Study to Evaluate the Effectiveness of Dietary Treatment With Triheptanoin in Patients With Long-chain Fatty Acid Beta-oxidation Defects
试验速览
- 阶段
- 3 期
- 状态
- 撤回
- 发起方
- 试验地点
- 1
- 主要终点
- Number of metabolic decompensation.
研究概览
简要总结
The purpose of this study is to determine if administration Triheptanoin is an effective treatment for defects of the long-chain fatty acid beta-oxidation in young adults or adults. Period of treatment and follow-up will be 16 months.
详细描述
Triheptanoin treatment, in patients with long-chain fatty acid beta-oxidation defects, could cause not only a great improvement in their quality of life, also could prevent life-threatening signs, reducing symptoms and serious complications of their disease, like cardiomyopathy, Reye-like syndrome episodes and rhabdomyolysis. This result would occur by the effect of propionyl CoA primer on the Krebs cycle and, at the same time, would produce a gluconeogenic effect.
This treatment opens the door to be used in other diseases such as pyruvate carboxylase deficiency, glycogen storage disease and other diseases with energy problems.
All patients will be followed up until 16 months.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Crossover
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients with any of the following conditions:
- •Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD).
- •Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD.)
- •Mitochondrial trifunctional protein (MTP).
- •Carnitine palmitoyltransferase I deficiency (CPT I).
- •Carnitine Palmitoyltransferase II (CPT II).
- •Carnitine-acylcarnitine translocase deficiency (CACT).
- •Positive skin biopsy: patients were deemed to commence the dietary treatment with Triheptanoin after evaluating the individual response in vitro in cultured fibroblasts. This response is based on the measurement of the production of propionyl-CoA, the incubation with fatty acids odd-chain, compared with control group fibroblasts.
- •The informed consent must be signed by the patient or family, in the case of minors.
排除标准
- •No patient/family collaboration or the application of dietary treatment.
- •No in vitro test response.
- •Do not meet the inclusion criteria.
研究组 & 干预措施
Triheptanoin
干预措施: Triheptanoin (SpezialölÒ 107®) (Drug)
Triheptanoin
干预措施: MCT (Medium-Chain Triglycerides) (Dietary Supplement)
MCT (Medium-Chain Triglycerides)
干预措施: Triheptanoin (SpezialölÒ 107®) (Drug)
MCT (Medium-Chain Triglycerides)
干预措施: MCT (Medium-Chain Triglycerides) (Dietary Supplement)
结局指标
主要结局
Number of metabolic decompensation.
时间窗: up to 16 months
This is a combined endpoint, including the number and/or severity of episodes of hypoglycemia, rhabdomyolysis, cardiomyopathy and liver failure after starting treatment with trihepatnoin.
次要结局
- Differences in the profiles of acylcarnitines with control.(6 months and 6 months in each arm treatment)
- Average values of transaminase and creatin kinase.(6 months and 6 months in each arm treatment)
- Differences in the fatty acid composition of plasma and red blood cells.(6 months and 6 months in each arm treatment)
研究者
Maria Luz Couce Pico
MD
Hospital Clinico Universitario de Santiago