NIHR Newcastle BRC

Over the past two decades there has been increased interest in orphan drug development for rare diseases. However, hurdles to clinical trial design for these disorders remain. This phase 1a/1b study addressed several challenges, while evaluating the safety and tolerability of the novel oral molecule KL1333 in healthy volunteers and subjects with primary mitochondrial disease. KL1333 aims to normalize the NAD+:NADH ratio that is critical for ATP production.

Alexeyev M.F. Venediktova N. Pastukh V. Shokolenko I. Bonilla G. Wilson G.L. Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes. Gene Ther. 2008; 15: 516-523 Andreux P.A. Blanco-Bose W. Ryu D. Burdet F. Ibberson M. Aebischer P. Auwerx J. Singh A. Rinsch C. The mitophagy activator urolithin A is safe and induces a molecular signature of improved mitochondrial and cellular health in humans. Nat. Metab.