背景:II型粘多糖贮积症(MPSII),或者亨特综合症,是一种罕见的X连锁代谢紊乱,主要影响男性。Pabinafuspalfa,一种设计用来穿过血脑屏障的艾杜糖醛酸-2-硫酸酯酶,2021年在日本被批准为第一个针对MPSII的神经病和躯体体征和症状的酶替代疗法。本研究通过定性访谈报告了接受pabinafuspalfa的MPSII患者的护理人员经验。
方法:半结构化,我们使用半结构化审核指南(看护者之声指南)对日本7个临床中心的护理人员进行了定性访谈.将主题分析应用于访谈笔录,以确定基线时的症状和与健康相关的生活质量影响,治疗期间的变化,整体治疗经验。
结果:来自16个试验中心的7名护理人员参与,代表7名8-18岁的儿童,他们在采访时接受了3.3-3.5年的pabinafuspalfa。数据表明,在多个方面有改善的总体趋势,尽管并非所有护理人员都观察到明显的变化。报告的认知改善包括语言技能,浓度,自我控制,眼神接触,精神清晰度,概念理解,以下说明,表达个人需求。据报道,进一步的变化包括肌肉骨骼改善和运动功能等躯体变化,移动性,器官受累,联合机动性,睡眠模式,和疲劳。四名护理人员报告家庭生活质量有所改善,五人表示治疗满意,所有七个人都表示强烈愿意继续用pabinafuspalfa治疗他们的孩子。
结论:本研究中的照顾者的观点表明,在使用pabinafuspalfa治疗后,治疗满意度和生活质量的各个方面都得到了改善。这些发现增强了对pabinafuspalfa治疗MPSII的潜在益处的理解,并有助于为未来的临床试验确定MPSII特异性结局指标。
BACKGROUND: Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-brain barrier, was approved in Japan in 2021 as the first enzyme replacement therapy targeting both the neuropathic and somatic signs and symptoms of MPS II. This study reports caregivers\' experiences of MPS II patients receiving pabinafusp alfa through qualitative interviews.
METHODS: Semi-structured, qualitative interviews were conducted with caregivers at seven clinical sites in Japan using a semi-structured moderation guide (Voice of the Caregiver guide). Thematic analysis was applied to the interview transcripts to identify symptoms and health-related quality of life impacts at baseline, changes during treatment, and overall treatment experience.
RESULTS: Seven caregivers from 16 trial sites participated, representing seven children aged 8-18 years who had received pabinafusp alfa for 3.3-3.5 years at the time of the interviews. Data suggest a general trend toward improvement in multiple aspects, although not all caregivers observed discernible changes. Reported cognitive improvements included language skills, concentration, self-control, eye contact, mental clarity, concept understanding, following instructions, and expressing personal needs. Further changes were reported that included musculoskeletal improvements and such somatic changes as motor function, mobility, organ involvement, joint mobility, sleep patterns, and fatigue. Four caregivers reported improvements in family quality of life, five expressed treatment satisfaction, and all seven indicated a strong willingness to continue treatment of their children with pabinafusp alfa.
CONCLUSIONS: Caregivers\' perspectives in this study demonstrate treatment satisfaction and improvement in various aspects of quality of life following therapy with pabinafusp alfa. These findings enhance understanding of pabinafusp alfa\'s potential benefits in treating MPS II and contribute to defining MPS II-specific outcome measures for future clinical trials.