Rare disease clinical trials present unique challenges due to the limited number of patients available for study, the lack of prior research and knowledge, and the often severe and complex nature of these conditions. For Niemann-Pick Type C, it is exceptionally difficult because the disease may affect patients differently.

A biomarker is a measurable substance in biological samples found in the body that can provide information about a biological or disease process. Examples of biomarkers include the measurement of blood glucose levels for diabetes or levels of specific proteins like PSA for prostate cancer. They play a pivotal role in addressing the challenges in assessing disease progression in Niemann-Pick Type C, and we are on the hunt to identify these biological markers for NPC patients.

Recently, the Parseghian Fund supported a mass spectrometry discovery project to analyze protein changes from over 300 NPC patient samples. Additionally, there has been much analysis on a few key potential NPC biomarkers that include Neurofilament light chain, calbindin D, and 24(S) hydroxycholesterol.

On November 17, 2023 the Parseghian Fund held a Biomarker Workshop and brought in speakers from the FDA and the Critical Path Institute along with NPC biomarker experts, and hosted a Q&A session with this panel to discuss next steps. From this meeting, we outlined a promising path forward to develop biomarkers for NPC disease.  Below is the video from the workshop.

In the Summer of 2024, the APMRF funded a $1.5 Million grant to the Critical Path Institute (C-Path) to analyze a subset of biomarkers for NPC disease. Specifically, the grant will support the identification of gaps in existing data to enhance the understanding of NPC disease progression and evaluate Neurofilament Light Chain (NfL) and 24-hydroxycholesterol (24S-HC) for their potential as drug development tools.