Niemann-Pick disease Type C (NPC) is a rare genetic disorder, occurring in approximately 1 in 100,000 live births. It is an autosomal recessive, lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes. These mutations lead to lysosomal and mitochondrial dysfunction, resulting in progressive neurodegeneration.
NPC is a heterogenous disease characterized by neurological, systemic, and psychiatric manifestations, resulting in significant functional and cognitive impairment.
The entire central nervous system is typically affected in NPC. Neuronal dysfunction and death causes damage throughout the brain, resulting in a variety of serious and debilitating physical and cognitive symptoms often resulting in premature death.
The course of NPC varies highly from patient to patient depending on the age of onset of neurological symptoms, from a rapidly progressing neonatal form to an adult-onset chronic neurodegenerative condition. Individuals whose neurological symptoms begin in early childhood generally have a faster disease progression than individuals whose symptoms begin later in life. The impact of NPC on affected individuals and their caregivers is often profound regardless of disease severity.
NPC is a serious, debilitating, progressive, neurodegenerative condition.
There are currently no FDA approved therapies to treat NPC. Management strategies focus on symptomatic relief and improving quality of life. This includes the use of medications to control neurological symptoms, physical therapy, and supportive care.
The International Niemann Pick Disease Alliance (INPDA) is a global network of non-profit organizations, supporting persons affected by Niemann Pick diseases (NPD). Currently, there are member organizations from 19 countries.
For additional support and resources, and to find a local Niemann-Pick disease patient organization, please visit www.inpda.org
Development of IB1001 for the Treatment of NPC
IntraBio’s lead drug candidate, IB1001, is an investigational drug that is currently being evaluated for the potential treatment of Niemann-Pick disease Type C.
Publications
For publications on non-clinical and clinical data on IB1001, please click here.
To stay connected with IntraBio and receive the latest updates on our research, clinical trials, and other initiatives by opting in to our mailing list. By joining, you will be part of a community dedicated to advancing the understanding and treatment of NPC.
Sign up to receive our newsletter and stay informed about:
• Updates on the development of IB1001
• Opportunities to participate in clinical trials
• Information on upcoming events and webinars
• News and articles on NPC research and advocacy
