Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C
In crossover trial RCT (n=60), 12 weeks treatment led to better neurologic status than placebo (mean ±SD change from baseline in Scale for the Assessment and Rating of Ataxia total score =−1.97±2.43 vs −0.60±2.39 points placebo; p<0.001), but longer term studies needed
Source:
New England Journal of Medicine
SPS commentary:
Niemann–Pick disease type C is a rare, progressive, debilitating, and prematurely fatal autosomal recessive lysosomal storage disorder. N-acetyl-l-leucine is postulated to ameliorate lysosomal and metabolic dysfunction. It is administered orally and is taken up by monocarboxylate transporters, and enters enzyme-controlled pathways that correct metabolic dysfunction and improves ATP energy production.