Valproate, Acetylcarnitine, Folic Acid, and Vitamin B12 in Spinal Muscular Atrophy: Preliminary Data of an Open-Label Study in Children

This open-label study aimed to evaluate the tolerability and efficacy of a combination treatment involving valproate, acetylcarnitine, folic acid, and vitamin B12 in children with Spinal Muscular Atrophy (SMA) types II and III. Fifteen patients aged between 3 years and 10 months to 12 years and 1 month were enrolled. The treatment regimen included oral valproate (20 mg/kg per day), acetylcarnitine (1 g/day), with some patients also receiving folic acid (10 mg/week) and vitamin B12 (0.8 mg/week). Efficacy was measured through changes in motor function, muscle strength, and forced vital capacity over 6 and 12 months. Tolerability was assessed via clinical examinations, blood and urine tests, and muscle spectroscopy. Preliminary results after 6 months indicated increased muscle strength and improved subjective function without significant adverse effects, suggesting potential benefits of the treatment combination for SMA patients.