Drug approved for rare genetic disorder PKU a decade after State refused to reimburse it

A drug shown to significantly improve quality of life and mental function for people with a rare genetic disorder will finally be available in Ireland from next Monday, a decade after the State first refused to reimburse it.

Drug approved for rare genetic disorder PKU a decade after State refused to reimburse it

A drug shown to significantly improve quality of life and mental function for people with a rare genetic disorder will finally be available in Ireland from next Monday, a decade after the State first refused to reimburse it.

Kuvan, the first drug developed to treat a metabolic disorder known as PKU, will be available to those who benefit from taking it. The move, announced on International PKU Day, has been described as a “massive breakthrough” by members of the PKU Association of Ireland.

Emer O’Reilly, whose three-year-old daughter Chloe has PKU, said it meant that finally, the State had acknowledged that dietary therapy, in use since 1966, was not the only means of treating PKU.

“A percentage of the PKU community will now have access to this drug, but even more importantly, it’s government recognition that treatment is not just about ‘ultra diet for life’,” Ms O’Reilly said. “What this drug is going to provide is an easier life for those who are suitable candidates. It’s about greater freedom to access the food that actually fuels your body.”

People with PKU are unable to break down an amino acid called phenylalanine and the disease requires those affected to adhere to a gruelling low-protein diet. PKUAI spokeswoman Bernadette Gilroy, whose seven-year-old daughter Maria has PKU, said the decision to make the drug available was recognition of the need for innovative treatments.

“As much as dietary therapy does the job, outcomes are still suboptimal,” said Ms Gilroy.

Fergus Woodcock PKUAI chair, said particular thanks to the entire medical team in The National Centre for Inherited Metabolic Disorders “for their ongoing commitment to our patient group”.

He also thanked the National Centre for Pharmacoeconomics and Health Minister Simon Harris “for involving PKUAI throughout this process” and “for addressing the acute need for a new approach to assessing new medicines, treatments and therapies for rare disease groups”.

Mr Woodcock said he hoped “all channels of communication will continue to remain open for new and innovative drugs coming into the marketplace”.

Eileen Treacy and Gregory Pastores, consultants, Adult Metabolic Service, Mater Hospital, said Kuvan and the monitoring it requires, “should be made available on an equitable basis for all adult PKU patients nationally as well as for children”.

“The necessary resources, to provide this service to adults, and the management of the process [i.e. prescribing, monitoring and outcome analysis of this treatment]are not in place to date,” Prof Treacy said.

Kuvan does not eliminate the need for ongoing dietary management, but it has been shown to significantly improve quality of life, and improve metabolic control which can lead to improved mental functioning for users, reduced brain damage, and allow increased amounts of ‘normal daily food’ to be consumed. In Ireland more than 700 people have PKU.

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