RT期刊文章SR电子T1 n -乙酰-的临床疗效和安全性l亮氨酸在儿童和成人GM2 Gangliosidoses摩根富林明神经病学神经学乔FD Lippincott Willi首页ams &威尔金斯SP e1072 OP e1083 10.1212 / WNL。100签证官0000000000201660是10 A1 Martakis, Kyriakos A1 Claassen,乔迪A1 Goldschagg, Jens A1 Gascon-Bayari Nicolina A1哈恩,安德烈亚斯A1哈桑,安哈A1 Hennig,安妮塔A1琼斯,西蒙A1凯,理查德A1 Lau,希瑟A1帕尔曼,苏珊A1沙玛,丽娜A1施耐德,Susanne A1 Bremova-Ertl,塔蒂阿娜年2023 UL //www.ez-admanager.com/content/100/10/e1072.abstract AB背景和目标GM2 gangliosidoses(家族黑蒙性白痴和Sandhoff疾病)是罕首页见的常染色体隐性,没有症状或疾病修饰治疗神经退行性疾病。这个临床试验研究N-acetyl-l-leucine(纳尔),一个口头管理,修改后的氨基酸在儿科(≥6年)和成人患者GM2 gangliosidoses。方法在这个IIb阶段,跨国公司、非盲、rater-blinded研究(ib1001 - 202),≥6岁的男性和女性患者的基因诊断证实GM2 gangliosidoses收到口头管理纳尔为六周治疗期(4 g / d≥13年的病人,weight-tiered剂量对患者6 - 12年),紧随其后的是六周后治疗冲刷时期。严重性的主要临床印象变化分析,病人表现一个预先确定的主锚测试(8米级走测试或者9洞桩测试)在基线,在纳尔6周后,六周后再洗脱期被蒙蔽评级机构集中拍摄和评估。二次结果包括评估共济失调,临床全球印象,和生活质量。结果30例患者6 - 55岁之间的被录取。29有治疗评估,包括在主要修改意向处理分析。研究了其CI-CS主要终点(平均差0.71,SD = 2.09, 90% CI 0.00, 1.50, p = 0.039),以及二次措施共济失调和全球的印象。纳尔是安全,耐受性良好,没有严重的不良反应。讨论治疗纳尔与统计学意义和临床相关的功能和生活质量的变化患者GM2 gangliosidosis。 NALL was safe and well tolerated, contributing to an overall favorable risk:benefit profile. NALL is a promising, easily administered (oral) therapeutic option for these rare, debilitating diseases with immense unmet medical needs.Trial Registration Information The trial is registered with ClinicalTrials.gov (NCT03759665; registered on November 30, 2018), EudraCT (2018-004406-25), and DRKS (DRKS00017539). The first patient was enrolled on June 7, 2019.Classification of Evidence This study provides Class IV evidence that NALL improves outcomes for patients with GM2 gangliosidoses.8MWT=8-Meter Walk Test; AE=adverse event; CGI=Clinical Global Impression; MCL=Medpace Core Laboratories; NPC=Niemann-Pick disease type C; SARA=Scale for the Assessment and Rating of Ataxia; SCAFI=Spinocerebellar Ataxia Functional Index; SAP=statistical analysis plan; TEAE=treatment-emergent adverse event; VAS=visual analog scale

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