Gentile Luca, Russo Massimo, Luigetti Marco, Bisogni Giulia, Di Paolantonio Andrea, Romano Angela, Guglielmino Valeria, Arimatea Ilenia, Sabatelli Mario, Toscano Antonio, Vita Giuseppe, Mazzeo Anna
Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.
Brain Sci. 2021 Apr 19;11(4):515. doi: 10.3390/brainsci11040515.
Hereditary amyloidosis associated with mutations in the transthyretin gene (hATTR) is a progressive devastating disease, with a fatal outcome occurring within 10years after onset. In recent years, TTR gene silencing therapy appeared as a promising therapeutic strategy, showing evidence that disease progression can be slowed and perhaps reversed. We report here 18 subjects affected by hATTR amyloidosis treated with patisiran, a small interfering RNA acting as TTR silencer, and evaluated with a PND score, the NIS and NIS-LL scale, and a Norfolk QOL-DN questionnaire at baseline and then every 6 months. A global clinical stabilizationwas observed for the majority of the patients, with mild-moderate improvements in some cases, even in advanced disease stage (PND score > 2). Analysis of NIS, NIS-LL and Norfolk QOL-DN results, and PND score variation suggest the possible presence of a 6-month latency period prior to benefit of treatment.
与转甲状腺素蛋白基因突变相关的遗传性淀粉样变性病（hATTR）是一种进行性破坏性疾病，发病后10年内会导致致命后果。近年来，转甲状腺素蛋白（TTR）基因沉默疗法成为一种有前景的治疗策略，有证据表明疾病进展可以减缓甚至逆转。我们在此报告了18例受hATTR淀粉样变性病影响的患者，他们接受了帕替拉韦治疗，帕替拉韦是一种作为TTR沉默剂的小干扰RNA，并在基线时以及之后每6个月使用PND评分、NIS和NIS-LL量表以及诺福克QOL-DN问卷进行评估。大多数患者观察到整体临床稳定，在某些情况下有轻度至中度改善，即使在疾病晚期（PND评分>2）。对NIS、NIS-LL和诺福克QOL-DN结果以及PND评分变化的分析表明，在治疗受益之前可能存在6个月的潜伏期。
