APMRF is underwriting 17 projects for the 2025-26 Grant Funding Program. These support a collaborative group of leading Niemann-Pick Type C scientists from around the world.

Grants funded back a variety of high-impact investigations that include understanding the NPC pathway, the structure of the NPC1 protein, and how NPC proteins traffic cholesterol in and out of the cell.

Additionally, the APMRF is strengthening the expansion of novel tools to assist researchers studying NPC disease, the development of novel therapeutics for the treatment of the disease, and the identification of novel biomarkers that will be used to accelerate the therapeutic development process. We are also enthusiastic about our partnership with the International Niemann-Pick Disease Registry, and we have a current multiyear commitment to support a newborn screen to identify children with NPC disease at birth.

The 2025 funded grantees

• Albert Lu (University of Barcelona)
  Dissecting the role of SNX13 in cholesterol transport and its implications for NPC.

• Suzanne Pfeffer (Stanford University School of Medicine)
  Testing a new model for NPC2 recruitment onto NPC1.

• Rajat Rohatgi (Stanford University School of Medicine)
  Mapping the sequence-function landscape of NPC1 and NPC2 using in situ mutational
  scanning.

• Frances M. Platt (University of Oxford)
  Exploring the NPC1-PMCA2 complex in NPC disease type C

• Elizabeth Berry-Kravis (Rush University Medical Center)
  Expanded access for treatment of NPC using Adrabetadex.

• Chris Patzke (University of Notre Dame)
  Developing a platform to analyze mutations in NPC using human and mouse neurons and
  glial cells.

• Xiaochun Li (UT Southwestern Medical Center)
  Studying how pH and ligands regulate NPC1 in the membrane environment.

• Brian Blagg (University of Notre Dame)
  Operating the Drug Discovery Core to identify promising therapeutic compounds.

• Nan Yan (UT Southwestern Medical Center)
  Targeting TBK1 as a potential treatment for NPC.

• Eamonn Dickson (University of California, Davis)
  Investigating membrane contact site disruption in NPC: new paradigms in neuronal
  cholesterol-calcium signaling.

• Roberto Zoncu (UC Berkeley)
  Dissecting cholesterol-mTORC1 signaling in NPC pathogenesis.

• Daniel Wüstner (University of Southern Denmark)
  Lipid trafficking and metabolism in Niemann Pick type C disease analyzed by correlative fluorescence and mass spectrometry imaging of single cells

• Stephanie Cologna & Swetha Gowrishankar (University of Illinois Chicago)
  Exploring trafficking changes in neuronal lysosomal populations in NPC.

• Mark Schultz (University of Iowa)
  Advancing neuronal functional assays for NPC1 therapy development.

• International Niemann-Pick Disease Registry
  Growing the patient-led International Niemann-Pick Disease Registry in the United States & Canada

• Melissa Wasserstein (The Children’s Hospital at Montefiore)
  Newborn Screen for NPC through Screenplus

• Critical Path Institute
  Qualification of multiple Biomarkers for Niemann-Pick Type C disease