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：二期三庚酸甘油酯治疗长链脂肪酸氧化障碍 抽象的： 脂肪酸氧化障碍是一类罕见的遗传性疾病，影响 估计1：9000名婴儿。最近将脂肪酸氧化障碍添加到 美国扩大新生儿筛查小组已实现早期诊断 以及这组疾病的治疗。通过新生儿进行症状前治疗 筛查减少了代谢失代偿的发生，几乎消除了 死亡。然而，患有长链脂肪酸氧化障碍的患者会经历 长期并发症，例如复发性横纹肌溶解症，伴或不伴 心肌病。该亚组患者的长链脂肪酸患病率 氧化尚不清楚，但估计会影响大约 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，假设可以增加 柠檬酸循环中间体并最大限度地提高能源产量。这项随机临床 试验将检查补充三庚酸甘油酯（庚酸甘油三酯）的功效 治疗患有长链FAO疾病的人类。含有长链脂肪酸的受试者 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（当前的护理标准）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 对总能量消耗的治疗，对中等强度跑步机的反应 运动试验、心功能及长链脂肪酸氧化能力。目标是 该项目旨在确定三庚酸疗法是否比其他疗法具有治疗优势 长链脂肪酸氧化障碍的常规治疗。