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

标题：用于治疗长链脂肪酸氧化障碍的2期三庚酸甘油酯 摘要： 脂肪酸氧化障碍是一种罕见的遗传性疾病， 1：9000婴儿最近增加的脂肪酸氧化障碍， 美国新生儿筛查小组的扩大导致了早期诊断 和治疗这组疾病的方法。通过新生儿进行症状前治疗 筛查减少了代谢失调的发生， mortality.然而，患有长链脂肪酸氧化障碍的患者 长期并发症，如复发性横纹肌溶解， 心肌病该亚组患者的长链脂肪酸患病率 氧化是未知的，但据估计，影响约1000人或更少 在美国这些疾病的新疗法已经落后于我们的 诊断能力。我们建议测试一种新的治疗方法， 柠檬酸循环中间体和最大限度地提高能源生产。这项随机临床 试验将检查三庚酸甘油酯补充剂（一种庚酸甘油三酯）的功效 来治疗人类的长链粮农组织疾病。长链脂肪酸受试者 氧化障碍将被随机分配到两组之一：中链 甘油三酯（MCT）补充剂、当前标准治疗或三庚酸甘油酯 补充四个月。4个月后，我们将测试补充剂的效果 治疗对总能量消耗，对中等强度跑步机的反应 运动试验、心功能和长链脂肪酸氧化能力。的目标 该项目旨在确定三庚酸甘油酯治疗是否具有治疗优势， 用于长链脂肪酸氧化障碍的常规治疗。

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.