Australian NPC Disease Foundation

The Australian NPC Disease Foundation (ANPDF) is a small, registered charity dedicated to making a positive difference to the lives of those affected by Niemann-Pick type C Disease (NPC). Also known as “Childhood Alzheimer’s”, NPC is a genetically inherited lipid storage disease that can present in infants, children or adults with a fatal prognosis. Due to the mutated NPC1 or NPC2 gene, cholesterol and other fatty substances are unable to be processed in a person afflicted with NPC. This leads to increasingly toxic quantities in each organ, with particularly damaging effects in the Central Nervous System.

This neuro-degenerative disease slowly robs people (of all ages) of their motor skills and mental health. The highly variable and long list of symptoms includes seizures, dementia, and the inability to speak or walk. The symptoms may appear as early as a few months of ages or as late as adulthood. Since the symptoms are non-specific to the disease, it is common for a family to spend several years seeking a diagnosis before NPC is identified.

Objectives of the Australian NPC Disease Foundation
– Provide an NPC-specific patient support group in Australia, where none had previously existed. We host an annual conference in Melbourne and continue to increase our online presence to provide better access to families and patients and provide financial support wherever possible.
– Advocate for Clinical Trials in Australia. Majority of available trials do not make it to our shores. ANPDF has been instrumental in gaining key treatments like Miglustat (Mar, 2010) and Cyclodextrin (extended in 2017) available to Australians.
– Increase funding scientific research for a treatment that will delay or halt NPC. In an alliance with the Florey Institute of Neuroscience and Mental Health, we have set clear parameters towards a potential treatment that in its most hopeful outcome, is deliverable to clinical trials within 10 years.
– Decrease diagnostic time, thereby increasing time available for treatments. By hosting networking events in Australia for the scientific and medical community.
– Advocate regulatory change alongside other organisations. ANPDF continues to lend a voice towards reiterating the need for a healthcare system that is also ‘Fair for Rare’.

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