19/center, median 6) and 43 planned for treatment (range 0-10/center, median 6). The overall age range was 3-52 years, and on average 22% of the patients did not (yet) qualify for treatment (range 2-60%/center, median 15%). Main reasons were too advanced (range 0-100, median 75%) or mild disease (range 0-100, median 0). Eighty-three percent of centers (10/12) that follow RPE65 mutation-associated IRD patients treated with VN participate in the PERCEIVE registry (EUPAS31153, www.encepp.eu. Quality of life and full-field stimulus test improvements had the highest scores of the survey-reported outcome parameters in VN treatment follow-up.

Conclusion: This second multinational survey on management of RPE65-IRD by www.evicr.net centers and ERN-EYE HCPs in Europe indicates that RPE65-IRD might be diagnosed more reliably in 2021 compared to 2019. By June 2021, 8/26 centers reported detailed results including VN treatment. Main reasons for non-treatment were too advanced or mild disease, followed by absence of 2 class 4 or 5 mutations on both alleles or because of a too young age. Patient satisfaction with treatment was estimated to be high by 50% of the centers.

欧洲RPE65突变相关遗传性视网膜变性患者的治疗现状:一项为期2年的多国随访调查结果。
引言:本研究的目的是评估自2018年voretigene neparvovec(VN,LuxturnaTM)获得市场授权以来,欧洲对RPE65双等位基因突变相关遗传性视网膜变性(RPE65-IRD)的管理现状。截至2022年7月,已有200多名患者在美国境外接受治疗,其中约90%在欧洲。我们在欧洲视觉研究所临床研究网络(EVICR.net)的所有中心和欧洲罕见眼病参考网络(ERN-Eye)的医疗保健提供者(HCP)中进行了第二次由EVICR.net详细阐述的欧洲IRD管理跨国调查,特别关注RPE65-IRD。方法:一份包含48个问题的电子调查问卷专门针对RPE65-IRD(2019年调查35)的报告已编制完成,并于2021年6月发送给95个EVICR.net中心和40个ERN-EYE HCP及其附属成员。值得注意的是,有11个中心是这两个网络的成员。结果:总有效率为44%(55/124);26个中心跟踪RPE65双等位基因突变相关IRD患者。截至2021年6月,8/26个中心已治疗57例RPE65-IRD病例(1-19/中心,中位数6),43例计划治疗(0-10/中心,中值6)。总体年龄范围为3-52岁,平均22%的患者(尚未)符合治疗条件(范围2-60%/中心,中位数15%)。主要原因是病情过重(0-100,中位数75%)或轻度疾病(0-100、中位数0)。追踪用VN治疗的RPE65突变相关IRD患者的83%的中心(10/12)参与PERCERIVE登记(EUPAS31153,http://www.encepp.eu/encepp/viewResource.htm?id=37005)。在VN治疗随访的调查报告结果参数中,生活质量和全场刺激测试的改善得分最高。结论:欧洲EVICR.net中心和ERN-EYE HCP对RPE65-IRD管理的第二次跨国调查表明,与2019年相比,2021年RPE65-IRD的诊断可能更可靠。截至2021年6月,8/26个中心报告了包括VN治疗在内的详细结果。不接受治疗的主要原因是疾病太严重或太轻,其次是两个等位基因上都没有2个4或5类突变,或者年龄太小。据估计,50%的中心的患者对治疗的满意度很高。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Ophthalmic Research
Ophthalmic Research 医学-眼科学
CiteScore
3.80
自引率
4.80%
发文量
75
审稿时长
6-12 weeks
期刊介绍: ''Ophthalmic Research'' features original papers and reviews reporting on translational and clinical studies. Authors from throughout the world cover research topics on every field in connection with physical, physiologic, pharmacological, biochemical and molecular biological aspects of ophthalmology. This journal also aims to provide a record of international clinical research for both researchers and clinicians in ophthalmology. Finally, the transfer of information from fundamental research to clinical research and clinical practice is particularly welcome.
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