Niemann Pick Disease Type C News and Research

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Study shows how two proteins provide a tunnel for bad cholesterol to enter the cells

A study has outlined how two proteins are instrumental to bringing cholesterol into cells – a finding that has implications for a range of diseases.

26 Jun 2020

New molecular mechanism involved in the regulation of cholesterol movement in cells found

Researchers from the University of Barcelona and the August Pi i Sunyer Biomedical Research Institute found a new molecular mechanism involved in the regulation of the cholesterol movement in cells, an essential process for a proper cell functioning.

2 Dec 2019

Gene therapy may be effective method for treating Niemann-Pick disease, type C1

For the first time, National Institutes of Health researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1).

26 Oct 2016

Newborn screen for Niemann-Pick disease type C ready for piloting

Researchers have developed a bile acid-based test that they believe could help screen for Niemann-Pick disease type C in newborns.

6 May 2016

Simple test for measuring bile acids in biological fluids can help diagnose severe fat storage disorder

Researchers have developed a quick and simple method for measuring bile acids in biological fluids that can be used to rapidly diagnosis a severe fat storage disorder that can lead to liver disease in infancy and neurological dysfunction starting in childhood or early adult life.

5 May 2016

New method could help scientists better predict disease-causing mutations in people's genes

Two researchers at the University of Tennessee, Knoxville, have developed a method that could help clinicians and scientists better predict which mutations in people's genes could cause a disease and which would remain dormant.

18 Feb 2016

Vtesse reports preliminary results from VTS-270 Phase 1 trial for treatment of Niemann-Pick Disease Type C

Vtesse, Inc. announced preliminary results today from an open-label Phase 1 clinical trial with VTS-270 (a formulation of (2-hydroxypropyl)-beta-cyclodextrin) for treatment of Niemann-Pick Disease Type C (NPC) conducted by researchers at the National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development.

6 Aug 2015

Clinical trial to evaluate cyclodextrin against Niemann-Pick disease type C1

A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start today, researchers announced.

24 Jan 2013

Study reveals technique that allows scientists to watch lipid metabolism in live zebrafish

In mammals, most lipids are absorbed into the body via the small intestine. The complexity of the cells and fluids that inhabit this organ make it very difficult to study in a laboratory setting. New research from Carnegie's Steven Farber, James Walters and Jennifer Anderson reveals a technique that allows scientists to watch lipid metabolism in live zebrafish. This method enabled them to describe new aspects of lipid absorption that could have broad applications for human health.

29 Jun 2012

Gene therapy may help correct molecular flaws that cause brain disease

Neuroscientists have forged an unlikely molecular union as part of their fight against diseases of the brain and nervous system.

9 Jan 2010