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For Researchers

Resources and links for Australian Niemann-Pick disease researchers.

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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

Niemann-Pick Disease Type C (NPC) is considered an ultra-rare disease, with an estimated prevalence of 1 in 120,000 to 1 in 150,000 live births worldwide. Some countries, such as France, report prevalence rates as high as 1 in 90,000.


In Australia, NPC has an estimated prevalence of around 1 in 100,000 to 1 in 150,000, which is consistent with global estimates for ultra-rare diseases. Exact numbers are difficult to confirm due to underdiagnosis and limited awareness.

Reference: Patterson, M.C., et al., Orphanet Journal of Rare Diseases, 2013.

Age of Diagnosis and Diagnostic Delay

Onset age varies widely, but the average age of diagnosis is around 10 years. However, NPC can manifest at any age, from early infancy to adulthood. Many NPC patients in Australia experience diagnostic delays of up to 6 years due to the rarity of the disease and lack of specific symptoms.

Reference: Patterson, M.C., Orphanet Journal of Rare Diseases, 2013.

Life Expectancy

NPC's life expectancy varies, but many patients do not live beyond the age of 30, with a median survival age in the range of 10 to 25 years if diagnosed in early childhood.

Reference: Mengel, E., et al., Orphanet Journal of Rare Diseases, 2020.

Carrier Frequency and Family Impact

Carrier frequency for NPC is estimated at 1 in 100. Many NPC families have multiple children affected, and there is an increasing focus on early genetic screening within at-risk families.

Reference: Vanier, M.T., et al., Journal of Medical Genetics, 1997.

Newborn Screening and Genetic Testing

Australia does not currently include NPC in its newborn screening program, though patient groups and researchers are advocating for the inclusion of NPC markers in newborn screening panels to enable early intervention.

Reference: Royal Australasian College of Physicians (RACP), 2021.

Current Treatments in Australia

Miglustat is the only treatment available to some NPC patients in Australia. However, access is limited and off-label, meaning it is not approved by Australia's Therapeutic Goods Administration (TGA) specifically for NPC. Many patients still rely on compassionate-use programs and imported therapies.

Reference: Therapeutic Goods Administration (TGA), 2023; Zevra Therapeutics.


Access the International Niemann-Pick Disease Registry


Go to 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


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