Long-chain Fatty Acid Transport Deficiency Clinical Trial
Official title:
Study to Evaluate the Effectiveness of Dietary Treatment With Triheptanoin in Patients With Long-chain Fatty Acid Beta-oxidation Defects
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.
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.
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Allocation: Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Crossover Assignment, Masking: Open Label, Primary Purpose: Treatment