Department of Gastroenterology, Hepatology and Transplant Medicine, University Hospital Essen, University of Duisburg-Essen (formerly of University Hospital Munster, Munster, Germany), Essen, Germany.
Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
Am J Transplant. 2022 Jun;22(6):1646-1657. doi: 10.1111/ajt.17009. Epub 2022 Mar 26.
Hereditary transthyretin-mediated (hATTR) amyloidosis, or ATTRv amyloidosis, is a progressive disease, for which liver transplantation (LT) has been a long-standing treatment. However, disease progression continues post-LT. This Phase 3b, open-label trial evaluated efficacy and safety of patisiran in patients with ATTRv amyloidosis with polyneuropathy progression post-LT. Primary endpoint was median transthyretin (TTR) reduction from baseline. Twenty-three patients received patisiran for 12 months alongside immunosuppression regimens. Patisiran elicited a rapid, sustained TTR reduction (median reduction [Months 6 and 12 average], 91.0%; 95% CI: 86.1%-92.3%); improved neuropathy, quality of life, and autonomic symptoms from baseline to Month 12 (mean change [SEM], Neuropathy Impairment Score, -3.7 [2.7]; Norfolk Quality of Life-Diabetic Neuropathy questionnaire, -6.5 [4.9]; least-squares mean [SEM], Composite Autonomic Symptom Score-31, -5.0 [2.6]); and stabilized disability (Rasch-built Overall Disability Scale) and nutritional status (modified body mass index). Adverse events were mild or moderate; five patients experienced ≥1 serious adverse event. Most patients had normal liver function tests. One patient experienced transplant rejection consistent with inadequate immunosuppression, remained on patisiran, and completed the study. In conclusion, patisiran reduced serum TTR, was well tolerated, and improved or stabilized key disease impairment measures in patients with ATTRv amyloidosis with polyneuropathy progression post-LT (www.clinicaltrials.gov NCT03862807).
遗传性转甲状腺素蛋白介导的(hATTR)淀粉样变,或 ATTRv 淀粉样变,是一种进行性疾病,肝移植(LT)一直是其长期治疗方法。然而,疾病在 LT 后仍会继续进展。这项 3b 期、开放标签试验评估了 patisiran 在 LT 后多发性神经病进展的 ATTRv 淀粉样变患者中的疗效和安全性。主要终点是从基线开始的转甲状腺素蛋白(TTR)降低中位数。23 名患者在免疫抑制方案的基础上接受了 patisiran 治疗 12 个月。patisiran 迅速、持续地降低了 TTR(第 6 和 12 个月的中位数降低率,91.0%;95%CI:86.1%-92.3%);与基线相比,改善了神经病、生活质量和自主症状(平均变化 [SEM],神经病损伤评分,-3.7 [2.7];诺福克生活质量-糖尿病神经病问卷,-6.5 [4.9];最小二乘均值 [SEM],综合自主症状评分-31,-5.0 [2.6]),稳定了残疾(Rasch 构建的总体残疾量表)和营养状况(改良的体重指数)。不良事件为轻度或中度;五名患者经历了≥1 次严重不良事件。大多数患者的肝功能检查正常。一名患者发生了与免疫抑制不足一致的移植排斥反应,继续接受 patisiran 治疗,并完成了研究。总之,patisiran 降低了血清 TTR,具有良好的耐受性,并改善或稳定了 LT 后多发性神经病进展的 ATTRv 淀粉样变患者的关键疾病损害指标(www.clinicaltrials.gov NCT03862807)。