Real-world tafamidis experience in hereditary transthyretin amyloidosis with peripheral neuropathy in Brazil.

IF 1 4区医学 Q4 NEUROSCIENCES Arquivos de neuro-psiquiatria Pub Date : 2025-01-01 Epub Date: 2025-01-15 DOI:10.1055/s-0044-1793936

Luiz Felipe Pinto, Marcus V Pinto, Paula Accioli, Gabriela Amorim, Renata Gervais de Santa Rosa, Moises Dias, Mariana Guedes, Carlos P Gomez, Roberto C Pedrosa, Marcia Waddington-Cruz

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Abstract

Background: Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in the National Therapeutic Form (Formulário Terapêutico Nacional, FTN, in Portuguese) of the Brazilian Unified Health System (Sistema Único de Saúde, SUS, in Portuguese).

Objective: To assess if the efficacy and safety of tafamidis in the Brazilian real-world experience are comparable to the results of clinical trials.

Methods: We retrospectively studied all patients with ATTRv-PN evaluated at our center from September 2011 to March 2022 (data cut-off) who were initiated on tafamidis and had at least 1 follow up visit 6 months after the initiation of the drug treatment. Neurologic and functional outcomes were compared from day 1 (D1) of the tafamidis treatment (baseline) to the last follow-up.

Results: In total, 33 patients were included, 18 (55%) of whom were female. All patients were carriers of the V30M mutation of ATTRv-PN, and 20 (61%) presented early onset (EO) ATTRv-PN. At baseline, the median age of the sample was of 40 (interquartile range [IQR]: 36-68) years, the median Neuropathy Impairment Score (NIS) was of 10 (6-24) points, and the median body mass index (BMI) was of 26 (23-28) kg/m². The mean follow-up time was of 3.4 years. At the last follow-up, the BMI, the neurological impairment, and the level of disability slightly worsened compared with baseline, while the findings of the nerve conduction studies remained stable. These same results were observed across EO and late-onset (LO) ATTRv-PN patients. A total of 25 (75.8%) patients were considered responders, and 8 (24.2%), non-responders.

Conclusion: The efficacy and safety of tafamidis reported in clinical trials is expandable to the Brazilian real-world scenario in EO and late-onset (LO) ATTRv-PN.

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在巴西遗传性甲状腺素转淀粉样变性伴周围神经病变的真实世界的他法米底的经验。

背景：Tafamidis是一种动力学稳定剂，与甲状腺转甲状腺素（TTR）基因结合，抑制其解离。它是巴西统一卫生系统（Sistema Único de Saúde， SUS，葡萄牙语）的国家治疗表（Formulário Terapêutico Nacional， FTN）中唯一可用于遗传性TTR淀粉样变性伴周围神经病变（ATTRv-PN）的疾病改善治疗方法。目的：评估他法米底斯在巴西实际经验中的有效性和安全性是否与临床试验结果相当。方法：我们回顾性研究2011年9月至2022年3月（数据截止）在本中心评估的所有ATTRv-PN患者，这些患者开始使用他法底斯，并且在开始药物治疗6个月后至少进行了1次随访。从他法底斯治疗的第1天（D1）（基线）到最后一次随访，比较神经和功能结果。结果：共纳入33例患者，其中女性18例（55%）。所有患者均为atv - pn V30M突变携带者，20例（61%）出现早发性（EO） atv - pn。基线时，样本的中位年龄为40岁（四分位间距[IQR]: 36-68）岁，中位神经病变损伤评分（NIS）为10（6-24）分，中位体重指数（BMI）为26 (23-28)kg/m2。平均随访时间为3.4年。在最后一次随访时，与基线相比，BMI、神经损伤和残疾水平略有恶化，而神经传导研究的结果保持稳定。在EO和迟发性（LO） ATTRv-PN患者中观察到相同的结果。共有25例（75.8%）患者被认为有反应，8例（24.2%）患者被认为无反应。结论：临床试验中报告的他法非地的有效性和安全性可扩展到巴西的EO和晚发性（LO） ATTRv-PN的现实情况。

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来源期刊

Arquivos de neuro-psiquiatria 医学-精神病学

CiteScore

2.10

自引率

7.10%

发文量

262

审稿时长

4-8 weeks

期刊介绍： Arquivos de Neuro-Psiquiatria is the official journal of the Brazilian Academy of Neurology. The mission of the journal is to provide neurologists, specialists and researchers in Neurology and related fields with open access to original articles (clinical and translational research), editorials, reviews, historical papers, neuroimages and letters about published manuscripts. It also publishes the consensus and guidelines on Neurology, as well as educational and scientific material from the different scientific departments of the Brazilian Academy of Neurology. The ultimate goals of the journal are to contribute to advance knowledge in the areas of Neurology and Neuroscience, and to provide valuable material for training and continuing education for neurologists and other health professionals working in the area. These goals might contribute to improving care for patients with neurological diseases. We aim to be the best Neuroscience journal in Latin America within the peer review system.