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.
Tchan et al. (Fri,) studied this question.