According to the World Health Organization (WHO), a condition is classified as a rare disease if it affects fewer than 1 in 2,000 people in a given WHO region. A recent Lancet Global Health editorial (2024) highlights that there are over 7,000 rare diseases, collectively affecting approximately 300 million people worldwide.
In Australia, an estimated 8% of the population (2 million people) live with a rare disease, with the majority being genetic in nature. Some of the more well-known rare diseases include cystic fibrosis, sickle cell disease, Duchenne muscular dystrophy, and Huntington’s disease. Nurses across all specialties encounter patients with rare diseases and play a crucial role in supporting them and their families.
Bridging the gap: The need for research and treatment
One of the greatest challenges in rare disease care is the lack of disease-modifying treatments and limited research funding. Due to the low patient numbers, pharmaceutical companies may hesitate to invest in clinical trials and drug development, as they are less profitable compared to treatments for more common conditions.
However, progress is being made. The Orphan Drug Act (1983) in the United States provides tax credits and research grants to encourage the development of rare disease treatments. In Australia, the National Strategic Action Plan for Rare Diseases (2020) was introduced, focusing on three key pillars:
- Awareness and education
- Care and support
- Research and data
To further support research, the Medical Research Future Fund (MRFF) and National Health and Medical Research Council (NHMRC) have launched the Clinical Trials Activity Initiative, committing $750 million over 10 years to increase clinical trial activity in Australia, with a focus on rare cancers, rare diseases, and unmet medical needs (Australian Government Department of Health and Aged Care, 2022).
Clinical trials: A Lifeline for rare disease patients
For many rare disease patients, clinical trials provide a glimmer of hope. These trials test new or repurposed treatments, offering opportunities to improve patient outcomes and advance medical knowledge.
Clinical Research Nurses (CRNs) play a pivotal role in these trials, combining specialist nursing care with clinical trial coordination expertise. They ensure patient safety, support families, and collaborate with researchers to facilitate groundbreaking studies.
On Rare Disease Day – 28 February 2025 – we not only recognise the resilience of those living with rare diseases but also celebrate the incredible nurses who care for them, including Clinical Research Nurses within our community.
Building the future of clinical research nursing
A recent NurseClick article by Lele Xu MACN (2024) explored the critical role of Clinical Research Nurses and their advanced expertise in both clinical nursing and research methodologies (Australian College of Nursing, 2022). CRNs are essential in ensuring that clinical trials are conducted safely and ethically, helping to bring new treatments to those who need them most. More information on the CRN role can be found in the Australian Standards for Clinical Research Nurses, published by the ACN in 2022. The ACN Clinical Research Nurses Faculty is committed to enhancing the profile of CRNs and advocating for their unique role in health care.
To better understand the size, qualifications, and expertise of the CRN and Clinical Research Midwife workforce in Australia, a group of CRNs has launched an online workforce survey. If you or someone you know works as a Clinical Research Nurse or Midwife, please participate in the survey to help shape the future of clinical research policy in Australia.
Join us in raising awareness on Rare Disease Day
As of 2025, over 106 countries will take part in 600+ events worldwide to raise awareness for rare diseases (Rare Disease Day, 2025). Join us on 28 February 2025 in celebrating Rare Disease Day, advocating for better treatments, more research, and greater support for people living with rare diseases.
References
Australian College of Nursing. (2022). Clinical research nurse (CRN): Australian standard for practice. https://www.acn.edu.au/wp-content/uploads/clinical-research-nurse-standards.pdf
Australian Government Department of Health. (2020). National Strategic Action Plan for Rare Diseases. https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf
Australian Government Department of Health and Aged Care. (2022). What we’re doing about rare diseases https://www.health.gov.au/topics/chronic-conditions/what-were-doing-about-chronic-conditions/what-were-doing-about-rare-diseases
Australian College of Nursing.(2023). Eliminating rare diseases – a day in the life of a clinical research nurse. https://www.acn.edu.au/nurseclick/eliminating-rare-diseases-a-day-in-the-life-of-a-clinical-research-nurse.
Australian College of Nursing. (2024). How to become a clinical research nurse. https://www.acn.edu.au/nurseclick/how-to-become-a-clinical-research-nurse
The Lancet Global Health. (2024). The landscape for rare diseases in 2024. The Lancet. Global Health 12(3), e341. DOI: 10.1016/S2214-109X(24)00056-1
Rare Disease Day. (2025). Downloads. https://www.rarediseaseday.org/downloads/
