Synopsis:

Niemann-Pick type C (NPC) is the fifth most common lysosomal disorder in Australia and a known cause of childhood dementia. However, a lack of awareness and clinical understanding of this complex condition is a major barrier to identifying, diagnosing and caring for individuals living with NPC.

In 2024, the Australian NPC Disease Foundation funded the NPC Care and Guidelines Project. They collaborated with over 40 clinicians, allied health professionals and community members to develop an Australia-wide standard of care for patients and families affected by NPC. The key outputs included 23 consensus statements, a diagnostic algorithm, and a multidisciplinary team framework.

For the first time, we have defined a new standard of care for the recognition, diagnosis, and management of NPC in Australia. This published resource will equip clinicians and allied health professionals with information to guide their care approach, fostering a more efficient and consistent healthcare experience for families. It will also empower families and caregivers to advocate for their own care and support needs.

Speakers:

Ellie Van Velsen coordinated the NPC Standard of Care Project at the Australian Niemann-Pick Disease Foundation (ANPDF). Holding a Master of Genomics and Health, and drawing on both lived family experience with Niemann-Pick disease and a background in disability support, she is passionate about inclusive community engagement and improving outcomes for Australians living with rare diseases.

Dr Sharmila Kiss is a Metabolic Physician at The Royal Children’s Hospital Melbourne with a special interest in liver transplantation for inborn errors of metabolism. She provides specialist care for children with rare metabolic conditions, with a focus on improving long-term outcomes through early diagnosis and targeted therapy. Her research spans a range of rare disorders, and she is actively involved in departmental quality improvement projects and guidelines development. Sharmila plays a key role in teaching medical staff across the hospital and external centres. Her approach to care is collaborative and family-centred, grounded in a commitment to advancing outcomes for children with inherited metabolic diseases.

Deanna Carpino is the president of the Australian NPC Disease Foundation. She is a passionate advocate for patient and families impacted by NPC, and supports crucial national and international collaborations with clinicians, researchers and community partners to better the lives of people living with the disease.