Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD)

Background: Niemann–Pick type C disease (NPCD) is an autosomal recessive lysoso-mal storage disorder caused by mutations in the NPC1 or NPC2 genes. The clinical presentation is characterized by visceral and neurological involvement. Apart from a small group of patients pre-senting a severe perinatal form, all patients develop progressive and fatal neurological disease with an extremely variable age of onset. Different biomarkers have been identified; however, they poorly correlate with neurological disease. In this study we assessed the possible role of plasma NfL as a neurological disease-associated biomarker in NPCD. (2) Methods: Plasma NfL levels were measured in 75 healthy controls and 26 patients affected by NPCD (24 NPC1 and 2 NPC2; 39 samples). (3) Results: Plasma NfL levels in healthy controls correlated with age and were significantly lower in pediatric patients as compared to adult subjects (p = 0.0017). In both pediatric and adult NPCD patients, the plasma levels of NfL were significantly higher than in age-matched controls (p < 0.0001). Most importantly, plasma NfL levels in NPCD patients with neurological involvement were significantly higher than the levels found in patients free of neurological signs at the time of sam-pling, both in the pediatric and the adult group (p = 0.0076; p = 0.0032, respectively). Furthermore, in adults the NfL levels in non-neurological patients were comparable with those found in age-matched controls. No correlations between plasma NfL levels and NPCD patient age at sampling or plasma levels of cholestan 3β-5α-6β-triol were found. (4) Conclusions: These data suggest a promising role of plasma NfL as a possible neurological disease-associated biomarker in NPCD.Fil: Dardis, Andrea. University Hospital of Udine; ItaliaFil: Pavan, Eleonora. University Hospital of Udine; ItaliaFil: Fabris, Martina. University Hospital of Udine; ItaliaFil: Da Riol, Rosalia Maria. University Hospital of Udine; ItaliaFil: Sechi, Annalisa. University Hospital of Udine; ItaliaFil: Fiumara, Agata. University of Catania; ItaliaFil: Santoro, Lucia. Polytechnic University of Marche; ItaliaFil: Ormazabal, Maximiliano Emanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Milanic, Romina. University Hospital of Udine; ItaliaFil: Zampieri, Stefania. University Hospital of Udine; ItaliaFil: Biasizzo, Jessica. University Hospital of Udine; ItaliaFil: Scarpa, Maurizio. University Hospital of Udine; Itali

Antibiotic research and development: business as usual?

This article contends that poor economic incentives are an important reason for the lack of new drugs and explains how the DRIVE-AB intends to change the landscape by harnessing the expertise, motivation and diversity of its partner