Fibrodysplasia Ossificans Progressiva

Maria Caulfield Excerpts

Monday 6th December 2021 Westminster Hall

[The Parliamentary Under-Secretary of State for Health and Social Care (Maria Caulfield)]

I thank my hon. Friend the Member for Carshalton and Wallington (Elliot Colburn) for leading us in this debate. It is incredible that a condition that affects fewer than 100 people across the UK has generated so much support, and that is testament to everyone involved. I particularly pay tribute to my right hon. Friend the Member for Hemel Hempstead (Sir Mike Penning) for always putting his weight behind the campaign, and for sharing the experience of his constituent, Lexi, and the impact that this condition has on her life and that of her family. I also thank the campaigners, and their FOP friends, for their important work in this space, as well as all those across the United Kingdom who are affected. We heard the story of Oliver from the hon. Member for Wythenshawe and Sale East (Mike Kane), and it is through such stories that we learn about the full impact of this disease. This is not just a condition that young children have to live with, because there are ordinary day-to-day things that they can no longer do, and that may worsen their condition or shorten their life expectancy.

We heard from the hon. Member for North Antrim (Ian Paisley) about Zoe and Lucy—the two people we know of in Northern Ireland who have this condition. If nothing else, this debate has highlighted and raised awareness of the condition, and there may be parents out there whose children have similar symptoms and who might now think about pushing for investigations to see whether they are affected. It is important that rare diseases such as FOP get the attention and resources that other more common conditions routinely receive. Although rare diseases, by their very nature, are rare, today we have heard that collectively one in 17 people will be affected by a rare disease at some point in their lifetime. That amounts to 3.5 million people in the UK.

The Government have recognised the issues and challenges faced by people with rare diseases such as FOP. For too long such diseases have been the Cinderella of conditions, and resources have traditionally been targeted to those most affected by other conditions. This Government are the first to change that and to raise the profile of rare diseases, in terms not just of awareness, but also of resources.

As we have heard, FOP is a rare genetic condition when abnormal bone development occurs where bone should not normally grow. It has the most debilitating effects, whether reducing mobility or even leading to respiratory or heart failure. The tragic situation is that although some medication can treat some of the symptoms, there is no effective treatment for the disease, and certainly no cure. We have heard about the effect that the condition has on life expectancy for some of the youngest people in our society. We are not 100% sure of the causes of FOP, because although a genetic mutation happens, we do not know whether it is a hereditary condition. In some cases it is hereditary, but in many it happens spontaneously. There is a huge amount of research that needs to be done, not just on curative treatment, but on understanding the cause. That is what the petitioners have called for today—research into that area. It is frustrating with rare diseases that, in any clinical research, the more people who are affected, the quicker the results are.

[Sir Mike Penning]

I think it is important that I correct the Minister’s point. There is no evidence at all that this is hereditary. The gene is affected at conception. That has been researched, and we know that gene testing can happen. For the record, can we please make clear that this is not a hereditary condition?

--- Later in debate ---

[Maria Caulfield]

I was pretty clear that it happens spontaneously in the cases that we know of. It is a genetic condition, but not necessarily hereditary.

Finding quick answers to research questions requires a large number of people to be involved. The frustrating thing with rare diseases is that they affect so few people that, even if there was a wealth of research, the low numbers mean that research results are often frustratingly slow. That is no one’s fault; it is the nature of rare diseases. That is why the Government have brought in the rare diseases framework. We want to pool resources to bring research into many rare diseases forward.

The Government are committed to increasing spending on research by 2026-27 by £22 billion, moving further on our target of having 2.4% of our GDP in research and development by 2027. We recognise that research is the answer to most of the questions that have been asked today, and we are significantly increasing funding for it. Members of all parties raised the UK rare diseases framework, which is central to our ambition and was launched in January, setting, for the first time ever, four main ambitions for rare diseases.

The first ambition is to get a faster diagnosis. We have heard how important that is for FOP. The longer children have symptoms that are not diagnosed as FOP, the more likely they are to come to harm. Playing in the playground or even coming into contact with people who have colds or the flu can make their condition significantly worse. Getting a faster diagnosis is crucial.

The second ambition to increase awareness among healthcare professionals is crucial. Even something as innocent as doing a biopsy to try and find out the cause can have negative effects. As a nurse of 25 years, I have never come across a case of FOP. I am sure there are many GPs and hospital doctors who will be in the same position. Increasing awareness is crucial.

The third ambition is the better co-ordination of care. There should be a treatment pathway that should be followed by anyone affected by this condition or any rare disease. For me, what is most crucial and will be of the most benefit to parents and those affected by the disease is our fourth ambition: improving access to specialist care, treatment and drugs. We have heard today that there are only three specialists dealing with this condition. It is important to support those who specialise in this. They are the ones who will be asking the valid research questions and who will be able to undertake the research. For me, that ambition is crucial.

Alongside industry, medical research charities and specialists, the Government are funding research into rare conditions such as FOP via the National Institute for Health Research and UK Research and Innovation. The Department of Health and Social Care is investing over £1 billion every year to fund and enable research. I am concerned to hear that campaigners and FOP Friends are not finding that the specialist centres can access that funding. In the past five years, the NIHR has funded one study into FOP at its biomedical research centre, which has specifically looked at the potential for repurposing saracatinib, an ovarian cancer drug, to see whether it will work with this condition.

Seven other studies relevant to FOP are also being funded. If those working in this field are not able to access funding for their research projects, the Clinical Research Network offers a flexible package of free support to help plan, place and successfully deliver clinical research in any field of rare diseases. I am happy to meet campaigners and specialists if they are not getting access to that support, because it is available to them.

[Sir Mike Penning]

The Minister has taken the words right out of my mouth. Will she and specialist civil servants in her Department meet the campaigners? Not a huge group—just a few people to come together to work out how they can get access and make a successful bid so that the children can get the help that they need?

[Maria Caulfield]

Absolutely. I would be very happy to do that. Part of this will probably be the co-ordination of what funding, help and support there is for researchers, and then bringing the researchers together.

I reassure those who signed the petition that the NIHR does not ringfence funds for research. The fund is open to everyone, whether they have one of the most common diseases in the country or one of the rarest. The £1 billion research fund is available to all, and funding applications are available for any aspect of human health. When applications come forward, they are subject to peer review, so research colleagues look at it and judge it, with awards being made on the basis of clinical need—clearly, today we have heard of a clinical need that exists—the value to healthcare services, value for money and scientific quality, so there is no barrier to people applying for the funding.

Since 2010, the Medical Research Council has contributed funding to three projects underpinning relevance to FOP and underlying conditions as well—a total of £6.6 million. Outside those studies, UKRI and NIHR have also looked at supporting musculoskeletal health, which, although not directly FOP-specific, will have relevance to that condition.

[Andrew Selous]

I just want to take the Minister back to a point she made a moment ago about the trials for new drugs being limited to a very small number of people because FOP is a rare disease. I wonder what the solution to that is. Do we try to get people with FOP all the way around the world to participate in a trial? I am not sure how many people would be needed for a trial for it to be validated by the Minister’s Department. There were 107 in the trial that I mentioned, which I presume is too small. I wonder how we overcome that when in each individual country there are only a very small number of people to do the trials on.

[Maria Caulfield]

Absolutely. Just to be clear, it is not the Government who would validate the trials; it would be the scientific community. If it is drug-related, the Medicines and Healthcare products Regulatory Agency would go on to change licences if it found a treatment that was applicable to FOP. In many conditions with such low numbers, often there are global studies, and the funding would not be restricted to a UK-based study. If it was part of a global study, I am sure that that would be acceptable. That is why it would be helpful to meet so that the support and mentorship available to researchers who are thinking of applying for funding could bottom out some of those issues.

I want to reassure colleagues who raised concerns that rare diseases are being pushed up the agenda. The rare diseases framework that was published in January is the first of its kind, and should reassure parents and children with FOP that this is an absolute priority. For too long, rare diseases, because numbers are low, have not had the significance, priority and attention that more common diseases with lots of campaigners and patients have had. The framework will push this to the top of the agenda.

The second reassurance I can give is that funding is available; there is £1 billion per year for clinical research across the board. Just because it is a rare disease does not exclude FOP from these funds. From a practical point of view, it does make research harder, as my hon. Friend the Member for South West Bedfordshire (Andrew Selous) highlighted. However, this does not mean that FOP researchers cannot apply for these funds; there are other criteria that are applied to low-volume scenarios.

Thirdly, I want to reassure Members that clinical research is happening. There are one or two studies that have taken off in this area; often that is the catalyst that needs to happen. I am hearing from colleagues across the House, who have constituents who are affected, that there is a desire to do more research. Very often, this desire is what is needed more than anything to find the researchers who want to do the research and have research questions—whether those are about diagnosis, treatment, or, ultimately, a cure. The funding is there to help support that, and there is practical help and support to bring those studies to fruition. Let me reassure colleagues that, as the Minister, I believe that research is the answer to many of the questions that have been asked today. I am very aware of how distressing this condition is, and the impact that it has on both the quantity and quality of a young person’s life. The Government are committed to ensuring that all rare diseases get better access to the resources that are there. With particular regard to FOP, I am sure that we can work with colleagues across the House to deliver answers to some of the questions they have asked today.