Specialist Neuromuscular Care and Treatments

Cheryl Gillan Excerpts

Tuesday 15th December 2015 Westminster Hall

[Mrs Cheryl Gillan (Chesham and Amersham) (Con)]

I beg to move,

That this House has considered access to specialist neuromuscular care and treatments.

[Mr Graham Brady (in the Chair)]

Mrs Gillan, you have the opportunity to speak to the motion.

[Mrs Gillan]

Thank you very much, Mr Brady. I was not sure whether you were going to say something more from the Chair before I spoke again. May I welcome you warmly to the Chair? Perhaps we will get through this debate together without knowing too many details about the procedure.

I also welcome the Minister to his position. When one is a Minister, one sometimes finds oneself in debates where it is déjà vu all over again, as they say. I am afraid that this is probably going to be one of those debates, but it is no less serious than the debate that we had last week on this subject, and I am grateful for the opportunity that the House has given me to reinforce that debate, by allowing this debate today. I see colleagues in the Chamber who were also here last week, and they will know how passionately I feel about this subject; indeed, many of my colleagues, from all parties in the House, feel passionately about it.

I really am delighted to have an opportunity to speak about this subject, because as I think we all know, there are more than 60 different types of muscular dystrophy and related neuromuscular conditions. It is now widely accepted that approximately 1,000 children and adults for every 1 million of the population in the UK are affected by these muscle-wasting conditions, and it is estimated that some 70,000 people right across the UK are affected.

I appreciate that there are other areas that we could discuss under this topic, and I am sure that we will hear from colleagues about them. However, I will use this opportunity to concentrate on muscular dystrophies such as Duchenne muscular dystrophy, on which I have been working hard with my constituents, the Hill family, in order to gain access to a drug called Translarna.

Around 2,500 children and adults in the UK have Duchenne and almost all of them are male. The condition is caused by the lack of a vital muscle protein called dystrophin. It leads to muscles weakening and wasting over time, and to increasingly severe disability. The vital heart and breathing muscles are affected, which often causes devastating cardiac and respiratory difficulties. In older patients, assisted ventilation can be required, which necessitates 24-hour care. Some patients have to undergo a tracheostomy procedure and, sadly, few people live with this condition past their 30th birthday.

Duchenne has a huge impact on families and on the individuals who suffer from it. Only about 100 boys are diagnosed with it every year in the UK, but it is hard to overstate the devastation to the individual and the surrounding family that it causes. The diagnosis is really hard to come to terms with, and the family must deal with huge challenges as the condition progresses and the patient grows older. It usually leads to full-time wheelchair use, surgery for scoliosis, which often involves inserting iron rods into the patient’s back, and the use of full-time assisted ventilation.

As the Minister knows, there is a very brave little boy who is my constituent. He is called Archie Hill and his parents, Gary and Louisa Hill, together with his brother, Leyton, have campaigned tirelessly for access to Translarna. To put things in context for my colleagues who are here for this debate, I can do no better than to use the words, once again, of Gary and Louisa Hill, which I hope will help people to understand the devastation that this condition causes:

“Being told your child will probably die before you, has to be the most devastating thing you can tell anyone. Archie was diagnosed in 2008. Over the next couple of years we became very reclusive, barely getting out the car at school drop off, sometimes not even answering the phone...we wanted to grieve on our own (grieving is not too strong a word). We’re angry, we look at other families and wonder why us?”

They wonder why it has happened to their beautiful child. They blame themselves, even though they know it is not their fault.

The emotional effect on siblings is really apparent, although I have to say that, having met Leyton, I know he is a fantastic support to his brother and to his mother and father. He is an integral part of this team and should be equally praised for his courage and perseverance. I know that he struggles with his concentration, and that he is deeply affected by his brother’s condition, but he is also a very brave little boy coping with this in his family.

Archie faces huge day-to-day challenges. His parents say:

“He is taken out of lessons for physio on a daily basis. He suffers from…mood swings”.

I find that hardly surprising. They go on:

“Every so often he will ask us questions about his condition; does it only affect my legs? Do I always have to take this medicine? Why do I have to wear the night splints?”

He asks all the sorts of questions that a child of his age would ask their parents when they knew that they were suffering from this condition.

Despite that, Archie has great stamina, and he has spent whole days here campaigning, marching up to Downing Street and telling the Prime Minister what he wants and what the Prime Minister should do about it. Quite frankly, he is one of the pluckiest little spirits that I have ever met in my life.

[The Parliamentary Under-Secretary of State for Life Sciences (George Freeman)]

indicated assent.

[Mrs Gillan]

I see the Minister nodding his head; I know that he agrees; anybody who has met Archie will know that what I am saying is true.

It is not just Archie who is affected by this condition. Sue Barnley, whose son Harry would benefit from Translarna, says:

“If Harry could get Translarna now whilst he is the best he is ever going to get, ie not gaining any more skills, only deteriorating then this will enable us to have more fun on a day to day basis. We gain a lot of support from our family and friends already, this will only increase as time goes on.”

She goes on to say:

“It seems cruel that the drug is there to make a massive difference in our lives, yet it is totally out of reach. Living with Duchenne is like living under a very dark cloud, we as parents know what Harry’s…future holds, to have some extra time living for the ‘here and now’ would make a BIG BIG difference, time to make and treasure some extra memories before our lives become totally engulfed by this awful disease.”

As the Minister knows, I have worked quite closely with Muscular Dystrophy UK and I have nothing but praise for that organisation, because it goes the extra mile for the people it represents. In my experience, the way that it deals with parliamentarians, offering them briefs and helping them, is second to none. It is an organisation that I trust, and I believe that it gives us the right information at the right time. It says that for older boys and men who have this condition, the respiratory function is compromised and the challenges get even greater for them and their families, because they have to engage with and face what many find to be truly frightening aspects of the condition.

One mother with whom Muscular Dystrophy UK works closely was called out to her son’s residential home at 2 am one weekend in September due to an emergency incident. Although her son was not hospitalised long term, he was experiencing increasing difficulties, and his mother told us that

“he is very conscious of his own mortality.”

Other young men are hospitalised frequently and often for long periods of time due to chest infections, which are very difficult to shift and are life-threatening. The current time of year is a frightening time for young men with Duchenne, because as we all know, respiratory infections abound, but in their case, hospitalisation is much more likely than it is for other people.

The Minister knows that Translarna is available from a company called PTC Therapeutics. We should put the benefits of Translarna in the context of a very short life. The early loss of the ability to walk is associated with a faster progression of the disease, and the later stages, as I have just described, are frightening and absolutely devastating. In a short life, the main goal is to spend as much of that life as possible in the best state of health and with the best quality of life. The National Institute for Health and Care Excellence—we are waiting for its decision on Translarna—must apply significant weight to any benefits that can be obtained through the use of Translarna in the context of that short and limited life. A delay in any of the devastating consequences of the disease, no matter how short, contributes to quality of life.

While Translarna is not yet licensed for use as an end-of-life medicine—it is still to be tested in clinical trials with older patients—evidence from existing trials shows that it delays the progression of the disease during a significant stage of a boy’s life. The trials also indicate that it is likely to delay the end of life, as a proxy measure. NICE has to give special consideration to the limited life expectancy of these boys when it is looking at this issue.

Translarna was the first licensed drug to tackle the underlying genetic cause of Duchenne and to keep boys walking for longer. Boys with the specific nonsense mutation of Duchenne, such as my constituent Archie Hill, have been waiting a year and a half since the European Medicines Agency approval in May 2014 for a decision on whether Translarna will be approved in England. It was a conditional approval, but the rubber stamp with it meant that the drug was then available in such countries as France, Spain, Italy, Germany and Denmark. That prompts the obvious question: if a European citizen can travel to any of those countries and get Translarna, why can they not get Translarna here in England?

I appreciate that there is a process that has to be gone through, and that due process needs to be followed, but it seems a cruel and unusual punishment that we have been waiting for more than a year and a half to see whether the drug can be made available to children in our country. As things stand, families face the prospect of a further agonising delay to NICE’s decision over Christmas. If I have stressed it once, I have stressed it over and over again: every day counts as those boys lose ambulation and become ineligible for Translarna.

Boosting clinical trial capacity for Duchenne muscular dystrophy is important. As Translarna becomes available for treatment, as I hope it will, it will apply only to 10% to 15% of boys with Duchenne. Other treatments are beginning to emerge. With the growth in clinical trials for Duchenne, specialist muscle centres—that is where the studies are conducted—are reporting that they are having to turn studies away due to a lack of resources and capacity. As part of a new initiative by Duchenne charities to address those concerns, Muscular Dystrophy UK has conducted an audit of clinical trial capacity and submitted that to the accelerated access review as evidence confirming that worrying picture. If the issue is not addressed, as the Minister knows—he is nodding his head in agreement—there is a risk that the promising drugs for Duchenne that are in the pipeline and in clinical trial will not continue to improve and meet their potential, hampering the search for effective treatments.

Muscular Dystrophy UK’s audit also found an excessively high clinical workload being placed on small and overstretched teams, which means that they are unable to participate in clinical trials through, for example, recruiting patients. That also means that children affected by Duchenne are unable to enrol in trials where they could access a new therapy. To aid the development of clinical trials, it is important that standards of NHS care for Duchenne patients are high across the country to ensure that patients on clinical trials are generally in the same state of health and physical shape. While there are some centres of excellence, such as Newcastle and Great Ormond Street, other parts of the country have much less developed services, and essential therapies, such as specialist physiotherapy, are not regularly provided.

Centres have also expressed concern that excess treatment costs—the additional costs of treating patients enrolled in research—are not being reimbursed to centres by clinical commissioning groups. That is a clear point of friction, and it limits the centres’ ability to take part in research. NHS England recently issued guidance on the issue, but it is not yet clear whether that will be enforced in practice.

Turning to the NICE guidelines on uncommon neurological conditions, a huge problem faces families and health professionals because there is no NICE guideline for any muscular dystrophies or neuromuscular conditions, which is why NHS England has asked NICE to develop clinical guidance on the assessment, diagnosis and referral of uncommon neurological problems. Muscular Dystrophy UK attended the initial scoping workshop on 11 November and will be participating in the consultation, which I understand has already started. While muscular dystrophies and neuromuscular conditions were listed as among the many conditions covered by the guideline and despite past assurances from NICE, there is concern that the focus on muscle-wasting conditions might be minimal unless the complexities of the conditions are highlighted. Given the internationally recognised standards of care for Duchenne and spinal muscular atrophy, it is disappointing that the NICE guidelines that are being developed are far more generic than the original guideline proposed by NICE to cover uncommon neuromuscular conditions in a letter to Muscular Dystrophy UK in November 2013.

Muscular Dystrophy UK has proposed that the guidelines should address the following: paediatric neuromuscular services specifically for Duchenne muscular dystrophy, in conjunction with current guidelines; the use of steroids as effective therapy in terms of the age when the optimal effect can be achieved, whether there should be a continuous or intermittent dosing regime, and how to manage the side effects; spinal surgery to correct or prevent scoliosis, with evidence regarding the optimum age and management pre and post surgery; and respiratory support, with a comparison of the evidence regarding invasive and non-invasive interventions, including comparisons with experiences in Denmark, where evidence suggests that men with Duchenne are living into their 40s because of the relatively high standard of respiratory support. So far as adult neuromuscular services are concerned, the guidelines need to address: diagnosis and the importance of GPs recognising the conditions, making early referrals and ensuring effective links from primary into tertiary care; respiratory support, as I have talked about before; and cardiac support, including regular monitoring to detect and address the deterioration of the heart through the progression of muscle-wasting conditions.

High costs can be involved in unplanned emergency admissions due to Duchenne and other muscle-wasting conditions, and in living with such conditions. There is a cost attached to not taking action to implement preventative care. Access to specialist multidisciplinary care, including access to respiratory, cardiac and physiotherapy support, can contribute to reducing avoidable, unplanned emergency admissions to hospital. A clinical audit of emergency hospital admissions that was led by Professor Mike Hanna revealed in June 2012 that 40% of these costly admissions could have been prevented if patients had been able to access expert tertiary care, specialist physiotherapy and—this is the worst finding of all—vital medical equipment. It has been estimated that addressing those issues could save the NHS more than £32 million a year as the appropriate proportion of NHS spending on neuromuscular services.

The cost of living with Duchenne is enormous. In the first study of its kind, academics found that the overall care for each patient with Duchenne cost the UK economy about £71,000 a year, giving a national total of £120 million. That survey was led by Newcastle University and a team in Sweden. Some 770 patients and their primary caregivers in the UK, Germany, Italy and the US were asked to complete a questionnaire on their experience of living with Duchenne and its impact on their need to access medical care, employment, leisure time and quality of life. The direct cost of the illness across all countries was at least eight times higher than the average health expenditure per person, and the figure for the UK was 16 times higher. The overall figures included medical treatment as well as the cost associated with the loss of employment among caregivers. In the UK, nearly half of caregivers reduced their working hours or stopped working completely owing to their relatives’ Duchenne muscular dystrophy. I therefore have several questions that I hope the Minister will answer during his winding-up speech.

When we discussed access to medicines last week in Westminster Hall, the Minister mentioned that he had made contact with NICE about both Translarna and Vimizin. I hope he feels that he may have reached a point with NICE such that he can talk about those drugs. I understand that they are used in similar situations, so if there is good news about Vimizin, we hope there will be good news about Translarna, and vice-versa.

Will the Minister provide more details on ensuring standards of care for muscular dystrophy and neuromuscular conditions? I really hope that clinical trials will be developed, so will he say a little more about that? I also want him to ensure that NICE gives more prominence to muscular dystrophy and neuromuscular conditions in the development of the uncommon neurological conditions guidelines, as was outlined in the original proposal.

Lastly, I hope the Minister will join me in congratulating Muscular Dystrophy UK on its work to develop information and resources for people with muscle-wasting conditions and to support health professionals through its “Bridging the Gap” project. More than 400 GPs and 150 physiotherapists completed the online learning modules about muscular dystrophy. The charity has sent out 4,500 alert cards for specific muscle-wasting conditions and 300 care plans, which is a positive step forward to improve how we treat and look after our patients with Duchenne.

I finish with a plea to the Minister. When I asked for this debate, as he knows, it was entirely based on trying to get Translarna cleared for Archie Hill. The Hill family went on holiday today, I think shortly before the debate began. I do not know what the Minister can do to speed the process along but, for the Hill family and Archie, and for all the other children and their parents at this time of year, if the Minister could ask NICE to bring forward a positive decision on Translarna, it would be the best Christmas present that any parent or child could get.

[Several hon. Members rose—]

--- Later in debate ---

[George Freeman]

In the few minutes I have available, let me say a few things about the main issues raised. I pay tribute to Muscular Dystrophy UK, Robert Meadowcroft, Emily Crossley, the Duchenne Children’s Trust, Action Duchenne and all the other organisations that work so hard in this area, and specifically on the two or three key drugs.

I remind the House that the decision from NICE on Vimizim is due before the end of the year. Without breaching due process, I have asked that, if that decision is in the pipeline, it can be made as quickly as possible, ideally before we all break up for the Christmas holidays. That is not in my gift, but I made that request. Similarly, I have requested that the Translarna decision, which I believe is due in February, is similarly expedited. However, again, that is not in my gift, and while during the year the Prime Minister and I have urged NICE and NHS England to do everything they can to expedite their decision making on those drugs, we do not have the power—rightly, in my view—to step in and breach process. It is fair to all patients in the NHS that decisions are taken properly.

[Mrs Gillan]

The Minister has given us a sympathetic hearing and I know that he has done everything in his power to try to bring forward that decision. Quite rightly, it is not his decision to make, but, through him, may I appeal to the men and women who are making that decision? If they have any humanity about them, they ought to make a positive announcement before Christmas.