Banerjee Geetanjoli, Perera Sue, Mu Fan, Cook Erin, Cheng Mu, Zhang Adina, Lan Jessie Jie, Zou Lin, Sikirica Vanja
Moderna Therapeutics, Inc., 325 Binney St, Cambridge, Massachusetts, 02142, USA.
Analysis Group, Inc., 111 Huntington Avenue, 14th floor, Boston, Massachusetts, 02199-7668, USA.
Orphanet J Rare Dis. 2025 Jul 15;20(1):362. doi: 10.1186/s13023-025-03901-2.
Patients with propionic acidemia (PA) may face recurrent metabolic decompensation events (MDEs) and multisystemic complications. This study compared characteristics and clinical outcomes of patients with PA and matched non-PA controls by age stratum.
Patients with PA from the US IQVIA PharMetrics Plus claims database (10/2015‒6/2022) had their follow-up time partitioned into age strata (0‒2, 3‒6, 7‒12, 13‒17, ≥ 18 years) and were matched 1:1 to randomly selected non-PA controls within each stratum. MDEs were identified as hospitalizations with claims for hyperammonemia and/or metabolic acidosis. Hospitalizations with claims for PA signs and symptoms were evaluated.
Among 191 patients with PA and 230 matched non-PA controls (median follow-up: 2.7 years), patients with PA had more comorbidities (neurologic/nervous system, cytopenias, growth, metabolism, cardiac system; listed in order of frequency) across all age strata. The overall MDE rate for patients with PA was 0.5 per patient-year (PPY) while hospitalizations with various PA signs and symptoms ranged from 0.3 to 0.6 PPY. MDE rates were highest in those aged 3‒6 years (1.4 PPY), lowest in the 13‒17 years stratum (0.1 PPY), and rose again in adults (0.2 PPY). Patients with MDEs (31.4%) had a significantly higher burden of PA-related symptoms and comorbidities than those without; both groups showed even greater differences when compared to controls.
Patients with PA across all age strata, with and without MDEs, experience a substantial burden of disease-related comorbidities, complications, and healthcare visits compared with matched non-PA controls, which highlights the need for improved clinical outcomes in these patients.
丙酸血症（PA）患者可能面临反复的代谢失代偿事件（MDEs）和多系统并发症。本研究按年龄层比较了PA患者与匹配的非PA对照的特征和临床结局。
来自美国IQVIA PharMetrics Plus索赔数据库（2015年10月至2022年6月）的PA患者的随访时间被划分为不同年龄层（0至2岁、3至6岁、7至12岁、13至17岁、≥18岁），并在每个年龄层内按1:1比例与随机选择的非PA对照进行匹配。MDEs被确定为伴有高氨血症和/或代谢性酸中毒索赔的住院治疗。对伴有PA体征和症状索赔的住院治疗进行了评估。
在191例PA患者和230例匹配的非PA对照中（中位随访时间：2.7年），PA患者在所有年龄层中都有更多的合并症（神经系统、血细胞减少、生长发育、代谢、心血管系统；按频率顺序列出）。PA患者的总体MDE发生率为每人年0.5次（PPY），而伴有各种PA体征和症状的住院率为0.3至0.6 PPY。MDE发生率在3至6岁年龄组最高（1.4 PPY），在13至17岁年龄层最低（0.1 PPY），在成年人中又有所上升（0.2 PPY）。发生MDEs的患者（31.4%）比未发生者有明显更高的PA相关症状和合并症负担；与对照组相比，两组之间的差异更大。
与匹配的非PA对照相比，所有年龄层的PA患者，无论有无MDEs，都经历了与疾病相关的合并症、并发症和医疗就诊的沉重负担，这突出表明需要改善这些患者的临床结局。
