Patients with Friedreich’s ataxia commonly have difficulty walking due to imbalance issues or trouble conducting daily activities due to reduced upper arm function. Theresa Zesiewicz, MD, FAAN, from the University of South Florida (USF) in Tampa, is seeking to the study the course of these pains and is sponsoring a clinical trial for “An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich’s Ataxia.” The goal of the study is to study the effects of acetyl-L-carnitine (ALCAR) on heart function and other symptoms of Friedreich’s ataxia, including imbalance, trouble walking, and decreased upper arm function.
An estimated 20 patients will enroll in the study, with aims to conclude data collection in June 2017. As an open-label evaluation, all patients will receive ALCAR treatment, in a dose of up to 2 grams per day for two years.
As a means for evaluating cardiovascular effects, researchers will use echocardiography with strain rate to measure changes in cardiomyopathy. A number of other clinical studies previously validated this technique as an appropriate means for determining regional deformation and myocardial wall thickness.
Friedreich’s Ataxia Research Alliance (FARA) lists ALCAR as a modulator of frataxin-controlled metabolic pathways. According to a press release from Morsani College of Medicine at USF, ALCAR is involved in lipid metabolism. Studies identified positive effects of ALCAR treatment on cardiovascular disease and motor coordination. Yet until now, no studies have evaluated the use of ALCAR in patients with Friedreich’s ataxia, making Dr. Zesiewicz’s study a pioneering effort to bring more treatments for Friedreich’s ataxia to the clinic.
Related work is encouraging for beneficial outcomes. A “Double-blind, Crossover, Placebo-controlled Clinical Trial with L-acetylcarnitine in Patients with Degenerative Cerebellar Ataxia,” published in Clinical Neuropharmacology, demonstrated improvements in some symptoms of disease and slowed disease progression. Later, a study involving L-carnitine and creatine identified L-carnitine as a “promising substance for the treatment of Friedreich’s ataxia,” while “creatine had no effect in Friedreich’s ataxia patients.” This work, “L-carnitine and Creatine in Friedreich’s Ataxia: A Randomized, Placebo-controlled Crossover Trial,” was published in Journal of Neural Transmission.