This shared space outlines all current community NPC Initiatives.
These collaborative approaches to gather information are important NPC researchers, the development pipeline, and are critical in areas such as the diagnosis of NPC patients and the development of clinical trials.
Community Initiatives
Biomarker Initiative
Biomarkers that accurately track NPC disease progression, response to therapies, and can help assess the severity of specific gene mutations are not currently available (or not used as an approved clinical evaluation metric)
The goal of this initiative is to identify biomarkers for NPC disease, ideally from blood or other peripheral fluids, that will provide information about the health of the central nervous system and accurately track disease progression and respond to therapies.
NPC Newborn Screening Initiative
This group is led by the Firefly Fund in collaboration with a working group of foundations, NPC families, Industry partners, and Clinicians and is utilizing a Bile Acid Test to detect NPC disease in newborns. A pilot study is set to start in the NYC area led by Dr. Melissa Wasserstein. Learn more by clicking on the Website link.
International Niemann-Pick Disease Registry
The purpose of the INPDR is to develop and sustain a unique patient-led database that supports research and therapy development, and improves care and treatment for Niemann-Pick Disease patients through global collaboration.
Patient-Focused Drug Development
The Niemann-Pick Type C externally led Patient-Focused Drug Development (PFDD) meeting is a groundbreaking initiative that will give persons with NPC disease and their advocates the opportunity to provide the Food and Drug Administration, drug developers, and NPC stakeholders with perspectives from our community on a number of important issues.
NPC Natural History Data
Natural History Study for NPC disease is an ongoing study at the NIH. This information is valuable as an alternative to identify the effectiveness of therapies, procedures and potentially to identify biomarkers for NPC patients. Please contact Dr. Denny Porter to learn more.