Department of Pediatrics, Faculty of Life Science, Kumamoto University, 860-0862, Kumamoto, Japan.
Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine, 565-0871, Osaka, Japan.
Orphanet J Rare Dis. 2024 Mar 7;19(1):104. doi: 10.1186/s13023-024-03112-1.
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.
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.
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.
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.
黏多糖贮积症 II 型（MPS II），又称亨特综合征，是一种罕见的 X 连锁代谢疾病，主要影响男性。帕比那福沙（pabinafusp alfa）是一种设计用于穿越血脑屏障的艾杜糖-2-硫酸酯酶，于 2021 年在日本获批，用于治疗 MPS II 的神经病变和躯体症状，是首个针对 MPS II 的酶替代疗法。本研究通过定性访谈报告了接受 pabinafusp alfa 治疗的 MPS II 患者的护理人员的经验。
在日本的七个临床中心，使用半结构化访谈和半结构化的主持人指南（护理人员声音指南）对护理人员进行了半结构化定性访谈。采用主题分析对访谈记录进行分析，以确定基线时的症状和健康相关生活质量影响、治疗期间的变化以及总体治疗经验。
来自 16 个试验地点的 7 位护理人员参与了研究，代表了 7 名年龄在 8-18 岁之间的儿童，他们在接受访谈时已经接受了 pabinafusp alfa 治疗 3.3-3.5 年。数据表明，在多个方面普遍存在改善趋势，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、注意力、自我控制、眼神接触、思维清晰度、概念理解、听从指令和表达个人需求。还报告了其他方面的变化，包括肌肉骨骼改善以及运动功能、移动性、器官受累、关节活动度、睡眠模式和疲劳等躯体变化。4 位护理人员报告家庭生活质量改善，5 位表示治疗满意，所有 7 位都表示强烈愿意继续为其孩子使用 pabinafusp alfa 治疗。
本研究中护理人员的观点表明，接受 pabinafusp alfa 治疗后，生活质量的各个方面都得到了改善，并提高了治疗满意度。这些发现增强了对 pabinafusp alfa 治疗 MPS II 的潜在益处的理解，并有助于确定未来临床试验中针对 MPS II 的特定结局指标。
