Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Institute of Laboratory Medicine, Municipal Hospital Triemli, Zürich, Switzerland.
JAMA Dermatol. 2020 May 1;156(5):570-575. doi: 10.1001/jamadermatol.2020.0352.
The effectiveness of afamelanotide treatment in patients with erythropoietic protoporphyria (EPP) in clinical practice who experience pain after light exposure that substantially impairs quality of life is unknown.
To evaluate the association of afamelanotide treatment with outcomes in patients with EPP in regular practice during longer-term follow-up.
DESIGN, SETTING, AND PARTICIPANTS: This single-center, prospective postauthorization safety and efficacy cohort study was directed and approved by the European Medicines Agency. Data were collected from patients with EPP treated with afamelanotide at Erasmus MC between June 2016 and September 2018. Analysis began October 2018.
Time spent outside during treatment, number of phototoxic reactions, disease-specific quality of life, usage of protective clothing, and adverse events.
A total of 117 patients with EPP (59 women [50.4%]; mean [SD] age, 43.0 [15.5] years) were treated with afamelanotide. Nearly all patients continued treatment (115 [98%]) with a median (interquartile range) follow-up of 2.0 (1.3-2.1) years. Compared with baseline, mean time spent outside during treatment increased significantly by an added 6.1 hours per week (95% CI, 3.62-8.67; P < .001). Mean quality of life score improved significantly by 14.01% (95% CI, 4.53%-23.50%; P < .001). Phototoxic reactions were less painful (β, -0.85; 95% CI, -1.43 to -0.26; P < .001), but there was no significant difference in number or duration of reactions. Minor self-limiting adverse events occurred, such as nausea, fatigue, and headache.
This cohort study found that afamelanotide treatment was associated with improved clinical outcomes and a good safety profile for patients with EPP. The treatment has clinically significant, sustained positive associations with quality of life, is associated with increased duration of sun exposure, and is associated with less severe phototoxic reactions.
在临床实践中，患有红细胞生成性原卟啉症（EPP）的患者在暴露于光线后会出现疼痛，这会极大地影响生活质量，但目前尚不清楚阿法美拉顿治疗的有效性。
评估阿法美拉顿治疗在 EPP 患者的长期随访中的效果。
设计、地点和参与者：这是一项由欧洲药品管理局指导和批准的单中心、前瞻性上市后安全性和疗效队列研究。数据来自 2016 年 6 月至 2018 年 9 月在伊拉斯谟医学中心接受阿法美拉顿治疗的 EPP 患者。分析于 2018 年 10 月开始。
治疗期间的户外活动时间、光毒性反应次数、疾病特异性生活质量、防护服的使用和不良事件。
共 117 名 EPP 患者（59 名女性[50.4%]；平均[标准差]年龄 43.0[15.5]岁）接受了阿法美拉顿治疗。几乎所有患者（115[98%]）都继续接受治疗，中位（四分位间距）随访时间为 2.0（1.3-2.1）年。与基线相比，治疗期间的户外活动时间每周显著增加了 6.1 小时（95%置信区间，3.62-8.67；P < .001）。生活质量评分显著提高了 14.01%（95%置信区间，4.53%-23.50%；P < .001）。光毒性反应的疼痛程度明显减轻（β，-0.85；95%置信区间，-1.43 至-0.26；P < .001），但反应的次数和持续时间没有显著差异。发生了轻微的自限性不良事件，如恶心、疲劳和头痛。
这项队列研究发现，阿法美拉顿治疗与 EPP 患者的临床结局改善和良好的安全性相关。该治疗与生活质量的持续显著改善相关，与增加的日晒时间相关，且与较轻的光毒性反应相关。
