Alpha-1 Antitrypsin Deficiency

Mark Pawsey Excerpts

Wednesday 31st October 2018 Westminster Hall

[Mark Pawsey (Rugby) (Con)]

I beg to move,

That this House has considered treatment for alpha-1 antitrypsin deficiency.

It is a pleasure to serve under your chairmanship, Mr Hollobone.

Hon. Members might wish to know what alpha-1 antitrypsin deficiency is. It is a rare and complex hereditary illness, and those who suffer from it simply refer to it as alpha-1 and to themselves as alphas. Some people affected by alpha-1 are in the Public Gallery today.

I will explain the condition: alpha-1 antitrypsin, or AAT, is a protein produced in the liver. In healthy people, it is released into the blood circulation to protect the body from the effects of inflammation, but for those with alpha-1 the protein does not function properly and is trapped in the liver. That can cause damage to the liver and, because the protein is unable to circulate around the body, the lungs lack the protection they need from the damaging effects of pollutants and infections. Those with alpha-1 are particularly susceptible and sensitive to cigarette smoke, for example.

Alpha-1 affects both children and adults, and the condition is chronic and progressive. It can affect life expectancy and lead to disability, leaving sufferers dependent on the health service and carers. The damage it can cause to the liver can lead to jaundice, sickness and tiredness, and those with the condition are more prone to chest infections, often leading to a swift deterioration in health. In extreme cases, patients can require an organ transplant.

In the early stages, it is common for alpha-1 not to be properly diagnosed, and sufferers are often thought to have asthma or chronic obstructive pulmonary disease, more widely known as COPD. In many instances, they are treated for those conditions for a number of years before a correct diagnosis is given. As with most conditions, the earlier diagnosis takes place and appropriate treatment can begin, the better someone’s chances of managing the condition.

I became aware of the condition in 2012, when a constituent of mine, Sarah Parrin, attended my constituency advice surgery and brought along her son, Stephen Leadbetter. Stephen’s case was characteristic of many others across the country. He had been thought initially to have severe asthma; he had suffered with lung problems since the age of 14 and had undergone several surgeries due to pneumothoraxes. Those occur when small sacs of air collect in the pleural space between the lung and the chest wall, creating pressure on the lungs that can lead to lung collapse.

Stephen was 22 when I met him, and had only just been diagnosed with alpha-1, eight years after he had really started to suffer. The thing I remember most about his mother’s bringing him to see me was her telling me how things would have been so much better if Stephen had been diagnosed earlier and been able to access specialised services. If that had been the case, his health might not have declined so rapidly during his teenage years.

[Jim Shannon (Strangford) (DUP)]

I congratulate the hon. Gentleman on bringing this matter to Westminster Hall for consideration. As my party’s health spokesperson, this is something that I have responsibility for, so I appreciate it. While AATD can cause a lot of conditions, such as COPD or liver disease, it is a separate condition. If treatment for it was available in the UK, that could prevent the development of other lung and liver conditions, as he has said. Surely the prevention of other diseases would be of long-term benefit to the national health service. I say that to the Minister in particular. While there are some lifestyle changes that people can make, AATD is inherited and if a person has inherited two ZZ genotypes they are likely to develop further issues.

Does the hon. Gentleman agree that time must be given to clinical trials involving AAT augmentation therapy? If he does, perhaps the Minister would like to respond positively to that.

[Mark Pawsey]

The hon. Gentleman anticipates two of the asks that I will come to later; I thank him for that helpful contribution.

Going back to Stephen’s condition, he suffered very seriously from chest infections. In fact, at one point he suffered with his lungs collapsing, and Birmingham Children’s Hospital, which was treating him at the time, took the decision to staple his lungs to his chest wall. As I say, it was eight years after first presenting with the issues that Stephen’s own general practitioner tested him for alpha-1 and that was found to be the condition he was suffering from.

The British Lung Foundation estimates that approximately 25,000 people in the UK suffer from the disease, and while many can live relatively normal and healthy lives, others such as Stephen suffer from the condition. Interestingly, I was contacted only today by a colleague here in Parliament, who told me that they suffer from the condition and that, as one of three siblings in a family of six, they were involved in a study based at University College London in the 1970s. That was someone we would not recognise as being a sufferer, which exemplifies the fact that not everybody shows the symptoms that so many people have.

It is rarer for children to suffer, which explains why the doctors who treated Stephen did not test for alpha-1 initially, but we can be grateful that by 2012 he was finally correctly diagnosed. Stephen’s mother Sarah was very concerned about the lack of awareness of the condition and became involved with the Alpha-1 Alliance, a charity formed in 1997 to support those suffering from the condition and their families, carers and friends. We are joined today by members of that group and affiliated organisations, as well as Professor David Parr, who is head of medicine and clinical director for cardiothoracic services and a consultant respiratory physician at University Hospitals Coventry and Warwickshire.

Both Sarah and Stephen, who suffers from alpha-1, have told me that they found the support from the Alpha-1 Alliance and the alpha-1 support group invaluable. When I met them back in 2012, they asked me to get more involved, learn and understand more about the condition, and do what I might as their Member of Parliament to raise awareness here in Westminster. To that end, I raised the condition with the Leader of the House in business questions in December 2012; I understand that was the first time that the condition alpha-1 had been mentioned in the House. We then arranged a seminar and a report was brought to Parliament, and there I met Professor Parr, whose hospital, UHCW, happens to serve the residents of my Rugby constituency.

At that time, there was a sense that the work of the Alpha-1 Alliance was gaining traction and starting to raise awareness. We had a meeting with the then Secretary of State, my right hon. Friend the Member for South West Surrey (Mr Hunt), and Karen North and Margaret Millar of the alpha-1 support group came along to explain a little about the condition and how the treatment for it could be improved.

Testing for this condition is a relatively straightforward process, requiring a simple blood test. Many organisations, including the World Health Organisation, have made recommendations on who should be tested for the condition, such as anyone who suffers from emphysema, COPD or chronic bronchitis; people with a family history of liver disease; and certainly blood relatives of a person diagnosed with alpha-1. Perhaps also newborns and children with unexplained liver diseases should be considered as potential sufferers from alpha-1.

[Tonia Antoniazzi (Gower) (Lab)]

I welcome today’s debate, as I also have a constituent, Tina Walker, who has alpha-1. She travels from Swansea to the clinic in Coventry twice a year. Last night, I also had an email from an ex-pupil who I used to teach in Wigan, whose daughter—she must be just a small child—also has the condition. I feel strongly that we parliamentarians should be working together. Does the hon. Gentleman agree that it would be wise of us to urge the Government to run a UK-wide campaign to raise awareness? As he says, this involves just a simple blood test.

[Mark Pawsey]

Part and parcel of our efforts today is to achieve precisely that. I am delighted that the hon. Lady’s constituent comes to Coventry and is being treated by the excellent services at University Hospitals Coventry and Warwickshire.

Unfortunately, alpha-1 is not yet curable, and no specific treatment for the disease is freely available in the UK; it is a matter of treating only the symptoms with the appropriate therapeutic methods. The hon. Member for Strangford (Jim Shannon) referred to intravenous AAT protein augmentation therapy, which involves replacing the missing AAT protein. That treatment is available in the United States, Spain, Germany and Italy, for example, but it is not yet available in the UK.

The National Institute for Health and Care Excellence—the Government body that produces guidelines on which treatments to make available—only last month published draft guidelines that rejected the use of the only licensed augmentation therapy product in the UK, Respreeza. It has had a UK licence since 2015, but was unfortunately deemed by NICE to be too expensive to be made available on the NHS. We acknowledge that it is expensive; lifelong therapy costs around £60,000 per patient per year. NICE continues to evaluate that and will make its final recommendations next year. The entire alpha-1 community has been heavily involved in pressing the case for patients across the country to be prescribed the treatment.

Only the symptoms of alpha-1 sufferers are treated, often by inhaled medications developed for people suffering from asthma and COPD, rather than specific treatments for the lung damage caused by alpha-1. The other issue is that those who suffer from alpha-1 become susceptible to chest infections, which was certainly the case for Stephen Leadbetter, and it is vital that they are treated quickly with antibiotics at the first sign of infection and are vaccinated every year against flu.

[Matt Western (Warwick and Leamington) (Lab)]

I congratulate the hon. Gentleman on securing this important debate, and I commend the work of the alpha-1 patient community in pressing for it as well. Does he share my frustration that the highly specialised NHS alpha-1 service has been approved and budgeted for and was due to be put in place earlier this year, but may not actually be installed by next year?

[Mark Pawsey]

That is certainly a frustration for the many patients who suffer. I hope that the Minister will address progress towards the outcome that we would all like to see.

There are changes that patients can make to their lifestyle to help to manage the condition, including specific exercise programmes and altering their diets. It is also important for them to avoid being around second-hand smoke and other environmental pollutants, such as open fires, petrol fumes, paint, solvents and dust, and that they avoid coming into contact with anyone suffering from a cold or the flu. However, that is often not enough. There is a need for Government action. We would like the Government to look at the prescribed specialised services advisory group’s recommendations and address the specific recommendation for a national, highly specialised service for patients with severe alpha-1.

A Department of Health and Social Care paper sets it out that that service, referred to by the hon. Member for Warwick and Leamington (Matt Western), should be operational by April 2019, which is only six months away. However, I understand that the formal development of the service has not yet commenced, and that it is highly unlikely that it will be operational by the original deadline.

The need for progress on the service forms one of the two principal objectives of the alpha-1 patient community, and I look forward to the Minister’s commenting on that. The second particular ask is to ensure that alpha-1 antitrypsin augmentation therapy—access to Respreeza, the only licensed treatment—will be available. I hope that the Minister responds positively to that.

It is the view of the alpha-1 patient community that the Government should focus on five key areas. The first is that that highly specialised service should become operational in a timely fashion. Secondly, patients should be involved at all stages in the development and implementation of the service to ensure that the patient voice is fully heard and taken into consideration. Thirdly, we are calling for a review of the impact of the NICE highly specialised technologies guidelines on patient access to rare disease treatments.

Fourthly, we are looking to apply a broader decision framework to the NICE process of evaluating the value of rare disease treatments, looking particularly at the social and societal benefits that impact patients and carers. Finally, we ask the Government to consider the appropriateness of introducing a more formalised process of conditional approval of rare disease treatments in England, such as alpha-1 augmentation therapy, as is being implemented in Scotland.

I shall conclude by referring to an email I received from a patient only yesterday that sets out her concerns with alpha-1 and its misdiagnosis. The sufferer emailed me to say that her mother died from antitrypsin deficiency, and that she now has the lung version of the disease. She is 48-years-old, and two years ago was a runner, but can now barely run for a bus or climb stairs. Her lung function has dropped dramatically in just one year. She is an ex-smoker and acknowledges the harm that smoking caused with respect to the condition. Had she been diagnosed earlier, she would have been able to make better lifestyle choices. The bit that got me was when she said that the deficiency for those who are symptomatic progresses at a very fast rate, and that, for many, it will end in gasping for breath for a long, drawn-out period, until such time as their lungs stop functioning completely. She says it feels like being eaten alive.

If the Government can work towards the two principal objectives and five key recommendations of the alpha-1 patient community, there will be a huge benefit to a significant group of people. It is our hope that the present and future needs of patients suffering this rare condition may finally be met.

[Mr Philip Hollobone (in the Chair)]

The debate can last until 4.30 pm.

[The Lord Commissioner of Her Majesty's Treasury (Nigel Adams)]

It is always a pleasure to serve under your chairmanship, Mr Hollobone. I start by congratulating my hon. Friend the Member for Rugby (Mark Pawsey) on securing this important debate on the need to raise awareness of alpha-1 antitrypsin deficiency disease. I was unaware of the condition until I heard about the debate, and it has been enlightening to learn about it and the number of people it affects in this country. He set out, with great clarity and passion, the concerns of alpha-1 patients across the country.

With up to 8,000 rare diseases identified so far—a number that steadily grows as our diagnostic tools improve—the Government remain dedicated to improving the lives of all those living with a rare condition and to implementing the 51 commitments of the UK strategy for rare diseases, which was reinforced in the Prime Minister’s speech in June, in which she set out her future vision. That vision will be underpinned by increased funding for the NHS, so that the UK can lead the world in the use of data and technology to prevent, and not just treat, illness; to diagnose conditions before symptoms occur; and, importantly, to deliver personalised treatment informed not only by a general understanding of disease but by our own data, including our own genetic make-ups.

As we have heard from hon. Members, people with alpha-1 have low levels of the protective enzyme alpha1-proteinase inhibitor. That means that they are more vulnerable to body tissue damage from infections and environmental toxins—tobacco smoke, in particular. As my hon. Friend the Member for Rugby said, there is no cure for alpha-1, and treatment is focused on alleviating the symptoms.

My hon. Friend referred to the ongoing highly specialised technology evaluation by NICE of the drug Respreeza. That is a type of therapy called replacement therapy. It aims to boost the levels of alpha-1 antitrypsin in the blood. As those in the Chamber will know, NICE is an independent body and its highly specialised technologies evaluation committee makes recommendations on the use of new and existing highly specialised medicines and treatments within the NHS in England.

I am confident that NICE has in place a robust framework for evaluating technologies for rare diseases. As was said, it has not yet published its final guidance on the use of Respreeza for treating emphysema in patients with alpha-1, but it recently consulted on its draft guidance. As we heard, NICE’s evaluation committee is due to meet again to consider its recommendations in March 2019. That is to enable the company that makes Respreeza to prepare and submit additional information for the committee to consider. I am assured that, in developing its final recommendations, NICE will take fully into account all the comments that it received in response to the consultation, along with any additional information provided by the company. We look forward to hearing NICE’s recommendations after consideration has concluded.

As my hon. Friend and the hon. Member for Warwick and Leamington (Matt Western) mentioned, Ministers agreed with the advice of the prescribed specialised services advisory group that services for people diagnosed with alpha-1 should be nationally commissioned by NHS England and not by clinical commissioning groups. May I reassure my hon. Friend and the hon. Gentleman that NHS England is engaging with NICE on the HST evaluation of Respreeza? Once final guidance is received, following the evaluation committee’s meeting scheduled for March next year, NHS England will consider the commissioning implications in consultation with the specialised respiratory clinical reference group.

Should Respreeza be recommended by NICE, it would be for NHS England to make funding available within 90 calendar days of the positive evaluation. Should that be the case, NHS England would want to be assured that the centres initiating the treatment had the appropriate expertise and resources in place. NHS England is committed to involving patients in the development of new services, and routinely does so in line with the specialised commissioning framework, and with dedicated working groups that inform service specification and have patient representation.

As my hon. Friend said, alpha-1 is often undiagnosed or misdiagnosed. It is sometimes diagnosed late, as in the case of his constituent, Mr Leadbetter. More can be done to diagnose rare conditions earlier. Whole genome sequencing is increasingly utilised as a diagnostic tool for rare diseases in individuals with unrecognised signs and symptoms. I am pleased to report that about 25% of rare disease patients who have their genome sequenced through the 100,000 Genomes Project now receive a diagnosis for the first time.

The genomic medicine service was launched by my right hon. Friend the Secretary of State for Health and Social Care on 2 October 2018, making the UK the first in the world to integrate genomic technologies, including whole genome sequencing, into routine clinical care. The first national genomic test directory also became operational from October this year. It specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available and the patients who will be eligible to access them. Alpha-1 is included in the new directory, which will be kept up to date on an annual basis to keep pace with scientific and technological advances.

Let me refer to one or two of the comments from hon. Members. The hon. Member for Strangford (Jim Shannon) talked about the prevention of disease and clinical trials having taken place. Improving the lives of people with alpha-1 through research is critical. We support continued research into rare diseases through the National Institute for Health Research. That has established 20 biomedical research centres that develop new treatments for patients with a range of rare diseases.

The hon. Member for Gower (Tonia Antoniazzi) referred to a UK-wide campaign to raise awareness of this condition. I fully agree with her and support the notion that we should always be working together to raise awareness of alpha-1. Many of our initiatives are aimed at raising awareness of rare diseases among healthcare professionals and the general public; it must be extremely difficult for a GP to have knowledge of, spot the symptoms of, and recognise up to 8,000 rare diseases. Health Education England and Genomics England have produced a range of educational materials about rare diseases aimed at those very people—healthcare professionals, including GPs, as the first point of contact in the NHS. Information about rare diseases is also provided for patients and their families.

Let me refer to some of the remarks made by my hon. Friend the Member for Rugby. He talked about allowing patients to be closely involved at all stages of the development and implementation of the service that we are discussing. NHS England routinely involves patients in the development of new services, in line with the specialised commissioning framework, and there are dedicated working groups that inform service specification development. My hon. Friend talked about a review to reflect the impact that the changes to the NICE HST guidelines have had on patient access. NICE’s methods and processes for assessing drugs have been carefully developed over time and are internationally respected. It continues to keep its procedures under review. That includes extensive engagement with patient groups.

[Mark Pawsey]

I want to press the Minister on the availability of the specialised service, on the assumption that use of Respreeza will be approved by NICE. We are running a little behind. Does he think that the service, which was intended to be available by 2019, might be available by 2020? Is there hope for sufferers that that service might be available to them?

[Nigel Adams]

It is absolutely a matter for NICE to make its recommendations, but I think that, if this was approved, we could have a situation in which it could be available by at least April 2020. I hope that that is some encouraging news for my hon. Friend.

I probably need to wrap up the debate, but my hon. Friend also talked about the Government considering the appropriateness of introducing a more formal process of conditional approval for rare disease treatments such as alpha-1 augmentation therapy. The Department has no plans currently to establish a new assessment process for the evaluation of rare disease treatments. NICE’s methods and processes for developing its recommendations have been developed over the past 20 years through extensive engagement with interested parties.

Finally, let me assure my hon. Friend and all other hon. Members who have taken part in the debate that the Government are dedicated to improving the lives of all patients with rare diseases such as alpha-1. The publication of the UK strategy for rare diseases in 2013 was a significant milestone in that respect, and the strategy is now being implemented across the UK. The strategy set out our strategic vision and contains 51 commitments concentrating on raising awareness, providing better diagnosis and patient care, and ensuring a strong emphasis on the importance of research in our quest better to understand and treat rare diseases. Research is at the heart of better treatment and, we hope, prevention. That is why in 2017 the NIHR BioResource for Translational Research in Common and Rare Diseases was launched, supported by £36.5 million of NIHR funding.

I thank those who have come to listen to the debate, and I thank my hon. Friend the Member for Rugby and everyone present for contributing to it and for highlighting and discussing these issues. For their constituents and for all those who suffer from alpha-1 or any rare disease, I hope that I have helped in some way to assure them that the Government and the NHS are working hard to tackle these conditions and to help improve the lives of, and treatment pathways for, all patients.

Question put and agreed to.