type c news

Research News - Type C

University of Washington Research Study

Neurodegenerative Diseases in Family Members of Patients with

Niemann-Pick Disease Type C

The final Lay Summary Progress Report from graduate nursing student at the University of Washington, and NPC Mum, Karen Quandt has been completed and the results are listed here. If you require any further information please refer to Karen's initial survey document: http://www.nnpdf.org/familyservices_15.html

Email: kquandt@u.washington.edu

.......Read the Progress Report

Click here to read The natural history of Niemann–Pick disease type C in the UK article

Dr Porter’s Natural History Trial in America – the Merits of AttendingOur son, William, was diagnosed with NPC just over 5 years ago at the age of 9 months. Ever since the diagnosis, we have been strong believers in the merits of developing a database containing relevant information about the progress of the disease in patients with NPC. Therefore we were very excited to read about the natural history trial by Dr Forbes Porter in America. (“Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, type C”).....

Chemical Chaperones - the way forward for NPC?In a recently published article from Washington University in St. Louis, researchers propose a new treatment approach for NPC.
The article talks about a discovery that has led researchers to suggest that chemical compounds could potentially “chaperone” mutant protein molecules though cells. The chemical compounds, which act as chaperones, allow the mutant protein to pass through the cells quality control system, and do its job of moving cholesterol out of cells.