Goldfarb David S, Chen Jing Voon, Zincavage Rebekah, Padilla Brad, Sussman Matthew, Salem Sandra, Modersitzki Frank
Division of Nephrology, NYU Langone Health and NYU Grossman School of Medicine, New York, NY, USA.
Genesis Research Group, Hoboken, NJ, USA.
Orphanet J Rare Dis. 2025 May 14;20(1):228. doi: 10.1186/s13023-025-03738-9.
Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder causing excessive oxalate production, damaging kidneys and other organs. Nedosiran, launched in the U.S. for individuals with PH1 (≥ 9 years of age; estimated glomerular filtration rate [eGFR] ≥ 30 mL/min/1.73 m), can be self- or caregiver-administered at home with fixed-dosing for patients ≥ 12 years of age. This real-world study aimed to understand treatment preferences among individuals with PH1, highlighting challenges in administration of current treatments.
A cross-sectional web-based survey was conducted among U.S.-based adults (aged ≥ 18) diagnosed with PH1. The survey consisted of a 20-25 min questionnaire and was conducted from October to December 2023.
The study participants (N = 39) included both male (N = 26) and female (N = 13) adults with PH1. Participants came from a range of community settings, including urban (46%), rural (39%), and suburban (15%); and were full- or part-time workers (56%) or students (41%). Most participants were on lumasiran therapy (95%) for an average of 1 year (range: 0.3-1.8 years). The survey revealed that the commonly reported factors important for treatment selection among participants living with PH1 were frequency of administration, treatment administrator, time required for treatment, and place of administration. The ability to self-administer was ranked as the top choice by most participants. Over half (56%) found quarterly injections easy or very easy. Similarly, 56-59% found home administration, whether self- or healthcare provider (HCP)-administered, easy or very easy. Nearly half (46%) considered injections at medical facilities challenging or very challenging. The majority indicated traveling > 15 min for injections would be burdensome (57%) and arranging appointments problematic (54%). When comparing administration methods, 72% preferred self-injection over HCP-administered injections. Regarding treatment regimens, 57% found it easy or very easy to receive monthly injections initially, before switching to quarterly. Additionally, 64% preferred a medication dosage that is not weight-based. While participants expressed a preference for less frequent treatments, 67% preferred self-injection at home over medical facility injections, and 67% preferred monthly injections at home over quarterly injections at a medical facility.
This study shows that patients with PH1 value treatments that are convenient and fit their lifestyle.
1型原发性高草酸尿症（PH1）是一种罕见的遗传性疾病，会导致草酸盐过度生成，损害肾脏和其他器官。在美国，Nedosiran已获批用于≥9岁、估计肾小球滤过率（eGFR）≥30 mL/min/1.73 m²的PH1患者，12岁及以上患者可由患者自行或在护理人员协助下在家中进行固定剂量给药。这项真实世界研究旨在了解PH1患者的治疗偏好，突出当前治疗在给药方面的挑战。
对美国确诊为PH1的≥18岁成年人开展了一项基于网络的横断面调查。该调查包括一份20 - 25分钟的问卷，于2023年10月至12月进行。
研究参与者（N = 39）包括患有PH1的成年男性（N = 26）和成年女性（N = 13）。参与者来自不同的社区环境，包括城市（46%）、农村（39%）和郊区（15%）；职业为全职或兼职工作者（56%）或学生（41%）。大多数参与者接受鲁马西酶治疗（95%），平均治疗时间为1年（范围：0.3 - 1.8年）。调查显示，对于PH1患者而言，在选择治疗时普遍认为重要的因素包括给药频率、治疗执行者、治疗所需时间和给药地点。自我给药能力被大多数参与者列为首选。超过一半（56%）的人认为每季度注射容易或非常容易。同样，56 - 59%的人认为无论是自我给药还是由医疗服务提供者（HCP）在家中给药都容易或非常容易。近一半（46%）的人认为在医疗机构注射具有挑战性或非常具有挑战性。大多数人表示注射行程超过15分钟会很麻烦（57%），安排预约也有问题（54%）。在比较给药方式时，72%的人更喜欢自我注射而非HCP注射。关于治疗方案，57%的人认为最初每月注射，然后改为每季度注射很容易或非常容易。此外，64%的人更喜欢非基于体重的药物剂量。虽然参与者表示倾向于给药频率较低的治疗，但67%的人更喜欢在家中自我注射而非在医疗机构注射，67%的人更喜欢在家中每月注射而非在医疗机构每季度注射。
本研究表明，PH1患者重视方便且适合其生活方式的治疗。
