Health and Sport Committee

Meeting date: Tuesday, March 27, 2012

Official Report 440KB pdf

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Petitions

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Orphan Diseases (Access to Therapy) (PE1398)

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Pompe Disease (Access to Therapy) (PE1399)

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Paroxysmal Nocturnal Haemoglobinuria (Access to Therapy) (PE1401)

Agenda item 5 is oral evidence on three petitions, which relate to access to medicines for orphan diseases and individual patient treatment requests. I welcome the people who are here to represent the petitions: Stephen Nutt is executive officer at Rare Disease UK; Joan Fletcher is family support officer at the Association for Glycogen Storage Disease UK; and Lesley Loeliger is founder and chair of PNH Scotland. I will give each of you the opportunity to make brief opening remarks before we move on to questions.

First, please accept my apologies on behalf of the chair of Rare Disease UK, Alastair Kent, who had a prior commitment and was unable to make today’s meeting. Secondly, I thank the Health and Sport Committee for the opportunity to give evidence on an issue that is vital for many patients who live with a rare disease in Scotland.

There are more than 6,000 rare diseases, affecting one in 17 people at some point in their lives—that amounts to 300,000 people in Scotland. Rare diseases are a significant health and social care issue, which is why Rare Disease UK has been calling for a strategic plan to facilitate research and improve access to treatment, care and support for patients with rare diseases. We are pleased that the Scottish Government is currently consulting jointly with the other UK health departments on such a plan.

Access to medicines for patients who are affected by rare diseases is and will continue to be a growing issue, but the issue must be viewed in context. For the vast majority of rare diseases, no effective treatments are available, and the best intervention for which most patients can hope is the effective palliation of symptoms.

In the minority of rare diseases for which a treatment has been approved that has the potential to improve the quality or increase the quantity of a person’s life, patients and their family members are understandably eager to have fair access to the treatment. For the reasons that are laid out in PE1398, we do not think that patients in Scotland currently have fair access to treatment.

We are keen to stress that we are looking for decisions to be made equitably, not preferentially. Patients who are affected by rare diseases want to be sure that they will be given a fair hearing. However, decision-making frameworks that were designed for common conditions generally cannot capture the unique characteristics of rare diseases.

That is why we are calling for a revision of the IPTR process for rare diseases, to ensure that patients with rare diseases in Scotland have equal and fair access to potentially life-altering treatments, when such treatments exist.

My final plea is that the committee does not forget our concerns about the Scottish Medicines Consortium appraisal process, which are also set out in our petition.

I thank the committee for its attention and will be happy to answer questions.

Good morning. I am a clinical nurse specialist and I work as the family support officer for the Association for Glycogen Storage Disease UK.

Pompe disease is a progressive muscle-wasting disease, which affects mobility and breathing and, in children, the heart muscle. When treatment is delayed or withheld, patients become extremely disabled and premature death occurs.

Pompe disease is a very rare condition, which affects very few people. When PE1399 was brought to the Parliament, 11 patients had been diagnosed with Pompe disease in Scotland. Three patients—two children and one adult—are currently receiving treatment; others have been rejected, despite going through the lengthy individual patient treatment request process. Two patients have been refused treatment and their subsequent appeals have been declined; in another case a decision is pending. Three patients are not eligible for treatment at present and two patients have moved to England and are now receiving treatment.

The situation that I described highlights the inequalities that exist in the healthcare system in Scotland. Patients in Scotland are being subjected to a postcode lottery for a treatment that is readily available in England, despite recommendations from clinical experts. All patients who meet the criteria in the clinical guidelines in England are eligible for treatment immediately. Early treatment is essential to halt the destruction of muscle. Infants who get no treatment decline rapidly and die within the first 12 months of life.

The quality ambitions in “The Healthcare Quality Strategy for NHS Scotland” are not being met for patients who suffer from Pompe disease. According to the ambitions:

“The most appropriate treatments, interventions, support and services will be provided at the right time to everyone who will benefit, and wasteful or harmful variation will be eradicated”,

and

“There will be no avoidable injury or harm to people from healthcare they receive”.

The IPTR process is not working for patients in all NHS boards in Scotland. Some patients are being denied treatment simply because of where they live, as a result of their local health board’s interpretation of IPTR policy. We urgently require a change to the policy or the introduction of an alternative process for commissioning orphan drugs.

I thank members of the committee for your time and attention.

I am here to represent the charity PNH Scotland and the PNH Alliance. Paroxysmal nocturnal haemoglobinuria is an ultra-rare bone-marrow disease. There are approximately 22 PNH patients in Scotland.

I was diagnosed with PNH five years ago. At the time, I was told that the median survival rate was 10 years. I am extremely fortunate to be on the drug Eculizumab, which allows me to have a normal life expectancy again.

The setting up and running of the patient support group, PNH Scotland, has enabled me to meet almost all the PNH patients in Scotland and to learn about their vastly different experiences of diagnosis, care and treatment. In my health board area, five patients have been recommended for Eculizumab. Of the five, I have been granted funding but the other four have not been so fortunate. One gentleman was refused funding several times. When I spoke to him, he told me that all he wanted was a life. Sadly, he died the next day. One patient for whom the drug was recommended was turned down for funding despite several appeals. She was given the drug only when she had a near-fatal blood clot on her kidney. The other two patients have also been turned down.

There are only a handful of PNH experts in the whole of Europe, but we are in an extremely privileged position, in that we have a national PNH centre of excellence in Scotland, at Monklands hospital. The centre can give expert PNH opinion for patients in Scotland nationally, but funding decisions are still made regionally, and regional boards do not always accept or acknowledge the expertise that is available to them at Monklands.

There is inequity of funding between health board areas in Scotland and within the UK as a whole, because Scotland is the only country in the UK that is not funding Eculizumab.

The PNH centre of excellence at Monklands has the expertise to recommend treatment but not the authority to grant funding. This is what needs to change.

Thank you.

I thank you all.

I thank the witnesses for their interesting and informative introductory statements. I am conscious that, on 13 February 2012, the Scottish Government issued new guidance for all health boards on the SMC and IPTRs. Will the witnesses comment on that guidance? Does it ensure, as it set out to, that we have safe and effective use of new medicines? Will the witnesses also comment on the additional measures to improve NHS board consideration of IPTRs?

We are very grateful that changes were made quickly after we asked for help. Unfortunately, PNH Scotland feels that the wording of the guidance needs to be made more robust. The guidance states that an expert in the field must be present on the appeal panel. Depending on the health board region that the patient was in, that could be a local haematologist rather than a PNH expert.

Many haematologists with 20 or 25 years’ experience may never have had the chance to meet a PNH patient, and the condition is specific. We have a centre of excellence at Monklands. As I said, there are few experts on the condition in Europe but most of them are in the UK and we even have one in Scotland. I recommend that the wording be made slightly more robust so that what is meant by “expert” is understood.

The new guidance does nothing to change the situation on rare diseases. Rare diseases have specific characteristics and the frameworks that are designed to deal with common conditions cannot capture those.

I thank Ms Loeliger for her useful comment. The committee wants to understand how robust the guidance is. We may want to further tease out the use of experts.

With my ex-health librarian hat on, I wonder about rare diseases and what Mr Nutt said. Where I worked, we dealt with long-term, chronic illness, often involving orphan diseases. Is Mr Nutt saying that we need separate guidelines for rare and orphan diseases? If we do that, how robust could they be? Would we end up having to have guidelines for each individual rare or orphan disease? Is that practical? With, perhaps, a dozen sets of guidelines, how would we be able to track across them to ensure equity of application? That is what worries me from an evidential point of view.

I accept that point, but the guidance that was issued in February did not change the situation. Although the word “exceptional” is not explicitly used any more, there is still a general assumption that one needs to prove that a patient is exceptional from the general category of patients. With rare diseases, that is almost impossible to do. We are dealing with a small cohort of patients as it is, so it is almost impossible to demonstrate that one patient is exceptional compared to another.

Apart from having a small quantity of patients, much less is known about a rare disease or about the prognosis of a rare disease. That can make satisfying evidential burdens quite difficult.

We fully support the need for frameworks and guidance. We are not saying that every drug for a rare disease should be given to every patient without consideration, with no framework and with no requirement for evidence to be submitted. However, frameworks and guidance must deal with rare diseases appropriately, given the specific nature of such diseases. If frameworks that were designed for common conditions are used, that is an extra burden for a patient with a rare disease to satisfy on top of all the other difficulties that are associated with having a rare disease.

11:15

I will tease that out a wee bit further. Are you saying that although the guidelines are a big step forward, we need to ask for a wee bit more evidence—perhaps from the cabinet secretary—on some issues? I am still not sure what you think we need for rare and orphan diseases.

The current criterion for a successful IPTR is to show that

“The patient’s clinical circumstances ... are significantly different from either ... the general population of patients covered by the medicine’s licence; or ... the population of patients included in the clinical trials for the medicine’s licensed indication as appraised.”

A clinical trial that relates to a rare disease will be based on the patients who have the greatest need, because a very small cohort of patients will be able to participate. Satisfying the criterion for a successful IPTR is almost impossible. The criterion is okay for common conditions, but it does not work for rare diseases.

The problem has two sides. The Scottish Medicines Consortium appraisal process is inappropriate for rare diseases and leads to many orphan drugs being rejected, so the only hope for patients with rare diseases to access their treatment is through the IPTR process, which provides an inappropriate framework. The issues are difficult to divorce from each other.

I come back to the point that the Scottish Medicines Consortium criteria are not fair for rare diseases. That creates a knock-on effect, which is seen a lot more in the IPTR process.

I am a bit confused. You say that clinical trials for medicines for rare diseases will involve those with the greatest need, but surely such clinical trials take in a wider spectrum of needs, given the small cohort of people with rare and orphan diseases who can be examined.

I cannot quite answer that question in detail. You would need to ask it of someone with a research background, who could explain the position better than I can.

A related issue is that getting the numbers for clinical trials is difficult, which means that treatments and their effect are a lot less certain and which affects the study of conditions. Trying to prove that a patient is different when not so much evidence is known is difficult, if not impossible.

I think that I should stop as I am getting technical.

I will test what has been said. There is another side to the story. In its submission, the Scottish Medicines Consortium accepts some of the argument that has been made. I am trying to get at whether you agree with that, given your experience. The SMC says that it

“recognises that efficacy data are ... often limited”

and adjusts its models to take that into account. It also applies different criteria to cost per quality-adjusted life year. The SMC says that it accepts your argument and has taken it into account in models that it applies.

The committee wants to hear your response to that. Perhaps we can start with that and work back. If witnesses feel that they do not need to say anything because someone else has said it, that is fine—they can sit out a question—but I want to spread the questions among the panel.

I come at this from a patient perspective and therefore tend to have more to do with individual patient treatment requests rather than the SMC approval side of things, but my feeling was that the SMC was still looking at these matters on the basis of what it calls the QALY, or quality-adjusted life year—in other words, the quality of the years that are expected to come—which is difficult to establish.

As for your worry that we might end up with 100 different rare disease charters, one thing that I have learned on my slightly steep learning curve is that although there are many rare diseases the treatment issues are all very similar. We have already had a meeting with Rare Disease UK about working on a steering committee to consider the commonality rather than the differences between rare diseases. The issue seems to come down to the QALY cap on the money available.

Aside from that, the SMC deals with IPTRs on the basis of expert advice and if the board were able to take the opinion of an expert who understood the system it would make all the difference. The SMC might say that it has consulted an expert, but it will not be the correct one. Even though the process might follow the wording that you have referred to, that particular expert might not actually be able to give us the information.

I suppose that the challenge lies in getting pharmaceutical companies to invest in research. It is clear that the issue has a European dimension, a Scottish dimension, a National Institute of Health and Clinical Excellence dimension and a new drug approval dimension. The fact is that much of the procedure is dominated by all those issues, even before we get to IPTRs.

The SMC can use certain modifiers for orphan medicines. That could be a positive move, but in our view, since their introduction in 2007, modifiers have made no difference to the proportion of medicines that are recommended. The problem lies in both the fact that the model is based on the QALY, which cannot capture the characteristics of rare diseases, and the fact that we are not entirely sure how and when the modifiers have been used. If they have been used, that information will be specified in the detailed advice document, but it remains unclear whether in practice they make any difference to the process and the decisions that are made. Instead of having a QALY-based model and using modifiers in a not entirely transparent way, we think that it would make a lot more sense to have an appraisal process that captures the nature of rare diseases and can appraise them effectively in the first instance.

To be honest, I am finding it difficult to get my head round this issue. I hope I am recapturing Mr Nutt’s comments, because I want to get them clear in my mind, but I think that he said that he did not expect every IPTR to be successful for every condition. Obviously, all committee members will be saying, “If this was me or my family, I would want this treatment, irrespective of how good or wonderful the guidelines might be”. Speaking for myself, I think that, if my request were processed under the guidelines but was refused, I would still be dissatisfied. As a result, I found Mr Nutt’s comment that he did not expect every request to be successful to be helpful, because it allows us to focus on how we might improve the guidance.

Do you think it reasonable that we look at how health boards manage the guidance that has just been published? We might well decide to monitor that—we will discuss how we take forward our work later. Do you think that we should follow the matter closely?

Because of the small number of Pompe sufferers, a Pompe patient will struggle to show that they are significantly different from other Pompe sufferers, which is required for an individual patient treatment request to be successful. Because of the small numbers, because the disease is so widespread and because the patient is so affected, it is difficult to prove that one patient is significantly different from the rest of the population.

There is evidence that Myozyme is an effective treatment for Pompe patients and can halt the progress of the disease. We therefore ask why someone has to be significantly different from the rest of the population if it has been proven that other patients respond to the treatment. Why do we need to prove that a patient is significantly different for them to access treatment?

I was making a more general point—it was not specific to Pompe or PNH. There are new guidelines, so it seems reasonable to monitor how those are applied across health boards. I will come back to those particular conditions but, in general, is it reasonable to want to monitor the impact for those with rare and orphan diseases?

Joan Fletcher’s answer illustrates how the new guidelines will not actually change the situation. That situation still applies and the new guidelines do not do anything that will necessarily alter it. There are positives in the new guidelines in relation to monitoring and the attempts to enhance the effectiveness and standardisation of IPTRs, but the crux of the problem remains, and the guidelines will not necessarily do anything to change that.

One strand is that we can get more information and clarity on the use of expert opinion in appeals. You have asked for more clarity on that, and we could seek to monitor that situation.

You make a strong point about how we gauge a patient to be exceptional. That takes me on to my next question. I understand that at the UK level there is a further consultation on the management of rare diseases across the UK and that the Scottish Government is participating in that. Is that an appropriate vehicle to tease out the question of how we get criteria that can deal with the exceptionality issue? We do not want to take evidence on the issue and then let it gather dust. We want to find out what the appropriate mechanism is for analysing the issue further. Would that be an appropriate vehicle?

Are you referring to the guidelines of the advisory group for national specialised services?

I will read out what I am referring to. I am sorry, as I do not know which of you submitted PE1398, but it states:

“We would also like to notify the Committee that a public consultation on a UK plan for rare diseases as referred to previously has been launched by the Scottish Government jointly with the other UK health departments. We have submitted this consultation document.”

Could that be a vehicle for further teasing out how we get fair and equitable criteria for deciding on individual patient treatment requests?

All three organisations that are represented here will highlight the issue in our responses to that consultation. For your information, I think that you are referring to the UK plan for rare diseases, which is out for consultation until 25 May. The four UK health departments have worked together collaboratively to produce that consultation document. We think that there are many weaknesses in it and we were disappointed with its contents—or rather, the lack of content. However, we will use the consultation as an opportunity to highlight our concerns, as we are doing today.

11:30

We can contact the Scottish Government and look at the consultation, but I am trying to tease out the best way forward. I have not another question but an observation on how difficult I find the matter as an MSP. I wondered what treatments are available in Scotland that are not available in England. The process throws up all different kinds of conflicts. Leukaemia is not an orphan disease, but in May last year a lot of media attention was given to about 1,000 leukaemia sufferers in England who were not getting access to a treatment that they would get had they been resident in Scotland.

A serious issue for politicians to grapple with is how to ensure that there are fair, equitable and transparent procedures and guidelines for making such decisions. I leave that issue sitting there. I genuinely hope that the committee can tease out a way forward that gives you fairer and more equitable treatment.

I will pick up on the earlier point. It is inevitable that some patients will be disappointed. We realise that we do not live in a world of unlimited health budgets, but we ask that fair and equitable processes are put in place for rare diseases. All the appraisals are currently done by both the SMC and the IPTR process under guidelines and frameworks that were designed for common conditions and which therefore do not capture the characteristics of rare diseases.

I have a couple of interests to declare. First, in a previous life I was a member of the SMC. Secondly, prior to being elected I provided some consultancy services to a public affairs company in London, which was looking specifically at the funding of medicines for an orphan condition. None of that makes the issue any easier for me to understand than it is for my colleagues. I am struggling to get my head round some of this.

On the arrangements for national risk sharing in Scotland as distinct from AGNSS, which was mentioned, when I last looked at the national risk-sharing scheme in Scotland in about 2009, there was a budget of £30 million. Most of the budget—£23 million—was for recombinant treatment for haemophilia. In principle, money is available for conditions that affect a small number of people but have a very large price tag attached to them.

The national risk-sharing scheme was devised largely so that health boards that were facing a financially significant cost and so which were at financial risk would not be exposed and could pool their funding arrangements through the scheme. It is interesting that none of the witnesses have referred to the scheme. Will you say a little bit about the national risk-sharing scheme and whether the medicines for the conditions that most concern you were considered for inclusion in that scheme?

I shall answer the broad question and Joan Fletcher can refer to specific issues.

AGNSS is a separate process.

Sorry, can I clarify that AGNSS is a formal process that exists in England but not in Scotland?

Yes. AGNSS makes recommendations to ministers in England for the commissioning of treatments or services for diseases that affect fewer than 500 patients in England. It has developed a decision-making framework to appraise drugs for very rare conditions. In Scotland, health boards can apply to fund treatment through the orphan drug risk-sharing scheme when medicines have been accepted by the SMC or, I believe, in the case of certain successful IPTR requests. The scheme is essentially designed to ensure that no one health board bears too much of the burden if there happens to be a cluster of rare disease patients in one health board area. In general, localism in relation to health is seen as a good thing, but one can see that that does not necessarily apply to rare diseases. It would be quite costly for one health board to bear the entire brunt of the cost.

I am trying to understand your experience of the scheme in Scotland. I understand that part of the eligibility criteria is that there must have been approval by the SMC. Has that been the burden? I also understand that there is a precedent for medicines that have not been approved by the SMC to go on to be included in the national risk-sharing schemes. Can you tell us your experience?

Yes. From my experience, Myozyme, which is a treatment for Pompe disease, is not recommended by the SMC but is included in the risk-sharing scheme. To get that, we need a successful IPTR from the local NHS board.

So, the barrier is the IPTR process.

Yes. It is included in the risk share, but first someone must be successful in that process.

And that is why it is available in some health boards but not in others.

That is the question that we are asking: why the inequality? We do not know why there are inequalities between different health boards.

To be fair, it comes back to the individual criteria. As we heard earlier, something can be available not just in one health board and not in another but to one person in one health board area and not to another.

Yes.

That goes back to the dual problem that I was speaking about earlier. Almost half of all orphan medicines will not be recommended by the SMC, so in the absence of such a recommendation, patients will have to go through the IPTR process, which leads to a postcode lottery.

Can we just be clear about this? When a medicine is approved by the SMC, it is automatically included in the national risk-sharing scheme and will then be made available to all patients with that condition in Scotland.

Yes.

But when it is not approved, the evidence base is made available to the national risk-sharing scheme and it can be included, but it is up to individual consultants or clinicians to apply through the IPTR scheme.

Yes, that is right.

As far as I know, Eculizumab, the drug that I am on, is not part of the sharing scheme. I will look into that, because I was not aware of it as a patient. It is quite new to me. I imagine that my drug would fall under the same criteria as the Pompe drug.

I do not want to pursue this line further, but it would appear from what the other witnesses have said that there is no reason why the medicine that you mentioned would not be included in the risk-sharing scheme, particularly since there is still a further barrier that consultants and patients have to go through. Perhaps that is something on which the committee could seek clarification.

Yes.

I like to try to look at these things as logically as I can. Let me lay out the issues and see whether you agree. First, there are rare conditions and you would submit that at the moment the SMC general approval system, with its QALY levels, even with the modifiers, is not adequate to take them into account. That is your first point. We do not know whether the modifiers listed in the SPICe briefing are effective, adequate or whatever; you just feel that the system is not appropriate.

At a second level, there is the question of what NICE terms ultra-rare conditions. The Scottish Government does not recognise that term and neither does the SMC and it could cover the very small numbers—for example, the tiny numbers of people who have the Pompe condition—that mean it is impractical to operate the system at a Scottish level. It might even be difficult at a UK level, but it is certainly impossible to produce the proof at a Scottish level of a Scottish cohort.

Therefore, there is a separate problem in that the term “ultra orphan drugs” is not recognised and the mechanism for approval by the SMC is, in your view, not appropriate. Am I correct about where things stand at that level of approval?

Yes.

Yes.

I certainly agree with that. You have captured the issue, which is that, in the first instance, there is the problem with the SMC, which causes the knock-on effect in the IPTR process. The term “ultra orphan” is generally accepted among the rare disease community, but there is no formal mechanism for recognising an ultra orphan disease in Scotland.

Is “ultra orphan” a European term as well? Is it recognised anywhere in European licensing conditions or is it defined anywhere?

It is generally accepted that such diseases affect fewer than one in 50,000 people in the general population.

That is helpful.

That definition is used in Wales as well.

We do not have an advisory group for national specialised services and we do not use the English service for conditions that affect few patients—50 would be the rough equivalent in Scotland. Is the fact that there is no equivalent mechanism through a separate organisation in Scotland part of the problem? Is part of the problem that the SMC deals with everything and does not have the ability, as NICE does, to pass something to another organisation that has the specific task of considering it?

Yes.

That captures the issue in a nutshell.

Have your groups suggested to the Scottish Government that we should use AGNSS as a mechanism for looking at approval rather than set up a separate mechanism for very small groups? Have your groups suggested that we should simply buy into the AGNSS system? Would that mechanism be helpful?

It certainly would. AGNSS does not just fund the treatment; it funds the services, and it constantly monitors them and reviews the service agreements with the healthcare providers that it uses. It constantly monitors what drugs it has approved to be used and when they should be used. It is not simply given an open blanket of money, and it does not simply say, “We will approve all these drugs.” It continually monitors which drugs should be used, whether they should continue to be used, when they should be used, and when their use should be stopped.

So if they are ineffective—

There are guidelines to stop treatment if they are ineffective.

We might try to find out about that.

In Scotland, we have the national services division as part of NHS National Services Scotland, which runs national services. Are the treatment systems for Pompe disease and PNH managed by the national services division or another mechanism?

Pompe disease is managed by—

The NSD.

Yes.

I am afraid that I do not know the answer to that question. I am sorry.

If something is not approved by the SMC, we will be into IPTRs of course. I understand you to be saying that because the numbers involved are so small, it is impossible to determine that an individual patient is different from the general population. The criteria that would apply to IPTRs for the latest prostate cancer drug, for example, for which there might be significant numbers of applications given the hundreds of individuals involved, would make it possible to demonstrate a difference in that group, but it is not possible to demonstrate a difference where the numbers are so small.

Yes.

Yes.

There is something that I do not understand, which I would value comment on. Why on earth do we use the IPTR system for orphan or ultra orphan conditions? I think that we have been told that there are only 11 cases of Pompe disease and 22 PNH cases. A system with 14 separate IPTR committees potentially considering matters is incredibly bureaucratic and wasteful. Have you proposed that we should have a national system of approval for IPTRs for orphan and ultra orphan drugs?

11:45

Although in Scotland there are 22 patients who have the condition that I have, only 12 of them are recommended for the drug. At the moment, there are three who are not funded. The experts are already aware of what makes a patient suitable for the drug—they already make that difficult decision. The number that we are talking about is even smaller. We are not saying that, because there are 22 patients, we are looking for 22 people to be on the drug. Only about half of the patients are suitable for the drug. There has to be a different method of handling such very small numbers.

I come back to the point that, with the IPTR system, if the appeal panel does not take the correct specialist information, it will be very hard for patients to get funding. When appeals have been turned down, families have told me that they were told that they were turned down “on good medical advice”, but the medical advice came from a local haematologist who did not have expertise in PNH. That is where the wording of the guidance comes in. We can wait and see how such patients go, but we must remember that we are talking about people’s lives. This is literally a matter of life and death. I do not mean to sound dramatic, but I am being honest when I say that I cannot wait to find out whether these patients can find a different way of getting on the drug. At the moment, I am talking about three patients who need to be on the drug and for whom waiting would not be acceptable.

I echo what Lesley Loeliger said. We had 11 Pompe patients when we first submitted our petition. Three patients are already receiving treatment. We have another three patients, two of whom have gone through appeals and been refused treatment, despite the fact that independent clinical experts have recommended that they should receive it. Two people have moved to England. We are talking about a small figure. The number of people who need treatment at the moment is three. Three patients are not eligible for treatment under the guidelines. There are three patients in Scotland who are eligible for the treatment who are not receiving it.

Mention has been made of the clinical experts. We have had clinical experts give evidence to say that a patient is suitable for and would benefit from treatment, but they have still not been given it.

I understand that, in the case of PNH, there is an expert who is based at Monklands. In a number of cases, that national service has recommended treatment, but that recommendation has been rejected by a local board with an IPTR panel that has not had a clinical expert on it.

That is right.

In your view, the new guidance is not sufficiently tightly drawn to ensure that there will be a genuine expert on such panels.

A simple change could be made to the relevant sentence. A couple of words could be added to specify the level of expertise that is required. A panel that was dealing with my situation would have to have a PNH expert on it. That is all that I would want. Sometimes letters of support have gone in to appeal panels from our Scottish PNH expert and have not even been considered.

The point that I have always made is that we are not looking for blanket coverage for all patients. With some patients, the experts have already taken the very tough decision that they are not suitable for the drug. I hold a patient group that meets every three months at Monklands. Patients will come to me and say, “I am not suitable for the drug,” because that determination has been made; it is not a case of someone who does not fully understand the condition saying that they do not think that they are suitable for the drug.

That is very helpful. My final question is a highly technical one. Am I right that the treatment for PNH to which you refer has a number needed to treat of 1, which means that, for every patient who is treated, there has to be one success? If the number needed to treat is 5—that is, if we have to treat five patients who have the condition to get one success—that hugely alters the cost ratios and makes the decision-making process much more difficult. However, the other day, someone said to me, “Ah, but the treatment for PNH has a very specific number needed to treat, which is 1.” In other words, if we treat a patient, the treatment will be successful, provided that the patient meets the criteria for the drug in the first place.

Yes. Eculizumab has proved to be one of the most efficacious drugs in the world. During the initial trial of the drug it proved so successful that people had to stop giving the placebo to patients in the control group, because it was not fair on them. It is an amazing drug.

It was originally thought that Eculizumab would give only a better quality of life. I am not daft; I understand why it might not be worth spending a huge amount of money just on that. However, it is now understood that Eculizumab returns a normal life expectancy. The most recent research, which was done by an expert down south and the results of which have been demonstrated worldwide, shows that the drug gives me my life back. It gives me a proper life expectancy again.

That is very helpful.

I thank all the witnesses for their approach to the matter and for sharing their detailed knowledge. I am also grateful to members of the committee who are better versed in the issues than I am.

As Bob Doris said, something that comes across in the papers on the petitions is the inequalities in the UK, when NICE approves a drug and the SMC does not—that is the pattern with which we are more familiar, but it must operate the other way round, too. When that happens, it must compound people’s sense of injustice, because they might know or be in touch with people who have a similar condition, perhaps through a patient support group, who live on the other side of the border and have different access to treatment.

When a different conclusion is reached, although the interpretation is based on exactly the same evidence, is that explained in a way that is understood, at least, or does it generally just leave people bewildered?

Are you talking about when someone is turned down for funding in the appeal process?

I was thinking about situations in which the SMC and NICE take completely different positions.

Oh, sorry. I think that that is a question for Stephen Nutt.

I should clarify that NICE generally does not appraise orphan drugs. NICE recognises that such drugs are not appropriate for appraisal through the cost-per-QALY method and I think that it has appraised only five of the 74 orphan drugs that are available. My co-petitioners’ drugs are made available in England because they are commissioned on a national basis. There is a separate decision-making framework for such decisions. In essence, we are looking for a similar approach in Scotland.

That brings me back to what I said about how local decisions are not necessarily best in the context of rare diseases. A framework that enabled decisions in such cases to be made in Scotland would be highly beneficial.

Whatever the process is, is the determination expressed in a way that can be understood, or does it leave people bewildered?

I can speak from the patients’ perspective. Patients come into the patient group and say, “I’ve been turned down and I’ve been told that it was on sound clinical grounds.” That seems to be what they are told. They know that there is an amazing drug for their condition, because they know that when I was not on the drug I had to be carried upstairs and changed, because I physically could not do anything, and now they see me looking perfectly well, despite my having PNH. They know that Eculizumab is an exceptional drug, which would get them out of their depression about not being able to work or do anything. All that they are told is that the decision was based on sound clinical grounds, which makes no sense for patients who have seen the effects of a miracle drug. It is very depressing for them.

Right. In terms of what is at stake, we are talking about a life-and-death issue, but the decision is explained no better than a delay on a train journey is explained, when we are told that we are not moving for technical reasons.

Yes, there is a lack of information.

I bow to members who have specific knowledge—I am playing catch-up with members such as Mr Eadie and Mr Simpson. I am looking for a wee bit of clarity. Did one of the witnesses talk about a case in which a patient was approved for treatment at Scotland level but the IPTR was turned down by the local health board?

I think that you are referring to cases in which the Scottish and UK PNH experts recommended a patient for the drug but the patient was turned down at regional level.

That is the clarity that I was looking for. Was the Scottish expert’s input part of the statutory process, or did they lend their support to an individual? If I or someone in my family had such a disease, I would want to go to that person for a letter of support. I am wondering whether the Scottish expert’s input was part of the mechanism.

It was not part of the process—that is my wording, because as it turned out, in one appeal panel in the region that I have been talking about, the local haematologist who was considered to be the expert was aware that he was not an expert and, off his own bat, requested a letter of support from the Scottish expert, Dr Lindsay Mitchell, to say that the patient required the drug. The letter went in but was not considered.

The key point for me has always been that Dr Mitchell is the person in Scotland who has the knowledge—there are also experts down south, who come up every three months to see patients at Monklands hospital. Those are the people with the expert knowledge.

Was the local individual who had asked for input from the national expert part of the statutory process? Did someone at local level say to them, “You are the local expert; give us your opinion”? I am trying to understand who was in the system and who was outwith it.

The local haematologist was on the appeal panel that was considering the funding.

That is helpful—that is what I wanted to establish. I am sorry for being long-winded.

If there are no further questions, I thank the witnesses for being with us. I would like to say that the meeting has clarified matters, but of course it has not done. However, it was very useful to hear your evidence, which is valued. The committee will discuss how we proceed with the petitions. I thank you again for coming and for your useful evidence.

Thank you.

Thank you.

Thank you.

As we agreed previously, we now move into private session.

11:57 Meeting continued in private until 12:35.