Fibrodysplasia Ossificans Progressiva
(7 months, 4 weeks ago)
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Mr Deputy Speaker (Sir Roger Gale)
We now come to the debate on funding for the prevention of fibrodysplasia ossificans progressiva, or FOP for short. I call Sir Mike Penning to move the motion.
Sir Mike Penning (Hemel Hempstead) (Con)
I beg to move,
That this House has considered funding for the prevention of fibrodysplasia ossificans progressiva.
Thank you very much indeed, Mr Deputy Speaker. I am pleased you have pronounced it rather than me; from now on, perhaps we will just use FOP, which is what most people—including the families—call it, but the scientists do not.
FOP is a genetic condition; it is not an illness or a disease, as it is called all too often. It is very rare—one in a million. In this country, about 70 people alive have FOP, including about 30 young people and children. If we replicate that around the world, it is a very rare condition. The condition is probably the biggest nightmare for any parent, or anybody who loves a child.
Let me give an example: I played rugby, and I bruised very regularly. I stopped playing fairly recently, but when I did play rugby, I would bruise. For those who have FOP, there is a good chance that that bruise will turn to bone—skeletally, it will turn to bone. Most of us want our young children to be inoculated, and we have been through an inoculation process during covid, which I was very much involved with, but if someone with FOP has an injection there is a good chance that that trauma will turn to bone. I have circulated privately to the Minister, Mr Deputy Speaker and others some photographs of what that trauma can end up like and does end up like.
I got involved in this issue when a couple came to see me in my constituency and said, “Our daughter has FOP”—as a dyslexic person, I cannot say it to this day, although I have practised and practised. I had no idea what they were talking about. It is a bit like the previous debate: when we first heard about Primodos and the problems with it, most of us in this room had never heard of it. FOP is much rarer than the conditions suffered by the victims of Primodos that we have been talking about, or of mesh, valproate or any of those things, but the effects on those individuals and their families and loved ones are profound.
My constituent said to me that, as a mum, she looked at her baby and thought there was something wrong with her toes. The initial diagnosis from most paediatricians would be bunions—bunions on a new-born baby. My wife has bunions, but it is nothing to do with what she was born with; it is to do with the quality of the shoes she wore as a young lady. She will not mind me saying that, because we have discussed this case before. It is only sometimes, when people get in front of the right expert, that they get the diagnosis for what is a completely incurable, progressive condition and find out what they have. That is what happened with my constituents. There are three consultants in this country who have that capability, and they were lucky that they got in front of one. I pay tribute to the Portland Hospital where the diagnosis took place.
What does this mean for a young person? There are young people in the Gallery this afternoon who have the condition. I think the little ’un has gone home now because she was rather tired, and she helped me deliver a letter to the Prime Minister at No. 10 earlier today. What does it mean for them? It means that their whole life is different. Do we want to wrap our children up in cotton wool? No, of course we do not. Even if they have FOP, do we want to wrap them up in cotton wool? No, we do not, but they have to be extremely careful about inoculations, bruising, sport, and rough and tumble.
My constituents are very lucky. I have a very forward-thinking planning department in my local authority, which used the delegated powers it has to grant planning permission on the green belt—the green belt that I fight to protect in my constituency—so a specialist house could be built for Lexi, and she has the facilities where she can have the safe upbringing she needs. Lots of people were very worried about permission being given in that way because the condition is so rare, and I had people saying to me, “Are you really sure this baby’s got this condition, and is this not just circumventing the planning rules?”. It was only when I circulated some of the photographs, which many colleagues in the House have, that people said to me, “Okay, we get it,” and two of them actually said, “We’re really sorry. We get it.”
Because the condition is very often not visual in the early stages, there is no understanding of it. It is a bit like a mental health condition. We have much better ideas about mental health these days, but when we walk up to someone, we do not know whether they have such a condition. If people go up to Lexi today, they would not know that she has FOP, but they will do in the next few years, when it will become pretty obvious. The interesting thing about FOP is that there is no set plan or rule for it. In some cases it progresses very fast, the bone grows very quickly and the effects on the skeleton, movement and mobility are very quick, but in others there are short bursts of it, while sometimes there is nothing for years and then it will progress again.
Given the reason for this debate—and I apologise to the Minister, to whom I have spoken privately about this—I did not want the Minister for Health and Secondary Care on the Front Bench. I wanted the Minister for Science, Research and Innovation on the Front Bench. It is nothing personal, but this is not an NHS issue. It is a condition that needs scientific expertise in research and trials, which is in the Science Minister’s portfolio. I understand why, as soon as we start talking about anything to do with health, the Health Department goes, “That’s ours,” but on this particular occasion, it is not.
Liz Twist (Blaydon) (Lab)
Can I just say that I concur with the right hon. Gentleman’s comments about research and health research? There is a concern about how it is being handled.
Sir Mike Penning
I thank the hon. Lady for that intervention.
Earlier, we had a short statement on Horizon, which was excellent in that the Science Minister was on the Bench, and when I asked the Secretary of State a few questions about FOP, he agreed to meet us in short time. The great news is that we will meet the Science Minister. The key to what was announced earlier is that work was being done before covid—and there is work on FOP being done around the world—and there was funding from Horizon for trials on FOP. The big issue was that covid interrupted the trials, not our leaving the EU. I am sure some colleagues will say, “Ah, that’s what it’s all about.” No, it was nothing to do with that; it was covid that affected it. I put that on the record straightaway, and we now have the great situation that Horizon is back on stream.
One of the reasons I wanted to see the Science Minister on the Front Bench was to ask him this question. Perhaps colleagues in his office can elaborate on this before I meet him. The trials were halted because of covid, but have we got to start from scratch again or can we move on with those trials? I am old-fashioned and I used to be called a Eurosceptic, but we are now out of the European Union, so that is great. One of the things that was said is, “Well, you don’t want to co-operate with Europe,” but of course we want to co-operate with Europe. The announcement today on Horizon is a classic example, and the classic example of why we have to collaborate not just with Europe but with America and other parts of the world is that this condition is so rare and we could not do trials here. The scientists in America have a much bigger base on which they are able to do trials, and we need to learn from them and they need to learn from us.
So it looks sensible that we will be back in the European trials, but I am petrified about whether we will have to wait for Horizon to announce bidding on a certain part of the scientific research, and then wait a couple of years for that decision to be made. That is what tends to happen with these projects, but we are already in the middle of the project.
In trying to work out the best route forward—I am not a scientist; I am looking at this as a dad—we need two things. Research is going on into how we prevent the progression of FOP in the bone structure when there are traumas, and whether there is something early on that we can turn off. Is there research out there that can predict that? At the moment there is not, I understand. We have two situations. Can we in some way look at the future and at anybody who, family-wise or genetically, is likely to get this condition? Secondly, if a child has got it, how can we slow down progression? The families here with me today, and those in FOP Friends, would argue that they have this condition so they need help and research now, but we also need research to prevent what is going on genetically.
It also worries me how we need to spread knowledge about FOP around the world, not just in this country. In some parts of the world, almost no FOP babies are born. Just on a law of averages, that is not possible, and it has already been proven that there is no cultural link. Some genetic conditions are linked to what part of the world someone might have come from, but apparently they have already done research on FOP, and that is not the case. What is happening in parts of the world where babies are not born deformed and people do not instantly know. That sort of research desperately needs to be done. Lots of work is being done in Boston and around the world, but it is key that we are back as an associate of Horizon. Can we start not from scratch but halfway through and where we were before covid hit the project?
In a perfect world, we in this Chamber, and the families, would like to be able to press a button, perhaps give a tablet, and stop this progression. It is the most awful thing to be sitting there, waiting for your child to perhaps have a bump, a bruise or a progression. As a group, FOP Friends make sure that everybody talks to everybody. It is better learning from other people who are in the same situation and not having to reinvent the wheel every five minutes. As I said earlier, people are desperate not to wrap their child in cotton wool, and to give them as much of a normal life as possible. Earlier I was talking to the chair of FOP Friends. He was playing badminton with his son who has got FOP, and I think he loses on a regular basis. There are things that can be done, but the problem with the condition is that it is not the same in every child. It will be different in every child, and it is different in its progression.
That is why this debate is so important, and I thank the Backbench Business Committee for agreeing to it. It is not a normal sort of debate. We have had a debate in Westminster Hall on this issue, which has such a dramatic effect on the lives, futures, aspirations and dreams of those families whose lives are affected by FOP. I thought, and my colleagues thought—some of them could not be here today—that we should bring this subject to the Floor of the House, so that we could find out where this research is going.
Liz Twist (Blaydon) (Lab)
I thank the right hon. Member for Hemel Hempstead (Sir Mike Penning) for bringing this debate to the Chamber and for all the work he has been doing to raise these important issues within Parliament. It was good to hear such a fulsome and good description of the condition and how people are affected by FOP. As chair of the all-party parliamentary group on rare, genetic and undiagnosed conditions, I am glad to be able to take part in this debate to highlight the issues facing people with FOP.
We have heard from the right hon. Member about just how debilitating this condition is. Usually caused by a gene mutation, FOP is the only known condition where the body changes one organ to another. Bone forms in muscles, tendons and other connective tissues, progressively and irreversibly restricting movement. This severely limits the ability of those affected to perform the most basic tasks of daily life. Children with FOP lose their independence just at the point they should be gaining it. Many of the issues affecting families of children with FOP are experienced by other people across the rare disease communities, including long diagnostic odysseys.
Sir Mike Penning
I apologise for interrupting so early in the hon. Lady’s speech; she is generous in giving way. One of the bits that I think I missed in my speech is that FOP is not a disease; it is actually a genetic condition. For the families, that is really important. Americans talk about FOP as a disease rather than a condition, but really and truly it is a genetic condition that someone is born with, rather than something that someone would contract.
Liz Twist
I thank the right hon. Member for making that clear. He is right that it is important for the families. Sometimes in this House—even in our APPGs—we use a kind of shorthand about issues to bring people together. FOP is indeed, as he said, a genetic condition.
The rare disease community has some issues in common, including those long diagnostic odysseys. How long do people have to wait for their condition—I will use that term—to be recognised? There is a lack of clinical awareness with many of these conditions and limited treatment options for far too many people.
FOP, as the right hon. Member has said, is perhaps one of the rarest and most disabling of these conditions, with no treatment or cure. Within the rare conditions community, a diagnostic odyssey, as he will know, refers to a common scenario in which delays to accessing the right support and the right treatment—where it exists—can cause irreversible deterioration of an individual’s condition. While there is no treatment for FOP, repeated investigations, such as biopsies, can trigger the condition’s progression. That can be triggered by trauma, too. Furthermore, delayed diagnosis prevents parents from taking action to keep their children safe from situations and activities that could trigger injuries and flare-ups.
Unfortunately, a diagnostic odyssey is the norm for many children with FOP. Getting a diagnosis takes one and a half years on average, and more than half of people with FOP get the wrong diagnosis in the first instance, as we have heard. Despite genetic tests being available, FOP is not included in the national genomic test directory for rare and inherited conditions. Can the Minister explain why it is not included in that directory? What plans do the Government have to change that position?
The real hope for FOP, as we have heard, is new research. Like much of the research into rare conditions, it is likely to have far-reaching benefits for more common illnesses, such as osteoporosis, childhood brain cancer and heart disease. At the moment, the Government are overseeing a decline in research and international life science competitiveness, with commercial clinical trial activity in the NHS declining over recent years. We have heard from the right hon. Member for Hemel Hempstead about the STOPFOP trial, which is supported by funding from the European Union’s Innovative Medicines Initiative as part of Horizon 2020. Is it not ironic that we are discussing this on the day we have heard that we are now in the Horizon programme? Thank goodness we are; it is an important move. However, there have been two years of wasted opportunities and uncertainty for people going through trials and research, such as people with FOP.
I understand that researchers would have to apply for new funding from the scheme to carry on with the STOPFOP trial. How will the Government ensure that funding continues to be available to allow the trials to continue, and to ensure real progress in diagnosing and treating FOP?
As the right hon. Member for Hemel Hempstead said, time really is of the essence if we are not to lose the benefit of the work already done and if we are to give those with FOP, and those who may be born with the condition in future, the best chance of the earliest possible diagnosis and treatment.
Jim Shannon (Strangford) (DUP)
It is a pleasure to follow the right hon. Member for Hemel Hempstead (Sir Mike Penning) and the hon. Member for Blaydon (Liz Twist). I thank them for their contributions, particularly the right hon. Gentleman for setting the scene.
FOP is an extremely rare condition, but it is important that the matter is aired in the Chamber and the right hon. Gentleman has done that well. He is probably right that the relevant Minister is not here. That is no disrespect to the Minister who is here—we know that he is an honourable person, who will respond positively within his remit. If another Minister needs to take the matter on board, we look to the Minister who is here to make the case persuasively to them, and hopefully we will get a response.
When the right hon. Member for Hemel Hempstead asked me whether I would come along to support him, I automatically said that I would, because the debate is about a health issue, health is one of my portfolios and I wanted to understand the condition. I have always had a particular interest in rare diseases. Long before I came here, I was a member of the Northern Ireland association for rare diseases. I am therefore particularly interested in the subject.
I will be honest: I knew little about FOP. I had to research it, and the right hon. Member for Hemel Hempstead gave me some pointers. It was so interesting to read about it and to learn how rare it is and how little we know about it. FOP is an exceptionally rare genetic condition, where soft tissue develops into bone, creating a second skeleton. The right hon. Gentleman illustrated the condition clearly when he described the bruise, the bump, the jag or the discomfort. Around 70 known individuals are diagnosed in the UK, and the disorder has been described as impacting “one in a million.” That gives an idea of the rarity of the condition.
The House is tasked with highlighting the issue and raising awareness, and I hope that the debate will do that. As far as I am aware, there are only two known cases in Northern Ireland, and they are twin sisters. I do not have their permission to name them, and I would not do that, but there has been public information about the case.
Sir Mike Penning
My hon. Friend has touched on the really important point of the lack of diagnosis. If we know that one in a million children will be born with it, the calculation for the world population is pretty obvious. We are nowhere near identifying the numbers that should be out there. In my constituency and in any other hon. Member’s constituency, there are probably children who have been born with the condition. However, the length of time it takes to get a diagnosis—because the test is not part of the programme—is the most important thing. The condition can be tested for if there is a will.
Jim Shannon
The right hon. Gentleman has made a simple request about diagnosis. Perhaps awareness can be raised of the simple test, which it is so important to do. I understand that the twins in Northern Ireland are rightly keen to raise awareness of the issue.
Such rare diseases are often ignored. Most people—including me before this debate—have little or no idea what it is or, more importantly, what we can do to raise awareness. But today we can use our position as MPs to highlight the issue, with the co-operation of the Minister and the shadow Minister. I cannot for a moment imagine what it must be like to grow up with a condition about which there is little or no information, not to mention what it would have been like when the twins were children, when there was no cure or treatment for the condition.
Early and correct diagnosis is key to changing the life of someone suffering with FOP, as the right hon. Gentleman said. This debate is a request for hope and for progress for our constituents. The purpose of this debate is funding, with the hope of a potential trial of the existing drug Saracatinib, originally developed by AstraZeneza as a cancer drug. The underlying issue is that if the STOPFOP trial is not completed, the money spent on it will be wasted. Given the progress of trials and the advancement in medication, it is right that every effort should be made to try to find that money to ensure that the investigation into that treatment takes place.
Sir Mike Penning
Like all clinical trials and all things in health, there are other things the trial could help with. I am not a scientist, but it has been put to me that while we are looking at clinical trials into FOP, there may be help for osteoporosis—brittle bones—and skeletal damage, particularly that suffered by the military. Even though we are talking about a tiny percentage of the population with FOP, the population with brittle bones is huge. It seems that there is very little cure for it apart from taking calcium tablets. If we get the principle right on what is causing the bone growth, perhaps the research can be extended past FOP and we can help millions of people in other areas.
Jim Shannon
The right hon. Gentleman is absolutely right. Whenever trials take place there are always benefits, although perhaps not the intended ones. None the less, the focus can be larger, whether it be brittle bones or whatever. What was originally a cancer drug has been found to be beneficial to those with FOP.
As initial funding for the trial is running out, the main asks are to ensure that additional funding is allocated, while ensuring that secured funding extends to allow the trial to include children, especially the screening of new-born infants—as the right hon. Gentleman has referred to. Many have said that early and correct diagnosis is key to changing the life of someone with FOP, so I cannot imagine how the trial could not extend to newborns and extremely young children.
Raising awareness is how we will improve treatment for the condition. I have been made aware that there are only three knowledgeable FOP clinicians in the whole of the United Kingdom of Great Britain and Northern Ireland. That leaves patients often finding themselves treated by doctors with little or no FOP knowledge, which is rather disappointing, but focuses attention on those three clinicians. Like other conditions, patients must battle to be heard. Being aware of what to look out for is crucial: shortened or turned-out toes in young children raise concern, but if combined with tumour-like swellings, FOP is almost certain. It has also been raised that many patients are given biopsies and misdiagnosed with cancer. Others have had limb amputations, which perhaps was not the right way forward, but a response to not being quite sure what the problem is.
Having better access to a wider pool of experts would make a huge difference in diagnosing and treating people correctly. The charity FOP Friends, based in Oxford, is fantastic at supporting families. I have also seen some of the social media pages of parents of children who have FOP. Their work is absolutely incredible.
Sir Mike Penning
I thank the hon. Gentleman for giving way—thank goodness we have plenty of time to debate this issue. As he alluded to, there was a petition on social media, which was signed by well over 100,000 people. The Government’s response—I should have mentioned this to the Minister—is that they have funded research into FOP, but I am afraid that does not appear to be the case. They have funded research into rare diseases, not FOP. That is probably crucial when it comes to the public’s belief in what we do in this place.
Jim Shannon
The Minister took note of what the right hon. Gentleman said, so I have no doubt that there will be a response. The Minister has a genuine interest in the subject and I hope we will all be encouraged by what will have been said.
The parents are the main drivers of the campaign and the effort going into it is truly incredible. Many different people are making an effort with FOP Friends, whether the families, clinicians, those involved in clinical trials, ourselves as Members of Parliament, and, ultimately, the shadow Minister and the Minister.
To conclude, I thank the right hon. Member for Hemel Hempstead again for raising this issue with us today. He speaks so highly of his constituents. He does it all the time, by the way, but he did it again today. He has indicated to me that he is not running for Parliament again. We will miss his constant and compassionate commitment, interventions and speeches in this Chamber. He does not always do what his party wants him to do, but he always does what is right and that is what I admire about him as an individual.
It is important that we do all we can to help those with this condition to cope. We must do more to fund research into this trial. I sincerely look forward to hearing about developments in the future. To give those with FOP a better quality of life just like the rest of us, we need the Government and the Minister, from whatever Department, to help deliver just that.
Ronnie Cowan (Inverclyde) (SNP)
I congratulate the right hon. Member for Hemel Hempstead (Sir Mike Penning) on securing the debate. I apologise if I stumble between illnesses, diseases and genomics; this is not my specialist subject.
Rare illnesses are collectively widespread. There are thousands of different rare diseases and illnesses, and each one can require highly specialised treatment. That means that people living with them can face the prospect of a long “diagnostic odyssey” before they are accurately diagnosed and able to access treatment. The various aspects of their treatment and care also often lack co-ordination. It is vital that we continue to strive for improvement and ensure that all those living with a rare disease get the right diagnosis faster, and can access co-ordinated care and specialist treatment.
The “UK Rare Diseases Framework” was co-produced by the UK Government and the devolved nations. It sets out the key priorities for the next five years for improving the lives of people living with rare diseases. Each nation committed to producing their own action plan based on how those key priorities will be implemented. The Scottish Government understand the importance of the framework and are committed to implementing the 51 commitments outlined within it. They also welcome the progress that has been made in Scotland in delivering genomic medicine and empowering patients through the UK’s rare diseases forum.
In December 2022, the Scottish Government published their “Rare Disease Action Plan”, which was developed through significant engagement with the rare disease community. Through their combined efforts, the Scottish Government will ensure that they are putting those living with a rare disease at the heart of policymaking, ensuring this meets the needs of the rare disease community in Scotland while reaping the benefits of a four-nation approach. The Scottish Government’s action plan sets out four key themes to implement the UK rare disease framework: ensuring patients get the right diagnosis faster; increasing awareness of rare diseases among healthcare professionals; better co-ordination of care; and improving access to specialist care, treatment and drugs. The Scottish Government remain fully committed to ensuring that there is continual improvement in supplying patient-centric care that is safe and effective for those living with a rare disease.
The genomic medicine landscape is developing rapidly. In the last five years we have seen the implementation of impactful genetic testing for a variety of conditions, which has helped to inform patient treatment, allowing patients to receive the right treatment at the right time. Pathogen genomics is also helping to deliver “precision public health” by guiding investigations of infection outbreaks, antimicrobial stewardship, better-targeted disease control, and infection surveillance.
The Scottish Government published “Genomics in Scotland: Building our Future” in March this year. The Scottish Government’s strategic intent is to deliver an equitable, person-centred, population-based genomics service and infrastructure for Scotland. This publication is the first in a series, setting out the Scottish Government’s strategic vision for Scotland’s genomics future. They will publish a series of documents in the future, explaining how they will deliver genetic services that will allow Scotland not only to treat disease but to prevent ill health before the prevalence of symptoms. Scottish physicians and scientists have been actively participating in the advancement of genomic medicine over the past three decades. Scotland has a great foundation to build on within the NHS laboratory network, but it is important that these laboratories are fit for the future, as we know that genomic medicine is on a steep trajectory.
Achieving the Scottish Government’s ambition of having a genomics ecosystem with the infrastructure to support it will require investment in rapidly evolving technologies, skills and facilities. The Scottish Government will be innovative and adaptive to change, working collaboratively through the triple helix approach with academia, industry and the public sector to harness the opportunities at their disposal and deliver an integrated approach to genomics across Scotland. Their genomics strategy aligns with their rare disease action plan, and they will engage with the Rare Disease Implementation Board, as well as key rare disease organisations such as Genetic Alliance UK, to ensure that the strategy is informed by those who will benefit most.
While I see the intent and acknowledge the money being spent, it is clear that far more money is required to fund the research that is needed. The UK Government have overspent tens of billions of pounds on the Ministry of Defence, Crossrail and HS2—and, ironically, PPE during a health crisis—which shows that the money is there, but it must be spent wisely. In Scotland, following the 2022-23 emergency budget review, genomics was allocated a revised budget of £5 million. Through the funding allocated so far in 2022-23, the Scottish Government have established the Scottish Strategic Network for Genomic Medicine and funded a genomics transformation team within the NHS National Services Division, led by a consultant clinical scientist and supported by clinical leads for rare disease and cancer.
Genomic medicine is an integral part of precision medicine and precision health. It can lead to earlier and more precise diagnoses, as well as more targeted prevention and management of diseases. Over the next five years, the genomics landscape in Scotland will be transformed as we work to ensure that patients have equitable access to timely, personalised and high-quality genomic medicine for a range of conditions, including FOP.
Karin Smyth (Bristol South) (Lab)
It is a pleasure to be here this afternoon. I thank the Backbench Business Committee for granting the debate and pay tribute to the right hon. Member for Hemel Hempstead (Sir Mike Penning), who secured it and who has tirelessly campaigned on this issue with his constituents and the charity FOP Friends, who I understand have joined us today in the Public Gallery. I pay tribute to the families’ tenacity and bravery in raising the profile of this rare condition, and in continuing to do so. I also thank my hon. Friend the Member for Blaydon (Liz Twist), the hon. Member for Strangford (Jim Shannon) and the hon. Member for Inverclyde (Ronnie Cowan) for being here this afternoon.
One of the great privileges of our role here is learning from the experience—sometimes the very difficult and harrowing experience—of our constituents, and learning from them about subjects that we might not ordinarily have come across. I have certainly learnt a great deal from preparing for the debate, and also this afternoon. I am grateful to the right hon. Member for Hemel Hempstead for helping me to understand the impact of this condition, which he has done so eloquently and powerfully today on their behalf. I know that he worked with my office and other offices to ensure that all of us were well informed.
As we have heard, this is an ultra-rare condition, affecting only one person in 1 million, and there is currently no cure. However, we also know that what action can be taken is effective, both in diagnosis—which is crucial—and in care, and that people can some people can enjoy have good general health and reach old age, which I have been told is now over 60. It is my birthday this week, so that is quite close. I do not think it is old age, but they can certainly live for quite some time.
Early diagnosis is vital to managing the progression of FOP, and the average age of diagnosis, as I understand it, is around eight years old—as we have heard, the early signs include under-turned big toes—but greater awareness would mean earlier diagnosis for children with FOP. Families who understand that something is not quite right would be comforted to have that diagnosis. As we know, young children are not particularly careful or robust and, although we understand the dangers of immunisations into muscle, it would be a positive step forward for FOP.
Fifty-two per cent of people with FOP initially receive an incorrect diagnosis, creating more delays in care, with swellings due to flare-ups often being misdiagnosed as cancer or other diseases, which leads to unnecessary and potentially harmful procedures.
Sir Mike Penning
There have been limb amputations, and the damage that does to the muscle means it almost invariably turns into bone. Surgeons do not amputate a limb for the sake of it, and with the best will in the world, amputation is often more damaging and does not help the patient; if anything, it makes it worse.
Karin Smyth
I thank the right hon. Gentleman for his clarification about that, which adds to the trauma that people are living with.
A genetic test can confirm the diagnosis, and we expect to hear whether the Minister has made any assessment about including the test in the national genomic test directory for rare and inherited diseases. Given the commitment in the rare diseases action plan, it would be helpful if the Minister outlined what discussions he has had on new-born screening for FOP and the inclusion of digital education resources relating to FOP. As we have heard, there are only three knowledgeable clinicians in the UK. Access to information and guidance on FOP would make a huge difference for all those living with this condition.
Accepting that the Minister and I are the B team, and scientists would have been preferable, it is important that there is good care to help people with the condition who may be immobilised at a fairly young age. Care for FOP and other rare diseases is specialist and complex, and it reaches across the health and social care systems. I am sure I speak for him when I say that we are both very pleased to talk about the impact on the wider health service. We know that we are very short of care staff more generally, which is not helpful for people who need care or their families. Those living with this condition are vulnerable to some of the wider issues in the care service.
More generally, it would be helpful if the Government could outline more support in the workforce plan, including in social care. Without an increase in the number of care workers, those living with rare diseases such as FOP will struggle to get the care they need. That is why we think it should happen, and it would be helpful to hear what steps the Government are taking to support the care workforce for people living with this condition.
We have heard that research is the greatest hope for those living with this condition, and the right hon. Member for Hemel Hempstead has argued passionately, as have others, for the need to continue funding the STOPFOP trial. The amount of money raised by FOP Friends and the progress that has been made are an incredible achievement. We know that research into FOP will have benefits and implications for more common illnesses, such as osteoporosis, childhood brain cancer and heart disease.
Obviously, we are all pleased to hear that, after a very difficult and uncertain two years of frankly unnecessary negotiations—which have halted or delayed collaboration and research—we will now be involved in the Horizon programme, which will be crucial to making progress in this area. A key commitment in the rare diseases action plan is to improve the Be Part of Research platform to make it easier for people living with rare diseases to participate in research, should they choose to do so. Again, it would be helpful to hear from the Minister what the Government are doing to support those who wish to take part in the trial.
As we have heard, FOP can be devastating. The families want to live in good health and live their best life with their loved ones. I give my heartfelt commendation to those living with this condition and their families. I am pleased that people have come here today and I am sure that that visit to Downing Street was a really positive. The fact that we are debating this issue today is a testament to their hard work and commitment.
The Minister for Health and Secondary Care (Will Quince)
Let me start by thanking my right hon. Friend the Member for Hemel Hempstead (Sir Mike Penning) for securing this important debate on FOP and for his powerful and compelling contribution. As he eloquently and articulately set out, FOP is an incredibly rare and truly devastating condition. He is a champion for people living with it and for their families, and I thank him for that. It is impossible not to be moved when reading about this currently incurable condition and when seeing pictures such as those he sent me about it. I am sure I speak for the whole House when I say that hearing about Lexi Robins and her parents, Alex and David, greatly moved me. I can only imagine what they must be going through, and I send my heartfelt sympathies to them and their entire family.
I also wish to express my admiration for Chris and Helen Bedford-Gay, who established the charity FOP Friends, after their son, Oliver, was sadly diagnosed in 2009. I understand from my right hon. Friend that they have raised more than £700,000 since then to fund research into treatment and to support families impacted by FOP. I am sure that many, many families are incredibly grateful for all their efforts.
At the outset, let me confirm that I am happy to join my right hon. Friend in meeting the Science Minister on this issue. We already work hand in glove on matters of research, and the House would expect nothing less. It would be remiss of me not to also welcome the hon. Member for Bristol South (Karin Smyth) to her place and to congratulate her on her promotion on the Front Bench. I also thank the hon. Member for Blaydon (Liz Twist) and my friend the hon. Member for Strangford (Jim Shannon) for their constructive and powerful contributions to this afternoon’s debate. I will endeavour, with your permission, Mr Deputy Speaker, to give as full and comprehensive a response as possible, given that I have far longer than any Minister usually has to respond to a Backbench Business Committee debate.
Let me kick off with a question asked by the hon. Member for Blaydon about the national genomic test directory. I scribbled those words down at pace as she was speaking. I will check and write to her specifically to confirm this, but my understanding is that FOP is a form of skeletal dysplasia, which is in the national genomic test directory. I will confirm that in writing once I have checked with officials on my return to the Department.
I want to assure the House and, of course, all families affected by rare diseases and conditions—I note my right hon. Friend’s point about FOP being a condition, but “condition and disease” is a phrase that the Department and clinicians often use—that we certainly recognise and understand the challenges they face. These diseases and conditions have wide-ranging impacts, not just on sufferers’ physical health, but on their mental health and on their involvement in the community, as he set out. That is why it is crucial that those affected by this condition receive the best possible care, from swift diagnosis to treatment, to improve their quality of life as diseases and conditions, sadly, progress.
To do that, it is vital that the UK harnesses our research prowess. Today’s debate has largely focused on the power of research and how it is often the key to unlocking so much. Our universities, scientific institutions and healthcare system very much lead the world in this space—we often say that we are world leading in lots of areas, but research is certainly one area where we are. They have enormous potential to develop solutions to improve the lives of people living with rare conditions, including FOP. Let me be clear that the Government are committed to funding this research.
In July, the Medical Research Council and the National Institute for Health and Care Research announced £14 million of investment to launch the UK rare diseases research platform. That is bringing together expertise from across the UK to foster new and innovative treatments for rare diseases and conditions, and to accelerate work to improve diagnosis. What is more, the Government are committed to funding groundbreaking research through nearly £790 million of new investment, again through the National Institute for Health and Care Research’s biomedical research centres. There are 20 centres, all of which research rare conditions and bring together academics and clinicians. Their role is to translate scientific breakthroughs into potential new treatments, diagnostics and technologies.
Liz Twist
I thank the Minister for his comments about the UK rare disease funding. It is very welcome, and I am particularly pleased to see that some of those centres are in Newcastle, in the north-east. That is really important, as I will discuss in my Adjournment debate later. Will he talk specifically about research into this condition, which is what the families will want to hear?
Will Quince
The hon. Lady pre-empts my next sentence, but let me give way to my right hon. Friend before I continue.
Sir Mike Penning
I will await the next sentence with interest. I have been to Oxford and met many of the scientists who are carrying out the research, but bidding for this sort of funding is enormously complicated. It takes forever and a day to fill in the bids—a lot of time, and time is money for a scientific facility—and will not help with FOP because it does not fit into the categories that the Minister refers to. It is so rare that we have to bid for funding across Europe or with the Americans. Is there any way that we could simplify the process, so that researchers could know earlier whether they have a chance of getting the funding or if they are wasting their time?
Will Quince
I thank my right hon. Friend for his question. Given the complexity of the issue he raises, it might be helpful if I respond in greater depth at our meeting, where I will invite Professor Lucy Chappell, who heads up the NIHR, to explain that process. She is always looking at how we can improve routes to research and make it as easy as possible for researchers to come forward with fundable bids that the NIHR is then in a position to fund.
The hon. Member for Blaydon pre-empted my next sentence, which was going to be on FOP specifically. I am pleased to say that the Government are funding dedicated research into FOP. Since 2010, the Medical Research Council has funded three projects relevant to FOP. I will ensure that right hon. and hon. Members get further detail about exactly what the Government have funded.
In the last five years, the NIHR has supported seven studies specifically into FOP. As my right hon. Friend the Member for Hemel Hempstead said, the biomedical research centre in Oxford has supported the STOPFOP clinical trial that is exploring the safety and efficacy of using the new drug Saracatinib, to which the hon. Member for Strangford referred, to treat sufferers of FOP. Both the National Institute for Health and Care Research and the Medical Research Council welcome funding applications into any aspect of human health.
My right hon. Friend the Member for Hemel Hempstead rightly made a point about the challenges of designing trials for rare diseases. The efficacy and mechanism evaluation programme that is funded by the NIHR and the MRC may suit researchers who are interested in FOP, as it looks to attract studies with novel methodology designs that can deliver results efficiently and quickly.
My right hon. Friend and others rightly referred to Horizon Europe. I know that, ideally, he wanted the Minister of State for Science, Research and Innovation to respond to this debate, but I reiterate that I work incredibly closely with that Minister because I have responsibility for all research funded by the National Institute for Health and Care Research and through the Department. Moreover, the NHS is a vehicle for so much of the research that happens.
As my right hon. Friend pointed out, Horizon Europe is a valuable platform for researchers from across the continent to come together to tackle shared challenges, especially in areas of this nature where the number of patients affected, or certainly diagnosed, is very small. It has been an important source of funding for research into rare diseases and conditions, including the STOPFOP study. As my right hon. Friend alluded to, we have been negotiating the UK’s continued involvement in the programme. I am delighted to say that, such is the timeliness of this debate, the Prime Minister this morning announced the successful conclusion of those negotiations with a bespoke deal in our national interest, as the Secretary of State for Science, Innovation and Technology set out in a statement to the Commons earlier today.
Let me respond to my right hon. Friend’s specific point about how quickly research can be stood up. As of today, UK researchers can apply for grants and bid to take part in projects under the Horizon Europe programme, and they can do so with certainty that the UK will be participating as a fully associated member for the remaining life of the programme to 2027.
Sir Mike Penning
This is a learning process for all of us, and it is not just about FOP. As I understand it, Horizon asks for bids on certain aspects. A bidder can only bid if they fit into those criteria and then they have to wait for up to two years to run the project. The FOP project had to stop because of covid. To start all over again would be very difficult. I wonder whether the Minister will join me in that meeting to see whether we can slot into the process, rather than start all over again.
Will Quince
I thank my right hon. Friend for his intervention. Again, he has pre-empted what I was about to say next. I listened intently to his question to the Secretary of State during the statement earlier today, where he secured a meeting with the Minister of State for Science, Research and Innovation. Of course, I would be very happy to join him at that meeting. I share with him the view that if there is an opportunity for that research to be continued, we certainly do not want to see it start from scratch. At the moment, my understanding is that that research relates only to adults and my right hon. Friend, understandably and rightly, would like it to be extended to children.
Let me turn to the steps that the Government are taking to tackle rare diseases and conditions more broadly. In 2021, we published the UK rare diseases framework, which embodies our commitment to building a brighter future for people living with rare diseases and conditions. The framework identified four key priority areas: helping patients get a faster diagnosis; increasing awareness of rare diseases among healthcare professionals, which is something that my right hon. Friend is particularly passionate about; delivering more co-ordinated care; and, alongside that, improving access to specialist care, treatment and drugs. Since then, as was alluded to by the hon. Member for Inverclyde (Ronnie Cowan), all four nations of the United Kingdom have published rare disease action plans to suit their healthcare systems, and we very much work—and have to work—in collaboration on that.
In England, we published our second rare disease action plan on 28 February this year, which also marks International Rare Diseases Day. In that, we set out 13 new actions to drive improvements across the health system and we are committed to publishing action plans throughout the lifetime of the framework.
I touched on awareness of FOP and rare conditions and diseases more broadly, because my right hon. Friend rightly highlighted how a lack of awareness of FOP in the medical community can lead to under-diagnosis, missed diagnosis and, sadly, unnecessary examinations, which can exacerbate symptoms. That is why improving healthcare professionals’ awareness of rare diseases and conditions is central to the rare diseases framework. I am pleased to inform the House that we are making good progress in that regard. NHS England has developed GeNotes, which is an online resource that puts information about genetic diseases and conditions at the fingertips of healthcare professionals. I am pleased to tell the House that resources dedicated to FOP will be added to GeNotes. That will help more clinicians to diagnose this awful condition, and sufferers will receive the treatment that they need more quickly.
My right hon. Friend has raised newborn screening with me privately. The hon. Member for Bristol South (Karin Smyth) also raised newborn screening for FOP. They are both right that antenatal and newborn screening can be a vital tool in the early diagnosis of rare diseases. National screening programmes are implemented on the advice of the United Kingdom National Screening Committee, which makes independent evidence-based recommendations to Ministers in all four nations. While I understand that there are currently no plans for a national newborn screening programme specifically for FOP, I highlight that proposals for new conditions can be submitted to the National Screening Committee’s annual call for new topics.
Liz Twist
On newborn screening, is the Minister aware that there is concern among the rare disease community about the limits of our newborn screening process? This is something that we are speaking about at the moment. We think that there are options for it to be expanded in a positive way.
Will Quince
I have heard that from other charities, groups and organisations representing those with rare diseases and conditions. It is right that we respect the independence of the National Screening Committee, which puts forward to Ministers evidence-based decisions, but it is nevertheless important that we listen to organisations that are making valid cases. I am also concerned about the length of time that the National Screening Committee can take to make decisions, review evidence and present recommendations to Ministers. In our meeting, I will happily discuss that issue in greater depth and at greater length.
Let me once again thank my right hon. Friend the Member for Hemel Hempstead for securing today’s hugely important debate, and in particular for securing it on the Floor of the House. I express my heartfelt support for the entire FOP community: those living with the disease, their carers, their families, the clinicians and the charity FOP Friends, which works tirelessly to improve the lives of people affected by this devastating condition. I reiterate my thanks to all Members for shining a light on the condition this afternoon. I very much look forward to our meeting and to discussing this further. I genuinely believe that together we will continue to strive for progress and awareness, and support those living with FOP.
Sir Mike Penning
What an excellent debate we have had. I apologise if I was in any way rude to the two Front Benchers when I said that I would have preferred the Science Minister. I will have the Science Minister later, so that is perfectly okay. I am very grateful to today’s Minister, who set out some things that we did not know.
On screening, if we know about this early, we will save the NHS money. I know that an independent body looks at rare diseases and conditions, but for this particular life-changing and life-shortening condition, the aspirations and dreams of parents are changed dramatically the earlier they know, because the earlier they know, the earlier we can get those at FOP Friends who have been through it themselves helping them. The more we can screen, the more we will find—the one in 1 million figure shows that we do not know about enough people, because it does not work that way—and the more chance we will have of getting consultants who specialise in this area, rather than the three that we have currently. The more active we are in this area, the more scientists will want to come to this country and work at Oxford with the team there, and with other teams. That means that there will be a future for the families who are so badly affected.
I am enormously grateful to the House and to the Backbench Business Committee for granting a debate on a subject that most people freely admit they knew absolutely nothing about until bits of paper came across from my office. In particular, I thank Jon Mole from my office, who has contacted nearly everybody’s office and said, “What more do you need?”, including those on the Front Bench, because it is really important that we have that knowledge. I remember saying to him the other morning, “Have you given that to so-and-so?”, and he said, “Yes, it’s already gone.” For instance, with the letter to the Prime Minister this morning, which I know the Minister received, I was told five minutes before coming into the Chamber that he had it.
There was a lovely moment outside No. 10 with the families and the affected children and young people. Little Lexi handing the letter in at the door of No. 10 was a very moving moment. Let us hope that with the ministerial meetings we are going to have and with the great news about having partnerships with Europe, rather than being run by Europe, which is really important, particularly with Horizon—[Interruption.] Members knew I would get that in. Let us hope that with those things and with the nations of this country and this great Parliament coming together and saying, “We need to do something about this,” we can do it. FOP affects so few people, but the scientific research could affect a lot of families and help them in the future.
Question put and agreed to.
Resolved,
That this House has considered funding for the prevention of fibrodysplasia ossificans progressiva.