Eugen Mengel, Marc C Patterson, Rosalia M Da Riol, Mireia Del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Paul Harmatz, Bénédicte Héron, Esther M Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Anne Katrine Andreasen, Marie Aavang Geist, Nikolaj Havnsøe Torp Petersen, Linda Ingemann, Thomas Hansen, Thomas Blaettler, Thomas Kirkegaard, Christine Í Dali
Niemann-Pick disease type C (NPC) is a rare, genetic, progressive neurodegenerative disorder with high unmet medical need. We investigated the safety and efficacy of arimoclomol, which amplifies the heat shock response to target NPC protein misfolding and improve lysosomal function, in patients with NPC. In a 12-month, prospective, randomised, double-blind, placebo-controlled, phase 2/3 trial (ClinicalTrials.gov identifier: NCT02612129), patients (2-18 years) were randomised 2:1 to arimoclomol:placebo, stratified by miglustat use...
November 2021: Journal of Inherited Metabolic Disease