Phenylketonuria and Kuvan

Jackie Doyle-Price Excerpts

Thursday 22nd March 2018 Commons Chamber

[The Parliamentary Under-Secretary of State for Health (Jackie Doyle-Price)]

I thank my hon. Friend the Member for Cheltenham—

[Vicky Ford]

Chelmsford.

[Jackie Doyle-Price]

I am sorry—I ought to know it is Chelmsford because my hon. Friend is a near neighbour of mine, and I thank her for the passionate and articulate way that she made her case this afternoon. I am proud that it is I who am responding to her first Adjournment debate, because she and I go back a long way. I hope to give her some comfort from the fact that we are taking into consideration some of the issues she has raised today. I also thank the hon. Member for Strangford (Jim Shannon) who made an articulate pitch on behalf of the families of those who suffer from rare diseases. We must always remember that we are dealing not just with the person who has the condition, and that the burden on their family can often be as great, if not greater.

My hon. Friend has secured this debate on phenylketonuria and its treatment with Kuvan, and she set out some concerns on behalf of all PKU patients, which I hope to address. The importance of addressing rare diseases, of which PKU is one, is increasingly recognised by policy makers and healthcare service providers, not just in the UK but worldwide. Mercifully, the numbers of patients suffering from each rare disease can be small, but collectively 3.5 million people in the UK alone are affected by rare diseases. To put that number in context, 1 in 17 people will suffer from a rare disease at some point in their life.

The Government are dedicated to improving the life of patients with rare diseases, and that is laid down in our promise to implement the 51 commitments of the UK strategy for rare diseases, which includes the need to take account of new evidence that may emerge as a result of research and development.

Many rare diseases are present at birth or soon after and PKU is no exception. We understand that PKU has an estimated prevalence of one in every 10,000 births. We know that without treatment early in life the outlook for those born with PKU is very poor. Without appropriate treatment, as my hon. Friend outlined, people will develop severe learning disabilities which may lead them to require constant care. With treatment, however, the outlook can be good. Screening therefore has a vital role in early and accurate diagnosis. The current new-born screening programme in the UK is based on the blood spot, or heel prick, test and screens for nine rare conditions, including PKU. Treatment can then start straight away, minimising the risk of serious complications. As I understand it, for patients with PKU this treatment includes a special diet, confining intake to low protein food and regular blood tests, as my hon. Friend explained.

I recognise that this protein-restricted diet can be very limiting and particularly difficult for children to adhere to. Young patients with PKU cannot eat many of the enjoyable foods that we all eat each and every day, such as meats, milk, cheese and fish. That undoubtedly puts a strain on patients like Cait and their families—I am very pleased that they are here witnessing the debate today—and can make simple day-to-day activities such as going to school or meeting friends a significant challenge. I also appreciate the immense pressure it must put on parents and carers to deny a child the pleasure of choosing and eating a wide range of food on a daily basis.

We all understand the desire of young patients to live a regular life, and eat any food and not have to worry about consequences. However, because of the extremely limited number of naturally low phenylalanine foods available to PKU patients, mainly fruit and vegetables, they also need supplements to meet daily energy requirements, add bulk to their diet and increase variety. My hon. Friend outlined some of the protein shakes they have to rely on to do that. The availability of low-protein foods and nutritional supplements through the NHS is still very important and has, since its development by Birmingham Children’s hospital in the 1950s, saved the lives and improved the outcomes of many PKU patients.

Let me move on to address the specific point my hon. Friend made about Kuvan, which has been found to lower blood phenylalanine levels in some patients with mild or moderate PKU. As highlighted today and in previous debates, this drug is unfortunately only effective in some patients. It is entirely dependent on their particular genetic make-up and is more likely to benefit those with the milder forms of PKU. In those cases where patients respond to treatment with Kuvan, it means they are still likely to be required to continue with some form of dietary restriction.

NHS England currently has a policy on the use of Kuvan for the management of PKU during pregnancy. It is targeted at PKU patients who are not able to establish low levels through dietary control alone. Keeping mums-to-be safe is of great clinical importance to prevent maternal PKU syndrome and lifetime adverse consequences for their babies, the worry of which may further increase a mother’s anxiety around pregnancy and the worry about the developing baby.

The reason why Kuvan is currently not routinely commissioned for use in children and adults is the lack of evidence of its effectiveness on nutritional status and cognitive development at the time the policy was developed in 2015. However, if doctors treating a patient think they would benefit from treatment with Kuvan, clinicians are able to make an individual patient funding request, as my hon. Friend said. I appreciate that what my hon. Friend is asking for today is a bigger change than that, beyond access for an individual patient—namely, a wish to see a change to the commissioning policy on Kuvan for use in children and adults that respond to the drug. As I mentioned in my opening remarks, it is important to take account of new evidence and developments as they emerge. I am happy to report that NHS England has received a preliminary policy proposal for the use of Kuvan in the management of PKU for adults and children, as new evidence has now been published to support its use. That was considered by the clinical panel in January, where it was agreed that NHS England should undertake a further review. NHS England is now working with NICE to agree the best approach and has asked it to consider developing advice on the use of Kuvan. I hope that my hon. Friend accepts that this is a positive step in the right direction.

I also agree with my hon. Friend about the need for good stakeholder engagement. Taking stakeholder views into account is vital in any decision-making process. That will involve members of the public and patients, including Cait and her family, as well as all families this will have an impact on. I was very pleased to hear make the point about BioMarin, the manufacturer of Kuvan, being open to negotiation on the pricing of the drug. That is extremely welcome news. Indeed, as part of any review process, manufacturers will be able to offer a patient access scheme to NICE, and the price offered is then considered to determine the cost-effectiveness of a drug.

I hope I have reassured the House today that the discussion on access to Kuvan is actively being considered. The Department will follow the upcoming work by NICE and NHS England with great interest as they consider the impact of new evidence on commissioning policy. I emphasise that research is crucial to improving our knowledge of rare diseases and to working towards better treatment of them, and I am pleased that the UK is recognised as one of the leading countries for research into rare diseases. In July 2017, the chief medical officer published her landmark report, setting out a vision for genomic medicine in the UK.

The Government have accepted the report in full and responded with the establishment of a national genomics board chaired by my colleague, Lord O’Shaughnessy. I hope that this reassures my hon. Friend and the House about the Government’s commitment to supporting research, aiming to bring real change to the way we understand and treat rare diseases. We are in a fantastic position in the UK, at the forefront of that science, and our patients play a vital role in challenging us as policy makers, healthcare professionals and researchers to find new treatments for the benefit of all.

In conclusion, we will ensure that we harness the remarkable prospects that these new developments present for the benefit of our rare diseases patients. We will look more closely at Kuvan. NHS England and NICE will review the new evidence and will engage with BioMarin to consider whether Kuvan should be made available more widely.

I am very grateful once again to my hon. Friend for highlighting these issues. In closing, perhaps through her I can extend my very best wishes to Cait and her family as she battles with this disease.

Question put and agreed to.