Research
The National Niemann-Pick Disease Foundation (NNPDF) is at the forefront of advancing research and supporting efforts to discover effective treatments and a cure for Niemann-Pick Disease. This rare genetic condition, encompassing Acid Sphingomyelinase Deficiency (ASMD) and Niemann-Pick type C (NPC) affects the body’s ability to metabolize lipids, leading to progressive and often debilitating symptoms. NNPDF’s work has included funding innovative research, fostering collaboration among scientists, and advocating for the development and approval of life-changing therapies.
Recent progress has brought significant hope to the Niemann-Pick community with the approval of groundbreaking treatments. Xenpozyme® (Olipudase Alfa) has been approved for the treatment of Acid Sphingomyelinase Deficiency (ASMD), providing a much-needed option for managing this disease. Additionally, therapies including Aqneursa (IB1001) and Miplyffa (arimoclomol) have been developed to address critical aspects of Niemann-Pick Disease type C, offering new avenues for care and management. These advancements highlight the importance of NNPDF’s funding and advocacy efforts in driving research from the lab to the clinic.
NNPDF’s dedication extends beyond treatment approvals, as the foundation continues to support clinical trials and patient registries that pave the way for future breakthroughs. By working closely with families, researchers, and industry leaders, NNPDF is creating a brighter future for those affected by Niemann-Pick Disease, ensuring that no family faces this journey alone.
Donation of Biological Samples to Assist with Research
Many families ask what they can do to help move research forward more quickly. One, of course, is to raise funds – research is expensive and every little bit helps! Another important way to help, however, and one that only the patients and families can do, is to donate biological samples for use in the research studies. This might include blood or skin cell samples taken at the time of diagnosis or other medical procedures, or blood, skin cell and tissue samples taken at the time of a surgery or at time of death.
The National Niemann-Pick Disease Foundation has worked with several programs and organizations where donations will be accepted, depending upon which type of NPD affects the donor. Please select one of the following links to learn more about how to arrange a donation and review the documents that will need to be completed to allow for sample collection.