The Effects of N-Acetyl-L-Leucine on the Symptoms in Patients with Spinocerebellar Ataxia: A Four-Case Experimental Study

Background & Objective: This study aimed to evaluate the effect of N-acetyl-L-leucine (NALL) supplementation on motor symptoms and quality of life (QOL) in patients with spinocerebellar ataxia (SCA). Due to the lack of effective treatments for this disorder and previous evidence suggesting potential neuroprotective effects of this compound, investigating its efficacy could be a crucial step toward improving clinical outcomes.Methods: This study was a four-case experimental study with a cross-over design involving children with SCA. Patients were randomly assigned to one of two treatment sequences: the intervention-placebo sequence, or the placebo–intervention sequence. During the first phase, one group received NALL supplementation while the other received a placebo over four weeks. Following a four-week washout period, the treatment sequences were switched between the two groups. Patients were evaluated using standard measures including SARA, SCAFI, and the PedsQL QOL questionnaire at baseline and the end of each phase. A fasting blood sample was taken from all participants at each stage of the study. Additionally, adverse drug reactions were assessed after each intervention to monitor safety.Results: Four girls with SCA, with an average age of ۱۲.۲۵±۲.۸۷ years, completed the study. The findings suggested improvements in the Total SARA Score, physical functioning as reported by the parents, and psychosocial health as reported by the child. The study showed that administering ۲-۴ grams of NALL per day over a four-week period to these patients did not result in any adverse effects. Conclusion: Short-term NALL supplementation appeared safe and well tolerated in this small series. The trends towards improvement in certain measures, along with positive individual clinical responses, highlight the need for larger, longer-term, and more rigorously controlled trials.

کلیدواژه ها:

N-acetyl-L-leucine ، Neurodegenerative disease ، Motor symptoms ، Quality of life ، Spinocerebellar ataxia