Adverse_Events Dataset in Observational Study of Males with Creatine Transporter Deficiency (CTD)

Data from Adverse Events Form
Study Description
This is a multi-center 4 year natural history study of males with Creatine transporter deficiency (CTD). The goal of the study was to collect baseline, longitudinal clinical as well as biochemical data on individuals with CTD. Males between the ages of 2-40 with genetically confirmed CTD were eligible for the study. Visits occurred every 6-12 months and included neurodevelopmental assessment, including speech and swallow assessment, cardiac evaluation. Subjects also had one magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) assessment over the 4 weeks of the study. Males ages 2-40 with creatine transporter deficiency

不良事件报告表数据
研究概况
本研究为针对肌酸转运蛋白缺乏症（Creatine transporter deficiency, CTD）男性患者开展的多中心4年自然史研究，旨在收集该类患者的基线、纵向临床及生物化学数据。年龄介于2至40岁、经基因确诊为肌酸转运蛋白缺乏症的男性符合本研究入组条件。每6至12个月进行一次随访，评估内容涵盖神经发育评估，包括言语与吞咽功能评估及心脏功能检查。受试者需在研究周期的4周内完成一次磁共振成像（magnetic resonance imaging, MRI）与磁共振波谱（magnetic resonance spectroscopy, MRS）检查。年龄2至40岁的肌酸转运蛋白缺乏症男性患者