N-acetyl-L-leucine
acute vertigo, Tay-Sachs and Sandhoff diseases, ataxia
LYSOSOMAL STORAGE DISORDER, GM2 GANGLIOSIDOSIS
N-acetyl-L-leucine (Sponsor Code “IB1001”) is the L-enantiomer of N-acetyl-DL-leucine, a modified, acetylated derivative of a natural essential amino acid (Leucine) that has been available in France since 1957 as a racemate (equal amounts of both D- and L-enantiomers) under the trade name Tanganil™ (Pierre Fabre Laboratories, France) as a treatment for acute vertigo. Prior observational studies assessing the effect of N-acetyl-DL-leucine in patients with NPC suggest a beneficial symptomatic as well as neuroprotective disease-modifying effect of this agent. In a case series, short-term treatment with N-acetyl-DL-leucine was found to improve ataxia, cognition, and quality of life in 12 patients with NPC [Recently, two multinational, phase IIb clinical trials with N-acetyl-L-leucine for NPC and the related lysosomal storage disorder GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) were completed [Animal studies in the NPC mouse model have shown that the L-enantiomer, i.e., N-acetyl-L-leucine, has potential clinical benefits compared to the racemic mixture. N-acetyl-L-leucine is a pro-drug of L-leucine and has a unique transport mechanism [