Fatty Acid Oxidation Defects Clinical Trial
Official title:
Acute Nutritional Ketosis in VLCAD Deficiency: Testing the Metabolic Base for Therapeutic Use
To test if a ketone-ester based drink can boost muscle mitochondrial function in vivo in patients with VLCADD in order to establish a rational basis for therapeutic use in this disorder.
Exertional rhabdomyolysis is a common symptom in very long-chain acylCoA dehydrogenase
deficient (VLCADD) patients. Failing muscle ATP homeostasis, due to impaired fatty acid
oxidation, is the most likely cause. Therefore, supplementation with an alternative energy
substrate to boost ATP homeostasis, such as an exogenous ketone ester (KE) drink, could be a
therapeutic option. Previous results suggest that KE is preferentially oxidized in the
tricyclic acid (TCA) cycle and improves physical endurance in athletes. Our primary objective
is to test if KE boosts muscular ATP homeostasis in VLCADD patients to establish a rational
basis for therapeutic use.
VLCADD patients will be included in a randomized, blinded, placebo controlled, 2-way
cross-over trial. Prior to each test, patients receive a KE drink or an isocaloric
carbohydrate equivalent, and completed a 35 min cycling test on an upright bicycle, followed
by 10 minutes of supine cycling inside a MR scanner. The protocol will be repeated after at
least one week with the opposite drink.
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| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Active, not recruiting |
NCT02635269 -
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
|
N/A |