New drug for Niemann-Pick disease type C1 appears safe, effective
Researchers report that an experimental drug appears to be safe and effective at slowing the progression of Niemann-Pick disease type C1.
ConclusionsThis is the largest screening study conducted to date in Turkey in the families of patients with NP-C with homozygous inheritance. We have reported heterozygote frequencies, identified a novel mutation, and detected new patients with NP-C. These findings will aid our understanding of NP-C and may lead to improved recognition and more timely diagnosis.
A new clinical trial conducted by Washington University School of Medicine in St Louis and the National Institutes of Health (NIH) in the US has shown that a drug called cyclodextrin slows progression of Niemann-Pick type C (NPC) disease.
NIH-led clinical trial suggests that drug slows progression of rare neurological disease.
Publication date: Available online 10 August 2017 Source:The Lancet Author(s): Robert P Erickson, Maria Teresa Fiorenza
Publication date: Available online 10 August 2017 Source:The Lancet Author(s): Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, Kelly A King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J Pavan, Bernardus N Machielse, Mark Kao, Steven A Silber, John C McKew, Carmen C Brewer, Charles H Vite, Steven U Walkley, Christopher P Austin, Forbes D Porter Background Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised...
Results of a small clinical trial in Washington State have shown promise to treat the neurogenerative condition called Niemann-Pick type C (NPC) that typically kills those afflicted before they turn 20.
In conclusion, these findings demonstrate that NPC1 plays an important role in type I FCoV infection. U18666A or other cholesterol transport inhibitor may be considered as the antiviral drug for the treatment of cats with FIP. PMID: 28780424 [PubMed - as supplied by publisher]
In conclusion, these findings demonstrate that NPC1 plays an important role in type I FCoV infection. U18666A or other cholesterol transport inhibitor may be considered as the antiviral drug for the treatment of cats with FIP.
In conclusion, these studies demonstrate that the Npc1 gene interacts with a HFD to promote weight gain through differential regulation of central energy metabolism pathways.
Publication date: Available online 1 August 2017 Source:Molecular Genetics and Metabolism Author(s): Shahzeb Hassan, Ellen Sidransky, Nahid Tayebi The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characteriz...