Pfrieger's Digest | Issue 14 - May – August 2025

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Sep 25
2 min read

Photo of Frank W. Pfrieger, PhD — Frank W. Pfrieger, PhD

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 (+22 from prev) publications on NPC and 37 (+7 from prev) on ASMD. Highlights include:

🧠 New Clues for the Brain

Neuron-Specific Enolase (NSE): A new biomarker may help track NPC progression more accurately.

MRI Breakthroughs: Brain scans are showing promise for earlier diagnosis and monitoring.

👶 Early Detection

Newborn Screening Data: Italian researchers estimate NPC may affect 1 in 137,506 births—helping refine global awareness.

🐭 Better Models, Better Hope

Humanized NPC1 Mouse: A new mouse model mimics human NPC more closely, improving drug testing and research accuracy.

💊 Treatment Buzz

Dipyridamole: This repurposed drug showed partial success in mice—offering a new angle for symptom relief.

Gene Therapy & mRNA: Scientists are diving deeper into these cutting-edge approaches, with potential long-term benefits.

📋 Registries Matter

Patient registries are getting more attention—they’re key to understanding the disease and guiding future trials.

💬 Final Thought

Every study adds a piece to the puzzle. While there’s no cure yet, the pace of discovery is accelerating. Stay connected, stay hopeful, and know that the global research community is working hard for you.

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: