Families of people with PKU, a rare metabolic disorder, have expressed disappointment after the only drug treatment available was rejected by the Health Service Executive on cost-efficiency grounds.
Ireland has one of the highest rates of phenylketonuria (PKU), which requires sufferers to adhere to a strict low-protein diet in order to avoid irreversible mental and physical disabilities.
The PKU Association of Ireland has called on Minister for Health Simon Harris and the HSE to provide funding for the drug, Kuvan. It allows patients to eat increased amounts of "normal food" daily and thereby preserve mental functioning.
This follows a decision by the National Centre for Pharmacoeconomics (NCPE), which assesses new drugs on cost-efficiency grounds, to recommend against Kuvan.
The NCPE expressed concern about the quality-of-life estimates put forward by the manufacturer, BioMarin Europe, and said its budget impact model contained “inappropriate assumptions and parameters which are not robust”.
Currently, 734 patients with PKU are receiving hospital care in Ireland. Up to 27 would be eligible for the treatment each year if it was approved. The NCPE estimated the five-year cost to supply the drug at €12.66 million.
Kuvan was approved by EU regulatory agencies in 2009 for use in 20 European countries.
The PKU association said the Minister and the HSE should weigh up the “significant” long-term health improvements offered by the drug, for a “moderately small” overall impact on the health budget.
“We are hugely disappointed that Kuvan, the only drug treatment for PKU, has been rejected after such a lengthy review,” said chairman Fergus Woodcock. “The NCPE drug process is fundamentally designed to fail vital rare disease drugs, such as Kuvan.”
A PKU diet removes foods such as meat, fish, poultry, dairy products, bread, flour, rice, pasta, yoghurt and chocolate. In addition, all other foods consumed must be strictly monitored for protein levels.
The prevalence of PKU in Ireland is one in 4,500 babies, twice the average in the rest of Europe. Ireland was one of the first countries to introduce the heel prick test at birth for the disorder, almost 50 years ago.
