Phenylketonuria: Treatment and Support

Martyn Day Excerpts

Tuesday 26th June 2018 Westminster Hall

[Martyn Day (Linlithgow and East Falkirk) (SNP)]

It is a pleasure to serve under your chairmanship, Mr Robertson. I congratulate the hon. Member for Blaydon (Liz Twist) on securing time for this important debate and on her comprehensive and detailed summary of the issue. I am also grateful for the NSPKU briefing she kindly sent round to colleagues in advance of the debate. I must admit I had been in touch with Library specialists before I received the briefing to find out the pronunciation. The hon. Lady sensibly told us how to pronounce it. I will refer to it as PKU for the rest of the debate, despite my hatred of acronyms. It is fair to say that without that guidance, I would have been mispronouncing it.

I welcome the NSPKU members who are here to watch the debate. In preparation for the debate, I found out just how awful the condition is. I am grateful to all Members who have taken part and shared their constituent cases, which have helped highlight how truly horrendous the situation is. For my part, I am aware of no cases in my constituency, but as health is a devolved matter, they would more likely go to Scottish Parliament counterparts.

We have heard that PKU is a rare inherited disorder sufferers of which are unable to break down the amino acid phenylalanine. It is a truly horrific condition, and it is worth putting on record that there is currently no cure. Left untreated, it can cause serious damage to the brain and nervous system, which can lead to learning disabilities and other symptoms. As has been pointed out, the condition affects about one in 10,000 babies in the UK. As the hon. Member for East Renfrewshire (Paul Masterton) mentioned, the situation is worse in Scotland. The stats I have seen suggest that the condition affects one in every 8,000 babies in Scotland, which represents about six or seven cases a year.

Early intervention is vital. Without it, irreversible damage can occur. The Scottish Government take the condition seriously, which is why at around five days old, babies are offered newborn blood spot screening to check whether they have PKU or a number of other conditions. If PKU is confirmed, treatment will be given straight away to reduce the risk of serious complications. If the right treatment is followed, babies with PKU are well in early life and do not develop symptoms. It can be managed with a low protein diet, but as has been pointed out by many speakers today, that is far from an easy option.

We have heard much about access to new treatments such as sapropterin, also known as Kuvan, which is available in 25 countries and has been licensed in the EU since 2008. In May this year, Scotland’s Health Secretary Shona Robison wrote to the Health and Sport Committee to provide a further update on the Scottish Government’s progress in delivering the recommendations from the review of access to new medicines. She confirmed that the pharmaceutical company BioMarin has made a submission to the Scottish Medicines Consortium for sapropterin or Kuvan to be used for the treatment of PKU. The SMC will publish its advice within the next few weeks. Let us hope that we can see progress in the matter as a consequence of the Montgomery review and the definitions of new processes for ultra-orphan drugs.

Decisions made by the Scottish Medicines Consortium are independent of Ministers and the Scottish Parliament, and it is worth remembering that our involvement in that process can be limited, but I would be happy to offer my support to the hon. Member for East Renfrewshire to do any joint working we can to bring pressure to bear, as the drug would be very beneficial for sufferers. The Scottish Government do not intervene in SMC processes, but they have sought to consider with all parties how issues identified in previous submissions could be resolved in new applications to achieve a best-value deal for NHS Scotland.

The Scottish Government have significantly increased access to new medicines in recent years. Between 2011 and 2013, the combined SMC acceptance rate for orphan cancer medicines was 48%. Between 2014 and 2016, the rate was 75% for ultra-orphan, orphan and end-of-life medicines. There are some positives that we can look at in that process. A responsible funding model is key, however. The Scottish Government are actively examining an improved negotiating function that seeks to ensure that the NHS in Scotland pays the same effective price for medicines as in the rest of the UK.

I thank everyone who has taken part. My sympathies go to anyone who is living with the condition. I would be interested in supporting the diet for a day challenge. My diet needs serious improvement at a range of levels, but I would be up for putting in the effort.