"An Australian standard of care for
Niemann–Pick disease type C"
Published
These guidelines relate specifically to Niemann-Pick Disease Type C (NPC). Guidance for other Niemann-Pick diseases, including Acid Sphingomyelinase Deficiency (ASMD), may differ.
The Australian Niemann-Pick Disease Type C (NPC) Care Guidelines have now been published in the Internal Medicine Journal.
This publication represents an important milestone for the NPC community in Australia, bringing together clinical expertise and lived experience to support more consistent care for people living with Niemann-Pick Disease Type C.
Citation
Tchan M, Smith N, Peters H, Van Velsen E, Marraffa C, Ellaway C, Cruz K, Mohammad SS, Kava M, Yaplito-Lee J, Balasubramaniam S, Rahman Y, Boot B, Bush A, Munro F, Hamoy L, Hung YH, Johnston P, Carpino D, Williams M, Kiss S, Quin R, Sutherland I, Walterfang M.
An Australian standard of care for Niemann–Pick disease type C.
Internal Medicine Journal. 2026.
https://doi.org/10.1111/imj.70370
About the Guidelines
Niemann-Pick Disease Type C is a rare, progressive genetic condition that affects the body’s ability to process cholesterol and other lipids. The disease affects multiple body systems and is widely recognised as a form of childhood dementia, causing progressive neurological decline.
Because NPC is extremely rare, many clinicians encounter only a small number of patients during their careers. These guidelines aim to provide clear, evidence-informed recommendations to support clinicians in diagnosing and managing NPC.
The guidelines address key areas including:
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recognising early signs and symptoms
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diagnostic pathways
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multidisciplinary care
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management of neurological and systemic complications
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long-term care considerations.
They were developed by Australian clinicians and researchers with expertise in lysosomal storage disorders, with input from the Australian NPC Disease Foundation and the broader Niemann-Pick community.
"I think it’s great that the foundation is doing something so important like this. It’s progress. Every bit counts! This is an important piece and will help our families."
Community Advisory Board Member
Why these guidelines matter
For patients and families, the NPC care guidelines help ensure that:
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clinicians have access to consistent clinical guidance
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care can be better coordinated across specialists
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clinicians are supported in recognising and managing a complex rare disease
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the experiences of patients and families help inform clinical care.
They also provide an important foundation for future clinical education, research and policy discussions relating to NPC in Australia.
Acknowledgement
The Australian NPC Disease Foundation acknowledges the clinicians, researchers and community members who contributed their expertise and lived experience to the development of these guidelines.
We extend particular thanks to the authors and working group whose dedication made this publication possible.
The guideline development was coordinated by Ellie van Velsen, whose leadership and dedication were central to bringing this work to publication.
Implementation and Future Work
The publication of these guidelines is an important step toward improving care for people living with NPC.
The Australian NPC Disease Foundation will continue working with clinicians, researchers and the community to support implementation of the guidelines and develop additional resources.
Future initiatives may include:
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clinician education and awareness resources
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practical tools to support diagnosis and care pathways
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simplified information for families and carers
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policy and advocacy work to improve access to care
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updates as new research and treatments emerge.
Updates and additional resources will be added to this page as they become available.
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