New Australian Clinical Guidelines for Niemann-Pick Disease Type C Published

Melbourne, Australia – April 23, 2026

The Australian NPC Disease Foundation is proud to announce the publication of Australia’s first national clinical guidelines for Niemann-Pick disease type C (NPC).

This milestone marks an important step forward in improving the recognition, diagnosis and care of individuals living with NPC across Australia.

A collaborative national effort

In 2024, ANPDF funded the NPC Care and Guidelines Project, bringing together more than 40 clinicians, allied health professionals and members of the NPC community. This collaborative effort, led by Ellie Van Velsen, has resulted in a comprehensive, Australia-specific standard of care.

The guidelines include:

• 23 consensus recommendation statements

• A diagnostic algorithm to support earlier identification

• A multidisciplinary care framework to guide ongoing management

  
  

Together, these outputs aim to provide a consistent and informed approach to NPC care across the country.

Why these guidelines matter

NPC is a rare, complex condition and a recognised cause of childhood dementia. Despite this, awareness remains limited, and many individuals experience significant delays in diagnosis.

These new guidelines have been developed to:

• Support clinicians in recognising and diagnosing NPC earlier

• Provide clear, standardised approaches to care and management

• Improve coordination between healthcare professionals

• Enhance the overall healthcare experience for patients and families

  
  

Importantly, the project has incorporated the perspectives of families and carers, recognising their key role in care and decision-making. To view the published paper by Tchan et al., 2026, click here

Empowering families and strengthening care

Beyond supporting healthcare professionals, these guidelines are also a valuable resource for families. By increasing understanding of NPC and the recommended care pathways, individuals and caregivers are better equipped to advocate for their needs within the healthcare system.

“These guidelines give those who live with NPC disease and their families a lifeline when it comes to diagnosis treatment and needs for those affected” said Mandy Whitechurch, Founder and immediate past president. “It gives medical professionals who are uneducated about NPC a process to follow to ensure all patients are aligned with services needed”.

Looking ahead

ANPDF is currently working on developing additional community-friendly resources to support families in understanding and using the guidelines in everyday care.

If you have any questions about the guidelines or would like to learn more about this project, please reach out to the team at: projects@NPCD.ORG.AU

About ANPDF

The Australian NPC Disease Foundation is dedicated to supporting individuals and families affected by NPC, while advancing research, awareness and improved standards of care across Australia.

About the Project

The NPC Care and Guidelines Project was created to address the significant information gap in the Australian literature about how to identify, diagnose and manage NPC within the Australian healthcare context. Funded by community donations, this project aimed to create resources that could lead to more efficient, supportive and reliable healthcare experiences for Australian patients living with NPC and their families.

Please note, the standard of care provides consensus recommendations made by clinicians, families and current literature. It should not substitute for government-approved or personalised healthcare advice from a medical professional.