Long-chain Fatty Acid Transport Deficiency
Conditions
Keywords
Triglycerides; Lipid Metabolism; Fatty Acids.
Brief summary
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.
Detailed description
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.
Interventions
DRUGTriheptanoin (SpezialölÒ 107®)
* Randomization: Treatment with Triheptanoin for 6 months * Washout Period: Treatment with MCT(Medium-Chain Triglycerides)for 2 months * Crossover: Treatment with MCT(Medium-Chain Triglycerides)for 6 months
DIETARY_SUPPLEMENTMCT (Medium-Chain Triglycerides)
* Randomization: Treatment with MCT(Medium-Chain Triglycerides)for 6 months * Washout Period: Treatment with MCT(Medium-Chain Triglycerides)for 2 months * Crossover: Treatment with Triheptanoin for 6 months
Sponsors
Fundación Ramón Domínguez
Maria Luz Couce Pico
Study design
Allocation
RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of metabolic decompensation. | 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. |
Secondary
| Measure | Time frame |
|---|---|
| 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 |
Countries
Spain
Outcome results
None listed