Niemann-Pick Type-C Disease is a life-threatening degenerative illness that primarily affects the brain and liver. People with this disease are not able to dispose of healthy cholesterol in their body, leading to progressive cell death and major health complications. Australia’s National Recommendations for Rare Disease Health Care recommends that healthcare professionals should follow set disease ...
Australian NPC Disease Foundation
Niemann-Pick Type-C Disease National Care and Management Guidelines

GOAL
$15,000
Field of Interest
- Health/wellbeing and medical research
- Individual/family services and support
Target Population
- People with a disability, illness or disease
- Professional workforce

The Australian NPC Disease Foundation (ANPDF) is a small, registered charity dedicated to making a positive difference to the lives of those affected by Niemann-Pick type C Disease (NPC). Also known as “Childhood Alzheimer’s”, NPC is a genetically inherited lipid storage disease that can present in infants, children or adults with a fatal prognosis. Due to the mutated NPC1 or NPC2 gene, cholesterol and other fatty substances are unable to be processed in a person afflicted with NPC. This leads to increasingly toxic quantities in each organ, with particularly damaging effects in the Central Nervous System.
This neuro-degenerative disease slowly robs people (of all ages) of their motor skills and mental health. The highly variable and long list of symptoms includes seizures, dementia, and the inability to speak or walk. The symptoms may appear as early as a few months of ages or as late as adulthood. Since the symptoms are non-specific to the disease, it is common for a family to spend several years seeking a diagnosis before NPC is identified.
Objectives of the Australian NPC Disease Foundation
- Provide an NPC-specific patient support group in Australia, where none had previously existed. We host an annual conference in Melbourne and continue to increase our online presence to provide better access to families and patients and provide financial support wherever possible.
- Advocate for Clinical Trials in Australia. Majority of available trials do not make it to our shores. ANPDF has been instrumental in gaining key treatments like Miglustat (Mar, 2010) and Cyclodextrin (extended in 2017) available to Australians.
- Increase funding scientific research for a treatment that will delay or halt NPC. In an alliance with the Florey Institute of Neuroscience and Mental Health, we have set clear parameters towards a potential treatment that in its most hopeful outcome, is deliverable to clinical trials within 10 years.
- Decrease diagnostic time, thereby increasing time available for treatments. By hosting networking events in Australia for the scientific and medical community.
- Advocate regulatory change alongside other organisations. ANPDF continues to lend a voice towards reiterating the need for a healthcare system that is also ‘Fair for Rare’.
Project Summary
Niemann-Pick Type-C Disease is a life-threatening degenerative illness that primarily affects the brain and liver. People with this disease are not able to dispose of healthy cholesterol in their body, leading to progressive cell death and major health complications.
Australia’s National Recommendations for Rare Disease Health Care recommends that healthcare professionals should follow set disease care standards for diagnosis and ongoing care of people living with rare diseases. Best practice guidelines are critical to minimise time to diagnosis and maximise possible health. NP-C Disease has an international clinical management guideline published by Geberhiwot et al., (2018) that provides treatment and care management recommendations for people living with the condition. Unfortunately, these guidelines do not factor in the Australian healthcare system, currently approved treatments or NDIS programs. Therefore, the current guidelines of care cannot be adhered to as they are not entirely relevant to an Australian context.
This project aims to improve the quality of life for those affected by NP-C disease in Australia by developing and publishing national disease management guidelines for Niemann-Pick Type-C (NP-C) disease, tailored to the Australian healthcare system.
The primary objectives are:
– Create a comprehensive, locally relevant resource for NP-C management.
– Ensure consistent diagnosis and care across all Australian states and territories.
– Minimize time to diagnosis and maximize health outcomes for NP-C patients.
– Align with Australia’s National Recommendations for Rare Disease Health Care.
– Address gaps in current international guidelines by incorporating Australian healthcare specifics, approved treatments, and NDIS programs.
It will involve a collaboration of muti-disciplinary health professionals, with the primary aim of creating and publishing disease management guidelines that will be utilised in all Australian states and territories. This resource will be a national reference for the management of NP-C cases and can lead to more consistent diagnosis and care Australia-wide.
This project will draw upon various resources such as current research, patient experience, clinician experience, current international guidelines and external resources to create the final manuscript.
Project Outcomes
The NPCD National Care and Management Guidelines project aims to address some critical challenges faced by the patient community with two primary outputs.
OUTCOME 1. A ‘position statement’ that outlines a suggested Australian Care Guideline for NP-C Disease diagnosis and management. Submitted for publishing in a nominated academic journal.
Target audience: General practitioners, Paediatricians or other health professionals who may manage new and existing patients with NP-C Disease
The document will be written according to the academic criteria for a position statement. This type of academic article was chosen as it does not require a literature review or collection of original data and allows for consensus-based, evidence-supported recommendations to be made.
It is of the utmost importance that the published guideline is accessible to all health professionals. The document will ideally be 10 pages or less and will include figures/tables.
OUTCOME 2. English Summaries of the Care Guidelines for publication on the ANPDF website
Target audience: Families and people living with Neimann-Pick Type C.
The resource will be created with collaboration with the community engagement group. It will aim to meet the community’s need for public, evidence-based, and readable information about condition identification and management.
Sub-resources:
- English summary – two page summary addressing specific needs for NP-C Community to be given to their Health Professionals.
- Short Summary – one to two pages written for General Practitioners or other Health Professionals. (The document must be max 5 pages, with at least two visual aids.)
When these documents are released, they will play a pivotal role in fostering a more predictable and reliable healthcare experience for patients. By equipping healthcare professionals with valuable information, these guidelines aim to empower them in their care practices. Additionally, their broader dissemination within the medical community will contribute significantly to raising awareness about Niemann-Pick disease, ultimately benefiting patients and their families.
Budget Breakdown
TOTAL BUDGET: $42,625
FUNDING
Funding source | Amount |
---|---|
Annual Fundraiser (confirmed) | $15,000 |
Donations (unconfirmed) | $12,625 |
Funding gap (unconfirmed) | $15,000 |
EXPENSES
Expense item | Amount |
---|---|
Project Coordinator | $26,400 |
Medical Writer | $10,725 |
Journal Review | $5,000 |
Document distribution and hosting | $500 |
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