Bubbear Judith, Lachmann Robin, Murphy Elaine, Krishna Gauri, Clunie Gavin P R, Walsh Jennifer, Schini Marian, Salam Syazrah, Roy Matthew, Finezilber Yael, Mathieson Leigh, Hayes Victoria, Johnson Ben, Logan Gillian, Stevens Daniel, Davda Rakesh, Nixon Mark, Bowden Annabel, Barham Helen, Keen Richard
Royal National Orthopaedic Hospital, Stanmore, UK.
University College London Hospitals NHS Foundation Trust, London, UK.
Calcif Tissue Int. 2025 Sep 18;116(1):122. doi: 10.1007/s00223-025-01433-2.
X-linked hypophosphataemia (XLH) is a genetic phosphate-wasting disorder caused by excess fibroblast growth factor 23 (FGF23), which leads to skeletal morbidities, pain, stiffness, and impairments in physical function and health-related quality of life. Burosumab inhibits excess circulating FGF23, restoring bone biochemistry. Here we report real-world data from adults with debilitating XLH symptoms who started treatment with burosumab through a UK early access programme. Change from baseline was assessed for bone biochemistry and patient-reported outcomes (PROs) collected from patients' medical records from September 2019 to December 2022. The proportion of patients (n = 136; 66% female, median age 44.0 years [range 18-83]) with normal serum phosphate increased from 5% (6/126) at baseline to 63% (52/82) after 6 months' burosumab treatment; mean serum phosphate increased significantly from baseline. Significant improvements from baseline were observed in Brief Pain Inventory short-form Worst Pain, Pain Severity and Pain Interference scores (mean [SD] improvement at 6 months: 1.8 [2.3], 1.6 [2.1] and 1.9 [2.2] points, respectively). Western Ontario and McMaster Universities Arthritis Index Stiffness, Pain, Physical Function and total scores improved significantly at 6 months (15.9 [29.7], 11.4 [24.3], 15.7 [19.7] and 15.4 [18.3], respectively), as did EuroQol five-dimension five-level (EQ-5D-5L) utility and visual analogue scale (VAS) scores (0.16 [0.22] and 17.0 [21.6]). Most improvements were clinically meaningful (where benchmarks exist). This study demonstrates the effectiveness of burosumab in real-world practice, supporting findings from clinical trials, and provides new evidence that burosumab treatment substantially improves EQ-5D-5L utility and VAS scores in adults with XLH.
X连锁低磷血症（XLH）是一种遗传性磷酸盐消耗性疾病，由成纤维细胞生长因子23（FGF23）过量引起，可导致骨骼疾病、疼痛、僵硬以及身体功能和健康相关生活质量受损。布罗索尤单抗可抑制循环中过量的FGF23，恢复骨生物化学指标。在此，我们报告了通过英国早期获取计划开始使用布罗索尤单抗治疗的、有严重XLH症状的成人患者的真实世界数据。对2019年9月至2022年12月从患者病历中收集的骨生物化学指标和患者报告结局（PROs）进行了基线变化评估。血清磷酸盐水平正常的患者比例（n = 136；66%为女性，中位年龄44.0岁[范围18 - 83岁]）从基线时的5%（6/126）增加到布罗索尤单抗治疗6个月后的63%（52/82）；平均血清磷酸盐水平较基线显著升高。简明疼痛问卷简表中最严重疼痛、疼痛强度和疼痛干扰评分较基线有显著改善（6个月时平均[标准差]改善分别为：1.8[2.3]、1.6[2.1]和1.9[2.2]分）。6个月时，西安大略和麦克马斯特大学骨关节炎指数的僵硬、疼痛、身体功能和总分均有显著改善（分别为15.9[29.7]、11.4[24.3]、15.7[19.7]和15.4[18.3]），欧洲五维度五水平健康量表（EQ - 5D - 5L）效用值和视觉模拟量表（VAS）评分也有改善（分别为0.16[0.22]和17.0[21.6]）。大多数改善具有临床意义（有基准数据的情况下）。本研究证明了布罗索尤单抗在真实世界实践中的有效性，支持了临床试验的结果，并提供了新的证据，表明布罗索尤单抗治疗可显著改善XLH成人患者的EQ - 5D - 5L效用值和VAS评分。
