Australia’s First Standard of Care for Niemann–Pick Disease Type C Featured at RCH Grand Rounds
The Australian NPC Disease Foundation (ANPDF) was proud to join The Royal Children’s Hospital Melbourne for a recent Grand Rounds presentation highlighting Australia’s first Standard of Care for Niemann–Pick disease type C (NPC).
Presented by Ellie Van Velsen, Dr Sharmila Kiss and ANPDF President Deanna Carpino, the session explored why the Standard of Care was needed, how it was developed and what it could mean for people living with NPC and their families.
Addressing gaps in NPC care
NPC is a rare, progressive genetic condition and a known cause of childhood dementia. Its symptoms can vary considerably between individuals and may appear at different ages, making the condition difficult to recognise and diagnose.
Limited awareness and clinical understanding can contribute to delays in diagnosis, fragmented care and significant pressure on families as they navigate a complex healthcare system.
To help address these challenges, ANPDF funded the NPC Care and Guidelines Project in 2024. The project brought together more than 40 clinicians, allied health professionals and community representatives from across Australia.
Their combined expertise and lived experience informed the development of an Australian Standard of Care tailored to our healthcare system.
What does the Standards of Care include?
The published framework provides practical guidance to support the recognition, diagnosis and ongoing management of NPC. Its key components include:
Consensus-based guidance for clinicians and allied health professionals
A diagnostic algorithm to help support earlier identification and referral
A multidisciplinary care framework
Guidance for managing NPC across different ages and stages of the condition
Recognition of the importance of shared decision-making and the experiences of patients, families and carers
For families, the Standard of Care provides a clearer understanding of what coordinated NPC care should look like. It can also help families and carers advocate for appropriate referrals, multidisciplinary support and informed decision-making.
For health professionals, it offers an Australia-specific resource to guide care and improve consistency between services and states.
A collaborative achievement
This project would not have been possible without the clinicians, allied health professionals, researchers, families and carers who generously contributed their knowledge, time and experience.
The Standard of Care was funded by ANPDF through community donations. It demonstrates what can be achieved when medical expertise and lived experience come together around a shared goal: improving care and outcomes for Australians living with NPC.
Publication of the Standard of Care is an important milestone, but it is also the beginning of the next stage. ANPDF will continue working with healthcare professionals, hospitals and community partners to support awareness, adoption and practical implementation across Australia.
Watch the Grand Rounds presentation
The full presentation, An Australian Standard of Care for Niemann–Pick Disease Type C, is available through The Royal Children’s Hospital Grand Rounds Online. Click the button below or click here.
You can also read the published Standard of Care and access further information through the ANPDF website.
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