Phillips Consulting, Chapel Hill, NC, USA.
Paradigm Biopharmaceuticals Limited, Melbourne, VIC, Australia.
Orphanet J Rare Dis. 2021 Dec 2;16(1):500. doi: 10.1186/s13023-021-02113-8.
Research about pediatric patients' perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function and day-to-day life of pediatric patients with MPS VI, and to consider clinical outcome assessments (COAs) that may potentially measure meaningful improvements in these concepts.
Potential focus group participants were identified by the National MPS Society (USA) and invited to participate if they self-reported a clinician-provided diagnosis of MPS VI and were 4 to 18 years, receiving enzyme replacement therapy (ERT), and available to attend a 1-day focus group with their caregiver in Dallas, TX, USA. The focus group consisted of a series of polling and open-ended concept elicitation questions and a cognitive debriefing session. The discussion was audio recorded, transcribed verbatim, and analyzed to identify disease concepts of interest and functional impacts most relevant to participants.
Overall, caregivers (n = 9) and patients with MPS VI (n = 9) endorsed that although their children/they receive ERT, residual symptoms exist and impact health-related quality of life. The key disease concepts of interest identified were impaired mobility, upper extremity and fine motor deficits, pain, and fatigue. Pain was unanimously reported by all patients across many areas of the body and impacted daily activity. Key disease concepts were mapped to a selection of pediatric COAs including generic measures such as PROMIS®, PODCI, CHAQ, and PedsQL™. Caregivers endorsed the relevance of PODCI and PROMIS Upper Extremity, Mobility, and Pain items and all patients completed the NIH Toolbox Pegboard Dexterity Test. Additional COAs that aligned with the disease concepts included range of motion, the 2- and 6-min walk tests, timed stair climbs, Bruininks-Oseretsky Test of Motor Proficiency, 2nd edition, grip strength, pain visual analog scale, and the Faces Pain Scale-Revised.
An MPS VI focus group of pediatric patients and their caregivers identified impaired mobility, upper extremity and fine motor deficits, pain, and fatigue as key disease concepts of interest. These disease concepts were mapped to existing pediatric COAs, which were provided to the group for endorsement of their relevance.
关于黏多糖贮积症 VI 型（MPS VI）患儿观点及其对日常生活影响的研究有限。我们旨在确定对 MPS VI 患儿功能和日常生活影响最大的疾病相关概念，并考虑可能对这些概念的改善有意义的潜在临床结局评估（COA）。
美国国家黏多糖贮积症协会（National MPS Society，USA）确定了潜在的焦点小组参与者，如果他们自我报告了 MPS VI 的临床诊断，正在接受酶替代疗法（ERT），年龄在 4 至 18 岁之间，并且可以与照顾者一起参加在美国德克萨斯州达拉斯市举行的为期 1 天的焦点小组，则被邀请参加。焦点小组由一系列投票和开放式概念启发问题以及认知审查会议组成。讨论内容被录音、逐字记录并进行分析，以确定最相关的关注疾病概念和功能影响。
总体而言，照顾者（n=9）和 MPS VI 患儿（n=9）都表示，尽管他们的孩子/他们接受了 ERT，但仍存在残留症状并影响了健康相关生活质量。确定的关键关注疾病概念包括行动不便、上肢和精细运动缺陷、疼痛和疲劳。所有患者都报告了身体许多部位的疼痛，并且疼痛影响了日常活动。关键疾病概念被映射到一系列儿科 COA 上，包括通用措施，如 PROMIS®、PODCI、CHAQ 和 PedsQL™。照顾者认可了 PODCI 和 PROMIS 上肢、移动性和疼痛项目的相关性，所有患者都完成了 NIH 工具包钉板灵巧测试。与疾病概念一致的其他 COA 包括活动范围、2 分钟和 6 分钟步行测试、计时爬楼梯、布鲁因克斯-奥塞雷茨基运动技能测试第 2 版、握力、疼痛视觉模拟量表和修订后的面部疼痛量表。
MPS VI 儿科患者及其照顾者的焦点小组确定了行动不便、上肢和精细运动缺陷、疼痛和疲劳是主要关注的疾病概念。这些疾病概念被映射到现有的儿科 COA 上，这些 COA 也提供给了小组，以确定其相关性。
