Cross Nancy, van Steen Cécile, Zegaoui Yasmina, Satherley Andrew, Angelillo Luigi
Market Access, Lightning Health, London, England, UK.
Market Access HTA & HEOR, EMEA, Santen GmbH, Munich, Bavaria, Germany.
Clin Ophthalmol. 2022 Jun 20;16:1993-2010. doi: 10.2147/OPTH.S365486. eCollection 2022.
Retinitis Pigmentosa (RP), a group of inherited retinal dystrophies characterised by progressive vision loss, is the leading cause of visual disability and blindness in subjects less than 60 years old. Currently incurable, therapy is aimed at restricting degeneration of vision, treating complications, and helping patients to cope with the psychosocial impact of their disease. Hence, RP is associated with a high burden of disease. This paper describes the current therapeutic landscape for RP and the disease burden for patients, caregivers, and society. A review of available data was conducted in three stages: (1) a literature search of publicly available information on all domains of RP; (2) a systematic literature review using Medline, Embase, the Cochrane Library and grey literature (GlobalData) on epidemiology and cost of RP; and (3) qualitative research with senior physicians treating RP patients in the EU4 and the UK to validate research findings from secondary sources. RP severely impacts the daily lives of over a million people worldwide. Progressive vision loss significantly affects the ability to perform basic daily tasks, to maintain employment, and maintain independence. Consequently, most patients will experience reduced quality of life, with a greater emotional and psychological impact than other conditions related to vision loss such as diabetic retinopathy or age-related macular degeneration. RP is also associated with a high level of carer burden, arising from psychological and financial stress. The therapeutic landscape for RP is limited, with few treatment options and minimal guidance for the diagnosis, treatment, and care of patients. A curative intervention, voretigene neparvovec (Luxturna), only exists for 1-6% of patients. Although disease management can be successful in developing coping strategies, most patients live with this chronic, progressive condition without interventions to change the disease course. Innovative new therapies can transform the therapeutic landscape, provided appropriate clinical guidance is forthcoming.
视网膜色素变性（RP）是一组以进行性视力丧失为特征的遗传性视网膜营养不良，是60岁以下人群视力残疾和失明的主要原因。目前无法治愈，治疗旨在限制视力退化、治疗并发症，并帮助患者应对疾病的心理社会影响。因此，RP与高疾病负担相关。本文描述了RP目前的治疗情况以及患者、护理人员和社会的疾病负担。对现有数据进行了三个阶段的审查：（1）对RP所有领域的公开可用信息进行文献检索；（2）使用Medline、Embase、Cochrane图书馆和灰色文献（GlobalData）对RP的流行病学和成本进行系统文献综述；（3）对欧盟4国和英国治疗RP患者的资深医生进行定性研究，以验证二手资料的研究结果。RP严重影响全球超过100万人的日常生活。进行性视力丧失显著影响执行基本日常任务、维持就业和保持独立的能力。因此，大多数患者的生活质量会下降，与糖尿病视网膜病变或年龄相关性黄斑变性等其他视力丧失相关疾病相比，其情感和心理影响更大。RP还与高水平的护理负担相关，这是由心理和经济压力引起的。RP的治疗选择有限，治疗方案少，对患者的诊断、治疗和护理指导也很少。一种治愈性干预药物——voretigene neparvovec（Luxturna）仅适用于1%至6%的患者。尽管疾病管理在制定应对策略方面可能会取得成功，但大多数患者在没有干预措施改变疾病进程的情况下，仍患有这种慢性进行性疾病。如果能有适当的临床指导，创新的新疗法可以改变治疗格局。
