1型原发性高氧化尿症 (PH1) 患者的治疗偏好:一项现实研究
David S Goldfarb1, Jing Voon Chen2,3, Rebekah Zincavage4
1Division of Nephrology, NYU Langone Health and NYU Grossman School of Medicine, New York, NY, USA. david.goldfarb@nyulangone.org.
Orphanet journal of rare diseases
|May 14, 2025
概括
患有1型原发性高氧化尿症 (PH1) 的患者更喜欢方便的治疗方法. 在家自给药,固定的剂量和较少的注射被高度评价为管理PH1.
科学领域:
- 罕见的遗传疾病 罕见的遗传疾病
- 腎臟病學 (nephrology) 是一種醫學專業.
- 代谢性疾病是一种代谢性疾病.
背景情况:
- 初级高氧化尿1型 (PH1) 是一种罕见的遗传疾病,其特征是过度的氧化酸盐生产,导致脏和器官损伤.
- 尼多西兰是美国用于治疗PH1的药物,适用于9岁及以上的患者,其eGFR至少为30mL/min/1.73m2.
- 尼多西兰可以在家中自行或照顾者使用,为12岁及以上的患者提供固定的剂量.
研究的目的:
- 在现实环境中了解PH1成年人的治疗偏好.
- 确定与PH1.1目前的治疗管理方法相关的挑战.
- 为开发更以患者为中心的PH1疗法提供信息.
主要方法:
- 在美国的成年人 (≥18岁) 中进行了基于网络的横截面调查,诊断出PH1.
- 该调查包括一个20-25分钟的问卷.
- 数据收集时间为2023年10月至12月.
主要成果:
- 参与者 (N=39) 强烈倾向于在家进行自我注射,72%的人倾向于自行注射而不是由医疗保健提供者 (HCP) 进行注射.
- 方便因素,如施用频率,所需时间和施用地点是非常重要的.
- 大多数人更喜欢不基于体重的剂量 (64%),并且发现季度注射 (56%) 很容易或很容易,但67%的人更喜欢在家里每月注射,而不是在医疗机构每季度注射.
结论:
- 患有PH1的患者优先考虑治疗方便性和生活方式兼容性.
- 自治,家庭治疗和可预测的剂量方案是PH1患者的关键偏好.
- 这些发现强调了在开发和提供PH1疗法时需要以患者为中心的方法.
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