An Australian standard of care for Niemann–Pick disease type C
Year: 2026
Type: article
Abstract: BACKGROUND: Niemann-Pick disease type C (NP-C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state-based newborn screening programmes. A formal diagnosis, once established, places a substantial burden on the whole family, the negative impact of which is far-reaching. A clear understanding of diagnostic pathways and management objectives in NP-C is critical for optimal care. AIMS: To develop an Australian standard of care for individuals diagnosed with NP-C and their families, reflecting international best practice and tailored to the Australian healthcare system. METHODS: The Australian NPC Disease Foundation Inc. convened a national, multidisciplinary collaboration including NP-C treating clinicians, allied health professionals and a community advisory group. Using an iterative consensus approach, published international guidance statements were reviewed, ratified, excluded or modified to align with the Australian context. RESULTS: Consensus outputs included a diagnostic algorithm, a multidisciplinary care framework and management-centred management statements. The collaborative process resulted in a unified Australian standard of care for NP-C. This framework incorporates the carer perspective, emphasises shared decision-making and situates NP-C within the broader context of 'childhood dementias.' Consensus statements provide practical, evidence-aligned guidance on early recognition, diagnostic referral pathways and multidisciplinary management throughout disease progression. CONCLUSIONS: This initiative represents the first Australia-specific standard of care for NP-C. It is hoped that adoption of the framework will lead to improved experiences for Australians living with NP-C and their carers as they navigate the healthcare setting.
Source: Internal Medicine Journal
DOI: 10.1111/imj.70370
Authors: Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang
Institutions: Westmead Hospital, Women's and Children's Hospital, Women's and Children's Health Network, The University of Adelaide, Royal Children's Hospital, The University of Sydney, Sydney Children's Hospital, Sydney Children’s Hospitals Network, Children's Hospital at Westmead, The University of Western Australia, Princess Margaret Hospital for Children, Perth Children's Hospital, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, The University of Melbourne, Florey Institute of Neuroscience and Mental Health, The Royal Melbourne Hospital
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $3,570
OpenAlex ID: W7135175396