For Researchers
Resources and links for Australian Niemann-Pick disease researchers.
Apply for a Research Grant
Applications are open for review from April to June each year.
Funding for research that is innovative and has a clear relationship to the causes, treatments or cures of Niemann-Pick disease (NPD) or the support of people living with NPD. Innovator Grants support research of up to $50,000 for one year commencing in the calendar year 2025. Only one Innovator Grant application will be permitted per Principal Investigator (applicants can be Co-Investigators on other applications).
Applicants: NPD researchers working in Australia in applied research or fields relevant to the cause, treatment or cure of NPD. Applicants must be an Australian citizen; have permanent resident status; be a citizen of NZ with Australian work rights; or be a foreign researcher with a work visa extending for a minimum of 12-months after the grant concludes.
Grant: Up to $50,000 for one year
Grant Application Open Date: 1st April at 9am AEST
Deadline: 1st June at 6pm AEST
NPD Research Statistics
Genetic Mutation
NPC is primarily caused by mutations in the NPC1 gene (95% of cases) and less commonly by the NPC2 gene (5% of cases). Over 500 mutations have been identified in these genes.
Reference: Vanier, M.T., Biochemistry and Cell Biology, 2010.
Prevalence of NPC
Age of Diagnosis and Diagnostic Delay
Life Expectancy
Carrier Frequency and Family Impact
Newborn Screening and Genetic Testing
Current Treatments in Australia
Access the International Niemann-Pick Disease Registry
Useful Resources
Therapeutic Goods Administration: https://www.tga.gov.au/
Guidelines on the application for drug approvals and clinical trials in Australia
Updates on NPC-related drug policies and compassionate access schemes
Genetic Alliance Australia: https://www.geneticalliance.org.au/
Networking opportunities with other genetic researchers and clinicians
Genetic data and insights to assist in clinical and research studies
National Health and Medical Research Council (NHMRC): https://www.nhmrc.gov.au/
Information on grant and fellowship opportunities for rare diseases, including NPD
Research support and guidance on public health initiatives related to rare diseases
Rare Voices Australia: https://www.rarevoices.org.au/
Insights on rare disease policy and national strategy for rare diseases
Networking events and advocacy for rare disease research funding
International Niemann-Pick Disease Alliance (INPDA): https://www.inpda.org/
Access to international databases and patient registries
Information on global NPC research trends, clinical trials, and treatments
Networking with international researchers and healthcare providers
Orphanet Australia: https://www.orpha.net/
Data on the epidemiology of rare diseases in Australia
Information on ongoing clinical trials and research projects
Links to diagnostic resources and orphan drug policies
Australian Clinical Trials Registry (ACTR): https://www.australianclinicaltrials.gov.au/
Information on existing clinical trials and new study protocols
Resources for setting up clinical trials in Australia
Registry for recruiting NPC patients and reporting trial outcomes
BioGrid Australia: https://www.biogrid.org.au/
Database of genetic and clinical data for rare disease research
Tools for collaborative data analysis across multiple institutions
Secure data storage for research projects and patient registries