Ph 2 Study of Triheptanoin for Tx of Long-Chain Fatty Acid Oxidation Disorder

三庚酸甘油酯治疗长链脂肪酸氧化障碍的二期研究

• 批准号: 8264927
• 负责人: Melanie B Gillingham
• 金额: $ 37.92万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-05-20 至 2014-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8264927
• 关键词: Ph; Study; Triheptanoin; Tx; Long

Title: Phase 2 Triheptanoin for Tx of Long-Chain Fatty Acid Oxidation Disorder Abstract: Fatty acid oxidation disorders are a family of rare inherited diseases affecting an estimated 1:9000 infants. The recent addition of the fatty acid oxidation disorders to the expanded newborn screening panel in the United States has led to the early diagnosis and treatment of this group of disorders. Presymptomatic treatment through newborn screening has decreased episodes of metabolic decompensation and nearly eliminated mortality. However, patients with a long-chain fatty acid oxidation disorders experience long-term complications such as recurrent rabdomyolysis with or without cardiomyopathy. The prevalence of this sub-group of patients with long-chain fatty acid oxidation is unknown but it is estimated to affect approximately 1000 individuals or less in the United States. Novel treatments for these diseases have lagged behind our diagnostic capabilities. We propose to test a novel treatment hypothesized to increase citric acid cycle intermediates and maximize energy production. This randomized clinical trial will examine the efficacy of triheptanoin supplementation (a heptanoate triglyceride) to treat humans with long-chain FAO disorders. Subjects with a long-chain fatty acid oxidation disorder will be randomly assigned to one of two groups: medium chain triglyceride (MCT) supplementation, the current standard of care, or triheptanoin supplementation for four months. After 4 months we will test the effects of supplement treatment on total energy expenditure, the response to a moderate intensity treadmill exercise test, cardiac function and long-chain fatty acid oxidation capacity. The goal of the project is to determine if triheptanoin therapy has a therapeutic advantage over conventional treatment for long-chain fatty acid oxidation disorders.

标题：长链脂肪酸氧化障碍Tx的2阶段triheptanoin 抽象的： 脂肪酸氧化障碍是一个罕见遗传疾病的家族，影响了 估计1：9000个婴儿。最近添加了脂肪酸氧化障碍 美国扩大的新生儿筛查面板已导致早期诊断 和治疗这组疾病。通过新生儿治疗 筛查的代谢代谢发作减少，几乎消除了 死亡。但是，具有长链脂肪酸氧化障碍的患者经历 长期并发症，例如复发性兔溶解，有或没有 心肌病。长链脂肪酸患者的这一亚组的患病率 氧化尚不清楚，但估计会影响大约1000个人或更少 在美国。这些疾病的新型治疗已落后于我们 诊断功能。我们建议测试一种假设增加的新方法 柠檬酸循环中间体并最大化能量产生。这个随机临床 试验将检查补充三脑植物的功效（七甘油三酸酯） 用长链粮农组织疾病对待人类。长链脂肪酸的受试者 氧化障碍将随机分配给两组之一：中链 甘油三酸酯（MCT）补充，当前的护理标准或Triheptanoin 补充四个月。 4个月后，我们将测试补充的影响 总能量消耗的治疗，对中等强度跑步机的响应 运动测试，心脏功能和长链脂肪酸氧化能力。目标 该项目是确定triheptanoin疗法是否具有治疗优势 长链脂肪酸氧化疾病的常规处理。