Triheptanoin Treatment Trial for Patients With Long-chain Fatty Acid Beta-oxidation Defects

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.

Inclusion Criteria:

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.

Exclusion Criteria:

• No patient/family collaboration or the application of dietary treatment.
• No in vitro test response.
• Do not meet the inclusion criteria.