N-Acetyl-L-Leucine for Spinocerebellar Ataxias

This trial tests a new treatment, N-acetyl-L-leucine, to determine if it improves symptoms in individuals with genetic disorders affecting coordination and balance, such as Spinocerebellar Ataxia and Familial Hemiplegic Migraine. The study compares this treatment's effects against a placebo to assess its safety and effectiveness. Individuals diagnosed with a CACNA1A disorder who experience symptoms like difficulty walking or frequent migraines may be suitable candidates for this trial. As a Phase 3 trial, this study represents the final step before FDA approval, offering participants the opportunity to contribute to the potential availability of a new treatment.

You can continue taking your current medications if they are not on the prohibited list and you have been on a stable dose for at least 42 days before the trial starts. You must keep the same dose throughout the study. If you are taking prohibited medications, you will need to stop them 42 days before the trial begins.

Research has shown that N-Acetyl-L-Leucine (also known as IB1001) has undergone safety and tolerability testing in several clinical trials. One study found it alleviated symptoms like nausea and constipation in individuals with ataxia, a condition affecting balance and coordination, suggesting the treatment was well-tolerated. The safety of N-Acetyl-L-Leucine has been thoroughly examined, and these trials indicate it is generally safe for use.

Unlike typical treatments for spinocerebellar ataxias, which often focus on managing symptoms or slowing disease progression, N-acetyl-L-leucine acts differently. This treatment is unique because it directly targets cellular energy metabolism, which could potentially improve motor function more effectively. Additionally, it's administered as an easy-to-take oral granule that can be mixed with drinks like water or juice, making it convenient for patients. Researchers are excited because this approach could offer quicker and more significant improvements in symptoms compared to existing therapies.

This trial will compare N-acetyl-L-leucine (NALL) with a placebo to evaluate its effects on spinocerebellar ataxias. Research has shown that NALL may alleviate symptoms like nausea and constipation in people with ataxia. However, it has not significantly improved the main symptoms of ataxia, such as balance or coordination issues. In another study with 108 patients, a similar compound, acetyl-DL-leucine, also did not aid in cerebellar ataxia. While the treatment appears safe, its benefits for ataxia symptoms remain unclear.¹⁵⁶⁷⁸