Duke University, 905 Lasalle Street, GSRB1, Room 4010, Durham, NC, 27710, USA.
Amicus Therapeutics UK LTD, One Globeside, Fieldhouse Ln, Marlow, SL7 1HZ, UK.
J Patient Rep Outcomes. 2024 Jan 31;8(1):13. doi: 10.1186/s41687-024-00686-z.
The construct validity and interpretation of the Patient-Reported Outcome Measurement Information System (PROMIS) Physical Function short form 20a (PF20a) questionnaire were evaluated for patients with late-onset Pompe disease (LOPD), a rare, autosomal recessive, progressive neuromuscular disorder treatable by enzyme replacement therapy (ERT).
In the phase 3 PROPEL study, adults with LOPD underwent testing of physical functioning and had PRO measurements at baseline and at weeks 12, 26, 38, and 52 while receiving experimental or standard-of-care ERT. All patients were pooled for analyses, without comparisons between treatment groups. Associations and correlations between PROMIS PF20a scores and the 6-minute walk distance (6MWD), % predicted forced vital capacity (FVC), manual muscle test (MMT) of the lower extremities, Gait, Stairs, Gowers' maneuver, Chair (GSGC) score, and Rasch-built Pompe-specific Activity (R-PAct) scale were evaluated by calculating regression coefficients in linear regression models and Pearson correlation coefficients (R); patients' age, sex, race, ERT prior to study, body mass index, and study treatment were included as covariables. The minimal clinically important difference (MCID) of PROMIS PF20a was determined using distribution- and anchor-based methods.
123 patients received at least 1 dose of ERT. In multivariable analyses, PROMIS PF20a scores had strong correlations with R-PAct scores (R = 0.83 at baseline and R = 0.67 when evaluating changes between baseline and 52 weeks) and moderate correlations with the 6MWD (R = 0.57 at baseline and R = 0.48 when evaluating changes between baseline and 52 weeks). Moderate correlations were also observed between PROMIS PF20a and MMT (R = 0.54), GSGC (R=-0.51), and FVC (R = 0.48) at baseline. In multivariable linear regression models, associations were significant between PROMIS PF20a and 6MWD (P = 0.0006), MMT (P = 0.0034), GSGC (P = 0.0278), and R-PAct (P < 0.0001) at baseline, between PROMIS PF20a and 6MWD (P < 0.0001), FVC (P = 0.0490), and R-PAct (P < 0.0001) when combining all measurements, and between PF20a and 6MWD (P = 0.0016) and R-PAct (P = 0.0001) when evaluating changes in scores between baseline and 52 weeks. The anchor-based and distribution-based MCID for a clinically important improvement for PROMIS PF20a were 2.4 and 4.2, respectively.
PROMIS PF20a has validity as an instrument both to measure and to longitudinally follow physical function in patients with LOPD.
ClinicalTrials.gov, NCT03729362. Registered 2 November 2018, https://www.
gov/search?term=NCT03729362 .
对迟发性庞贝病（LOPD）患者进行了患者报告结局测量信息系统（PROMIS）物理功能简短表 20a（PF20a）问卷的构建效度和解释评估，LOPD 是一种罕见的常染色体隐性进行性神经肌肉疾病，可通过酶替代疗法（ERT）治疗。
在 3 期 PROPEL 研究中，LOPD 成人接受了身体功能测试，并在接受实验性或标准护理 ERT 的同时，在基线和第 12、26、38 和 52 周进行了 PRO 测量。所有患者均进行了汇总分析，不进行治疗组之间的比较。在多变量线性回归模型中，通过计算回归系数和 Pearson 相关系数（R）评估了 PROMIS PF20a 评分与 6 分钟步行距离（6MWD）、预计用力肺活量（FVC）的百分比、下肢的手动肌肉测试（MMT）、步态、楼梯、戈尔斯手法、椅子（GSGC）评分和 Rasch 构建的庞贝特有的活动（R-PAct）量表之间的相关性；患者的年龄、性别、种族、研究前的 ERT、体重指数和研究治疗作为协变量。使用分布和锚定方法确定 PROMIS PF20a 的最小临床重要差异（MCID）。
123 名患者至少接受了 1 剂 ERT。在多变量分析中，PROMIS PF20a 评分与 R-PAct 评分具有很强的相关性（基线时 R=0.83，评估 52 周时从基线到 52 周的变化时 R=0.67），与 6MWD 呈中度相关性（基线时 R=0.57，评估 52 周时从基线到 52 周的变化时 R=0.48）。基线时，PROMIS PF20a 还与 MMT（R=0.54）、GSGC（R=-0.51）和 FVC（R=0.48）中度相关。在多变量线性回归模型中，PROMIS PF20a 与 6MWD（P=0.0006）、MMT（P=0.0034）、GSGC（P=0.0278）和 R-PAct（P<0.0001）之间存在显著关联在基线时，PROMIS PF20a 与 6MWD（P<0.0001）、FVC（P=0.0490）和 R-PAct（P<0.0001）在所有测量时之间存在关联，以及在基线和 52 周之间评分变化时与 6MWD（P=0.0016）和 R-PAct（P=0.0001）之间存在关联。基于锚定和基于分布的 PROMIS PF20a 临床重要改善的 MCID 分别为 2.4 和 4.2。
PROMIS PF20a 具有有效性，可用于测量和纵向随访 LOPD 患者的身体功能。
ClinicalTrials.gov，NCT03729362。2018 年 11 月 2 日注册，https://www.clinicaltrials.gov/search?term=NCT03729362。
