Tatiana Bremova-Ertl, Uma Ramaswami, Marion Brands, Tomas Foltan, Matthias Gautschi, Paul Gissen, Francesca Gowing, Andreas Hahn, Simon Jones, Richard Kay, Miriam Kolnikova, Laila Arash-Kaps, Thorsten Marquardt, Eugen Mengel, Julien H Park, Stella Reichmannová, Susanne A Schneider, Siyamini Sivananthan, Mark Walterfang, Pierre Wibawa, Michael Strupp, Kyriakos Martakis
BACKGROUND: Niemann-Pick disease type C is a rare lysosomal storage disorder. We evaluated the safety and efficacy of N -acetyl-l-leucine (NALL), an agent that potentially ameliorates lysosomal and metabolic dysfunction, for the treatment of Niemann-Pick disease type C. METHODS: In this double-blind, placebo-controlled, crossover trial, we randomly assigned patients 4 years of age or older with genetically confirmed Niemann-Pick disease type C in a 1:1 ratio to receive NALL for 12 weeks, followed by placebo for 12 weeks, or to receive placebo for 12 weeks, followed by NALL for 12 weeks...
February 1, 2024: New England Journal of Medicine