L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial.
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.
Schöls
L
L
Centre of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany. ludger.schoels@uni-tuebingen.de
Zange
J
J
Abele
M
M
Schillings
M
M
Skipka
G
G
Kuntz-Hehner
S
S
van Beekvelt
M C P
MC
Colier
W N J M
WN
Müller
K
K
Klockgether
T
T
Przuntek
H
H
Vorgerd
M
M
D000255:Adenosine Triphosphate / Q000096:biosynthesis; D000293:Adolescent; D000328:Adult; D006332:Cardiomegaly / Q000188:drug therapy / Q000209:etiology; D002331:Carnitine / Q000627:therapeutic use*; D002648:Child; D003401:Creatine / Q000627:therapeutic use*; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications / Q000188:drug therapy*; D006321:Heart / Q000187:drug effects; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000187:drug effects / Q000378:metabolism; D010725:Phosphocreatine / Q000187:drug effects / Q000378:metabolism; D016896:Treatment Outcome
D010725:Phosphocreatine; D000255:Adenosine Triphosphate; D003401:Creatine; D002331:Carnitine