Biomarkers are key to diagnosing NPC1, tracking progression and proving treatment effect in trials. A new review highlights their central role in regulatory approval and drug development.

📄 doi.org/10.1002/jimd...

#NPC1 #Biomarkers #RareDisease

The team, led by Dr Radha Desai and Dr Raffaele Pastore, focused on the mechanism of the #GeneticDisorder #NiemannPick type C (NPC): this rare autosomal condition stems from mutations in the genes #NPC1 or #NPC2, and leads to the accumulation of #lipids in the cellular #organelles #lysosomes.