This clinical trial is focused on studying the effects of a treatment called N-Acetyl-L-Leucine on a rare genetic disorder known as Niemann-Pick disease type C (NPC). NPC is a condition that affects the body’s ability to transport cholesterol and other fatty substances inside cells, leading to neurological problems. The treatment being tested is in the form of an oral suspension, which means it is a liquid medicine taken by mouth.
The purpose of the study is to evaluate how effective N-Acetyl-L-Leucine is in treating NPC. Participants in the study will be randomly assigned to receive either the treatment or a placebo, which is a substance with no active medication. The study is designed to be double-blind, meaning neither the participants nor the researchers will know who is receiving the actual treatment or the placebo. This helps ensure that the results are not biased. The study will also use a crossover design, which means that participants will switch from the treatment to the placebo, or vice versa, at a certain point during the study.
Throughout the study, participants will be monitored to assess the impact of the treatment on their condition. The main focus will be on changes in their ability to perform certain movements and tasks, as measured by a tool called the Scale for the Assessment and Rating of Ataxia (SARA). Other aspects of the participants’ health and quality of life will also be evaluated. The study is expected to continue until the end of 2026.
Czechia 
Germany 
Slovakia 
The Netherlands 
