As the name suggests, a rare disease is one that affects very few people – approximately 5 in every 10,000 Australians. However while a disease may be rare, people with rare diseases are not. An estimated 6.8% of Australians are affected by a rare disease.1
Menarini Australia’s work in the area of rare diseases is currently focused on the treatment of Hereditary Tyrosinaemia type 1 (HT-1) a life threatening condition affecting males and females in equal numbers. Globally, the prevalence is estimated to be 1 in 100,000 to 120,000 births, or up to 3 per year in Australia.2,3 HT-1 is present at birth and, if left untreated, may lead to severe liver disease.2 Menarini Australia is supporting the management of HT-1 through the provision of a specialised medicine or “orphan drug”. Without access to such a treatment, HT-1 could result in the patient requiring a liver transplant or in the worst circumstances, lead to premature death.
Orphan drugs are defined by the Therapeutic Goods Administration (TGA) as a medicine, vaccine or in vivo diagnostic agent that is:
- intended to treat, prevent or diagnose a rare disease; or
- not commercially viable to supply to treat, prevent or diagnose another disease or condition.
The quality, efficacy and safety of orphan drugs to treat rare diseases are assessed at the same standard as for other registered medicines.
If you have any concerns or questions about your health, please consult your doctor.
- Rare Voices Australia (RVA) rarevoices.org.au (accessed on 29 March 2016)
- National Organisation for Rare Disorders (NORD) http://rarediseases.org/ (accessed on 29 March 2016)
- Births Australia 2014 http://www.abs.gov.au/ausstats/abs@.nsf/mf/3301.0 (accessed 29 March 2016)