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 2024 Funded Grantees

Monther Abu-Remaileh, Assistant Professor, Stanford - Title: Treatment of Niemann Pick Type C1 Disease with recombinant BMP synthase

Elizabeth Berry-Kravis, Professor, Rush University Medical Center – Title: NPC coordinator and pharmacy fees

Brian Blagg & Warren Family Research Center for Drug Discovery and Development, University of Notre Dame - Title: Chemical Synthesis Core

Ben Calverley, The Scripps Research Institute - Title: Utilizing Artificial Intelligence to Mine Genetic Variation in the NPC1 Population for Corrective Therapeutics

Stephanie Cologna, Associate Professor, University of Illinois Chicago – Title: Determination of Cellular NPC1 Levels

Eamonn Dickson, Associate Professor, UC Davis - Title: Role of neuronal membrane contact site proteins in NPC disease

Xiaochun Li, Associate Professor, UT Southwestern - Title: Structural Investigations on the dynamic and regulation of human NPC1

Fred Maxfield, Professor & Chairman of Biochemistry and Cell & Developmental Biology, Cornell - Title: Systematic examination of the role of chaperones in folding the NPC1 protein

Chris Patzke, John M. and Mary Jo Boler Assistant Professor, Notre Dame - Title: Platform to Analyze Mutations Causing Niemann Pick Type C Disease in Human and Mouse Neurons

Suzanne Pfeffer, Professor of Biochemistry, Stanford University - Title: Modifiers of NPC1-mediated cholesterol export from lysosomes

Frank Pfreiger, Institut des Neurosciences Cellulaires et Integratives: Title - New biomarkers in sight: pathologic changes in the NPC1-deficient retina 

Denny Porter, Senior Investigator, National Institutes of Health – Title:  Investigation of NPC1 phenotypic heterogeneity at the cellular level 

Rajat Rohatgi, Associate Professor, Stanford; Title - Base-editing to investigate and repair Niemann-Pick C1 function

Mark Schultz, Assistant Professor, University of Iowa - Title: Determining the efficacy of proteostatic modulators

Judith Storch, Professor, Rutgers - Title: Translational Potential of LBPA for NPC disease

Charles Vite, Professor, University of Pennsylvania - Support of the NPC1 cat colony for future preclinical trials

Roberto Zoncu, Associate Professor, University of California, Berkeley - Title: Decoding cellular dysfunction in Niemann­Pick type C through functional genomics and organelle metabolomics

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