Trial of N -Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Tatiana Bremova-ErtlUma RamaswamiMarion M M G BrandsTomas FoltanMatthias GautschiPaul GissenFrancesca GowingAndreas HahnSimon JonesRichard KayMiriam KolnikovaLaila Arash-KapsThorsten MarquardtKarl Eugen MengelJulien H ParkStella ReichmannováSusanne A SchneiderSiyamini SivananthanMark WalterfangPierre WibawaMichael Leo StruppKyriakos MartakisPublished in: The New England journal of medicine (2024)
Among patients with Niemann-Pick disease type C, treatment with NALL for 12 weeks led to better neurologic status than placebo. A longer period is needed to determine the long-term effects of this agent in patients with Niemann-Pick disease type C. (Funded by IntraBio; ClinicalTrials.gov number, NCT05163288; EudraCT number, 2021-005356-10.).