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

标题：二期三庚烷治疗长链脂肪酸氧化障碍 摘要： 脂肪酸氧化障碍是一种罕见的遗传性疾病，影响 估计有1：9000名婴儿。最近脂肪酸氧化紊乱的增加 美国扩大新生儿筛查小组导致早期诊断 以及对这类疾病的治疗。通过新生儿进行症状前治疗 筛查减少了代谢失调的发作，几乎消除了 死亡率。然而，患有长链脂肪酸氧化紊乱的患者 长期并发症，如复发性狂犬肌溶解伴或不伴 心肌病。这一亚组长链脂肪酸患者的患病率 氧化作用尚不清楚，但估计影响约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，假设增加 柠檬酸循环中间体，最大限度地提高能源产量。这个随机的临床试验 试验将检验补充三庚酸(一种庚酸甘油三酯)的效果。 治疗患有长链粮农组织疾病的人类。患有长链脂肪酸的受试者 氧化紊乱将随机分配到以下两组之一：中链 甘油三酯(MCT)补充剂，当前的护理标准，或三庚酸 四个月的补充。4个月后，我们将测试补充剂的效果 对总能量消耗的治疗，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。的目标是 该项目是为了确定三庚烷疗法是否比 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.