Year in Review: Rare disorders
PHARMAC understands that people living with rare disorders in New Zealand face challenges accessing suitable health care, including access to effective medicines.
To improve funded access to medicines for this group of patients, PHARMAC established an expert clinical subcommittee for rare disorders in 2018. This group of experts considers funding applications for medicines that meet PHARMAC’s definition of ‘rare’, which is that the medicine treats a clinically defined disorder affecting less than 1 in 50,000 people in New Zealand.
In July last year, PHARMAC made changes in the treatment of the genetic disorder Gaucher’s disease. Gaucher’s disease is a rare, inherited enzyme deficiency disorder which causes increased quantities of lipids (fats) to build up in the body, leading to a wide variety of symptoms. We changed infusion treatments from imiglucerase (Cerezyme) to taliglucerase alfa (Elelyso), so that patients could have funded access to higher dosing.
In September last year, PHARMAC listed sapropterin (Kuvan), a treatment for phenylketonuria (PKU), for women who are pregnant or planning a pregnancy and require pharmacological support to manage their PKU during their pregnancy.
PHARMAC is committed to continuing our engagement with people who have rare disorders, as well as their representative groups, to better understand their views and continue our work to fund more medicines for people with rare disorders and deliver the best health outcomes for New Zealanders.
PHARMAC staff meet with the New Zealand Organisation of Rare Disorders (NZORD) four times a year to discuss our work in this area. In February this year, senior staff also attended and presented at the NZORD consumer support and education forum to 50 consumers and their families, about the work PHARMAC is doing.
PHARMAC will continue making the best choices we can, expanding available treatments for all New Zealanders using a robust, evidence-based approach.