L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial
L. Schöls, J. Zange, M. Abele, M. Schillings, G. Skipka, S. Kuntz-Hehner, Mireille C. P. van Beekvelt, Willy Colier, Klaus Müller, T. Klockgether, H. Przuntek, M. Vorgerd
Impaired oxidative phosphorylation is a crucial factor in the pathogenesis of Friedreich's ataxia (FA). L-carnitine and creatine are natural compounds that can enhance cellular energy transduction. We performed a placebo-controlled triple-phase crossover trial of L-carnitine (3 g/d) and creatine (6.75 g/d) in 16 patients with genetically confirmed FA. Primary outcome measures were mitochondrial ATP production measured as phosphocreatine recovery by 31Phosphorus magnetic resonance spectroscopy, neurological deficits assessed by the international co-operative ataxia rating scale and cardiac hypertrophy in echocardiography. After 4 months on L-carnitine phosphocreatine recovery was improved compared to baseline (p<0.03, t-test) but comparison to placebo and creatine effects did not reach significance (p = 0.06, F-test). Ataxia rating scale and echocardiographic parameters remained unchanged. Creatine had no effect in FA patients. L-carnitine is a promising substance for the treatment of FA patients, and larger trials are warranted. © Springer-Verlag 2004.
Friedreich's ataxia L-carnitine Magnetic resonance spectroscopy Oxidative phosphorylation Therapy
Energy metabolism in human calf muscle performing isometric plantar flexion superimposed by 20-Hz vibration