Tommy Broughan (Dublin Bay North, Independent) | Oireachtas source

I am also voting "Yes" and calling for a "Yes" vote on Friday but I want to raise another health matter of public importance. The Taoiseach set up the National Rare Diseases Office when he was Minister for Health in 2015. By definition, rare diseases are rare but the office estimates that something like 300,000 Irish people will develop a rare disease at some stage in their lives. Recurrent complaints to us concern the lack of clinical supports and the tortuously slow process for the approval of orphan drugs for these diseases. A case in point is the failure since 2009 to approve the drug Kuvan, or sapropterin dihydrochloride, under the process for national pricing and reimbursement. Kuvan was developed to assist citizens with the rare metabolic condition phenylketonuria, PKU, where patients have difficulty processing the amino acid phenylalanine and must live on very restricted low-protein diets. Kuvan helps many of those affected to live more normal lives. PKU was first identified in the 1930s, although the widespread heel prick test screening did not start until 1960s. Failure to give treatment to a child after the first 48 hours results in serious cognitive impairment and often severe brain damage.

In 2009, the European Medicines Agency and 20 countries approved the use of Kuvan. The Minister for Health told me that at that time, insufficient evidence was submitted by Merck Serono, the manufacturers. It passed on the market authorisation to BioMarin in 2016. BioMarin submitted a new health technology assessment for sapropterin to the HSE. Nine months ago, I asked the Minister for the results of the assessment by the National Centre for Pharmacoeconomics. My constituents and I were very disappointed to find that Kuvan was not recommended for reimbursement last September. It was said to be not cost-effective, although even a 100% uptake has been estimated to cost only around €2.5 million per year per capitacost. From his past work, the Taoiseach may note that this figure is relatively small. In several Dáil replies, the Minister has told me that the assessment process is ongoing and that the rare diseases medical products technology review committee is engaged with prescribers, specialist centres and the patient representative group to try to bring forward clear reimbursement guidelines that would be expected to target sapropterin to the patient cohort for which it may be a cost-effective intervention. I appreciate the Minister's diligent responses relating to Kuvan over the past two years but after nearly ten years of assessment and as one of the countries most affected by this condition, is it not time to approve it? As the Taoiseach may be aware, one in 4,500 babies is born with PKU in Ireland. This is double the European average. I think only Italy and Turkey are somewhere near us. It is said to result from one of our Celtic genes. In 2015, the Minister told me that there were something like 350 or so referrals and 20 new PKU patients per year in the metabolic disorders unit at Children's University Hospital, Temple Street. It is estimated that around 750 patients with PKU are receiving hospital treatment. Representatives from the PKU Association of Ireland, the European association and other patients and relatives have been in regular contact so there is a very strong request that this drug would be approved.

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