Pat Deering (Carlow-Kilkenny, Fine Gael) | Oireachtas source

PKU is a rare genetic disorder that affects a person's metabolism. People with PKU are unable to break down an amino acid called phenylalanine, phe, a natural substance found in food. This results in a build up of phe in the blood and in the brain, which can cause serious health problems, including, if untreated, severe brain damage. There is much more to it than the dietary effects. It also involves irritability, lack of concentration, stomach pains and just not being like every other child.

The only medical treatment for PKU is the drug Kuvan, which can vastly improve the quality of life of some people with PKU. The drug enables more "normal" food to be eaten and critically improves cognitive functioning thus reducing the real threat of long-term irreversible brain damage. Kuvan received EU regulatory approval in 2009 and is currently approved for use and reimbursed in Austria, Belgium, Bulgaria, the Czech Republic, Estonia, France, Germany, Hungary, Italy, the Netherlands, Luxembourg, Norway, Portugal, Romania, Russia and the UK and certain areas in Sweden, Lithuania and Denmark so why is this not the case in Ireland?

The PKU community cannot see any justification for the drug not being available in Ireland on such a relatively small scale when it is widely available across EU, the rest of Europe and worldwide. Since 2010, Kuvan has been assessed by the National Centre for Pharmacoeconomics, NCPE, twice and rejected on both occasions in 2009 and 2017. The PKU community is frustrated with this process and feels it is unfair as it is designed to fail orphan drugs, which do not have the necessary data. It is an expensive and lengthy process for small organisations such as the PKU Association of Ireland, PKUAI, while also being costly for the HSE. The drug review with the NCPE is set up to fail orphan drugs. These drugs are put through endless assessments which they can never win due to their poor scoring on quality of adjusted life, QALY. To get a reliable QALY, one needs big clinical trials, which are common for things such as oncology or heart disease. In simple terms, for example, a cancer drug could give an additional year of life for €10,000 so the cost of that QALY is €10,000. Sadly, PKU and other rare diseases cannot show examples for orphan drugs because one simply cannot do the clinical trials to produce good QALY. There is a misconception that these orphan drugs are expensive. While this sometimes is the case, the reality is often the fact that the QALY is unreliable. However, this will always be the case in orphan drugs because one cannot get reliable clinical trials with small amounts of patients and data.

The PKUAI strongly urges the HSE to engage with the manufacturers of Kuvan and approve funding for the only drug treatment available for PKU. It is already available in nine other EU countries. Giving access to this life-changing drug for all those eligible could transform the future health of people with PKU throughout Ireland and would be of huge benefit to everybody in the community

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