Study objectives
Ataxia, ataxia
ATAXIA, NIEMANN-PICK DISEASE TYPE C, SECONDARY
The Parent Study and Extension Phase enable the investigation of both the symptomatic (12-week) and long-term (1-year) safety and efficacy of treatment with N-acetyl-L-leucine. The primary objective of the Parent Study is to evaluate the efficacy of N-acetyl-L-leucine versus placebo based on the Scale for the Assessment and Rating of Ataxia (SARA) or modified SARA (mSARA). In the Extension Phase, the primary objective is to evaluate the effects of N-acetyl-L-leucine based on the modified (5-domain) Niemann-Pick disease type C Clinical Severity Scale (NPC-CSS).For both study phases, the secondary objectives are:To assess the clinical efficacy (symptomatic and long-term) of N-acetyl-L-Leucine on symptoms of ataxia, functioning, and quality of life for patients with NPCTo evaluate the safety and tolerability of N-acetyl-L-leucine at 4 g/day in patients with NPC aged ≥ 4 years and olderExtension Phase only: characterize the pharmacokinetics of N-acetyl-L-leucine in NPC patients