Neurology Department, Assistance Publique-Hopitaux de Paris (AP-HP), CERAMIC, Centre Hospitalier Universitaire (CHU) Bicêtre, INSERM U1195, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Alnylam Pharmaceuticals, Cambridge, Massachusetts, USA.
Eur J Neurol. 2024 Sep;31(9):e16384. doi: 10.1111/ene.16384. Epub 2024 Jul 10.
Hereditary transthyretin-mediated amyloidosis with polyneuropathy (ATTRv-PN [v for variant]) is a rare, progressive disease associated with multisystemic impairments. This study assessed the real-world outcomes of patients with ATTRv-PN who switched from tafamidis to patisiran, as well as the reasons for the treatment switch.
This was a retrospective chart review study at a large expert referral center. Data were extracted from medical charts of patients with ATTRv-PN who switched from tafamidis to patisiran on or before 30 August 2019. Data elements included demographic and clinical characteristics, rationale for switch, and disease measures evaluated from tafamidis initiation through the 12-month patisiran treatment period.
Among the 24 patients with ATTRv-PN included in the study, 50.0% had a V30M variant, and the mean (SD) age was 67.3 (8.0) years. During tafamidis treatment (mean [SD] = 30.1 [17.5] months) before switching to patisiran, patients worsened across multiple polyneuropathy measures, including walking ability, Neuropathy Impairment Score, and autonomic function. Neuropathic disease progression on tafamidis was the principal reason for switching to patisiran. After 12 months on patisiran (mean [SD] = 11.7 [1.4] months), patients experienced attenuated disease progression or improvement in the aforementioned measures of polyneuropathy.
Switching from tafamidis to patisiran attenuated the rate of functional decline, and most patients experienced stabilization or improvement of at least one polyneuropathy measure within 12 months of patisiran treatment. Timely switch from tafamidis to patisiran can be beneficial to avoid rapid disease progression in patients with ATTRv-PN.
遗传性转甲状腺素蛋白介导的淀粉样变性伴多发性神经病（ATTRv-PN [v 代表变体]）是一种罕见的、进行性疾病，与多系统损伤有关。本研究评估了从塔法米迪转换为帕替沙尼的 ATTRv-PN 患者的真实世界结局，以及治疗转换的原因。
这是一项在一家大型专家转诊中心进行的回顾性图表审查研究。从 2019 年 8 月 30 日或之前接受从塔法米迪转换为帕替沙尼治疗的 ATTRv-PN 患者的病历中提取数据。数据元素包括人口统计学和临床特征、转换的理由以及从塔法米迪开始到帕替沙尼治疗 12 个月期间评估的疾病指标。
在纳入研究的 24 例 ATTRv-PN 患者中，50.0% 存在 V30M 变体，平均（SD）年龄为 67.3（8.0）岁。在转换为帕替沙尼之前接受塔法米迪治疗（平均[SD]=30.1[17.5]个月）期间，患者在多项多发性神经病指标上恶化，包括步行能力、神经病损伤评分和自主神经功能。在塔法米迪治疗期间出现神经病变进展是转换为帕替沙尼的主要原因。在接受帕替沙尼治疗 12 个月（平均[SD]=11.7[1.4]个月）后，患者的上述多发性神经病指标的疾病进展速度减缓或改善。
从塔法米迪转换为帕替沙尼可减缓功能下降的速度，大多数患者在接受帕替沙尼治疗 12 个月内至少有一项多发性神经病指标稳定或改善。及时从塔法米迪转换为帕替沙尼可有利于避免 ATTRv-PN 患者的疾病快速进展。
