This study is testing N-Acetyl-L-Leucine (a modified amino-acid) for people aged 4 and older with Niemann-Pick Disease Type C (NPC). You would receive either N-Acetyl-L-Leucine or a placebo (an inactive substance) for 12 weeks, then switch to the other treatment for another 12 weeks. Researchers want to see if N-Acetyl-L-Leucine is safe and helps improve ataxia (problems with coordination and balance), which is how they will measure success. After the main study, there's an option for a 3-year extension where you would receive N-Acetyl-L-Leucine. The current status of this study is unclear, and it aims to enroll 53 participants.

Study design

This is a pivotal, randomized, double-blind, placebo-controlled, multi-center study. It involves a crossover design where participants receive both N-Acetyl-L-Leucine and a placebo at different times.

What's involved

You would participate in a baseline period of about 2 weeks, followed by two 12-week treatment periods where you receive either N-Acetyl-L-Leucine or placebo. You will be assessed twice during each study period.

Compensation

Not stated in the trial record.

Follow-up

After the main study, there is an option to join an extension phase for 3 years of open-label treatment.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.