Pfrieger's Digest | Issue 12 - August 2024 – December 2024
Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.
By Frank W. Pfrieger, PhD
Institute of Cellular and Integrative Neurosciences
Centre National de la Recherche Scientifique / University of Strasbourg
Strasbourg, France
Read the full article here:
The latest Pfrieger’s Digest covers key research on Niemann-Pick diseases, including 82 publications on NPC and 37 on ASMD. Highlights include studies on biomarkers like neuron-specific enolase and lysosphingolipids, advancements in patient registries, and breakthroughs in animal models. Key findings:
MRI biomarkers may improve NPC diagnosis.
Newborn screening in Italy suggests NPC incidence is 1 in 137,506 births.
Novel treatments, such as dipyridamole, show partial success in improving NPC symptoms in mice.
A humanized NPC1 mouse model opens doors to better preclinical research.
Patient registries are highlighted as critical for understanding rare diseases.
Please feel free to distribute and forward this issue, and to send feedback to: fw-pfrieger@gmx.de or frank.pfrieger@unistra.fr
Support research for a cure of Niemann-Pick disease type C in Australia:
Shop at our online NPC store
Fundraise your way! Check our free resources and inspo online
Comments