在CEPARM,Clementino Fraga Filho大学医院,里约热内卢联邦大学的内托尔森的现实生活经验
Moises Dias1,2, Luiz Felipe Pinto2, Marcus Vinícius Pinto2,3
1Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Serviço de Nefrologia, Rio de Janeiro RJ, Brazil.
Arquivos de neuro-psiquiatria
|April 5, 2024
概括
伊诺特森疗法在遗传性转基因氨基粉症与多神经病变 (ATTRv-PN) 中显示出长期的疗效和安全性. 这种治疗维持了神经功能,并且在平均67个月内耐受良好.
科学领域:
- 遗传学和分子生物学
- 神经学 神经学
- 药理学 药理学是指药理学的学科.
背景情况:
- 遗传性转基因氨基粉症 (ATTRv) 是一种被诊断不足,进展性和致命的遗传性疾病.
- ATTRv 源于 transthyretin (TTR) 基因的突变,导致蛋白质错折和组织沉积.
- 这种疾病具有异质的临床表型,使诊断和治疗复杂化.
研究的目的:
- 评估在被诊断为ATTRv外围神经病变 (ATTRv-PN) 的患者内托塞恩治疗的长期疗效.
- 评估伊诺特森在患有ATTRv-PN的患者中的长期安全性.
- 延长之前在NEURO-TTR研究中注册的患者的观察期.
主要方法:
- 包括之前完成了 inotersen 研究 (NEURO-TTR 和其开放标签扩展) 的患者.
- 随访延长了至少18个月,从第一剂开始平均67个月 (最多76个月).
- 使用标准的神经和功能评估来监测疾病进展.
主要成果:
- 分析了10名患有Val30Met突变ATTRv-PN的患者,在基线时平均疾病持续时间为3年.
- 在延长后续期间,神经功能 (NIS,PDS),功能状态 (KPS) 和营养/心脏参数保持稳定.
- 在延长治疗期间,没有发现新的安全问题.
结论:
- 伊诺特森治疗在ATTRv-PN患者中被证明是有效的,并且在平均67个月的时间内被很好地容忍.
- 观察到的疗效和安全性与较大的III期临床试验的发现一致.
- 长期的伊诺特森疗法为管理ATTRv-PN提供了持续的益处.
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