Monday 29 April 2013

The patient perspective: Oli Rayner blogs about our new research strategy

The CF Trust’s new research strategy is ambitious and exciting. I want to talk about three aspects which I think are particularly important: the CF community’s therapeutic portfolio, adherence and clinical trials.

Kalydeco is a small molecule with big implications. This little blue pill is changing the lives of the 4% of CF patients with the G551D mutation. Trials to see if Kalydeco works for other similar mutations are underway. Phase 2 data released by Vertex on April 18th, in a press release, has bolstered hopes that Kalydeco might work in combination with various other small molecules to treat a much broader range of CF patients including people like me with the most common delta F508 mutation.

This is amazing and really important but there’s a long way to go from Kalydeco to a Kalydeco-like therapy for all 1,800 mutations and it is important to remember that, even for G551Ds, Kalydeco is not a cure. People on Kalydeco still have CF.

For young children whose lungs are not yet damaged by infection, drugs like Kalydeco could be very close to a cure. For older ones whose lungs have been damaged, Kalydeco might freeze the disease but it won’t reverse damage already done. So even if there was a Kalydeco-like treatment for all mutations, symptom-management tools will still be needed. In fact, they may well be needed more than ever because people with CF will be living longer. 

CF is a complex disease and it seems inevitable that complex combinations of small molecules and other therapies will be needed even within a common mutation. I think it’s vital for the CF community to nurture some alternative viewpoints and facilitate some alternative science. I think we need to hedge our bets.

Given the lethal mechanisms of CF, there is clearly a point where addressing the symptoms very effectively could be thought of as modifying the disease or changing a patient's life prospects. If a treatment knocks back a chronic infection like Pseudomonas so well that it materially slows down the lethal cycle of infection, inflammation and scarring, it could have a massive impact on quality of life and life expectancy. Materially reducing the frequency of exacerbations will extend life as each one leaves its mark. It is very important that we continue to develop these kinds of therapies.

The CF Trust has always been committed to research and I think this commitment is more important now than ever before. Of course, the Trust established and funded the Gene Therapy Consortium and this is pioneering new techniques that may turn out to be just as important as small molecules or more important. This would not have been possible without the Trust’s funding and sheer determination. I hope the Trust can continue to support this programme as part of a broader portfolio.

I think it’s essential that the CF Trust works in conjunction with the CF Foundation and others to achieve a diversified portfolio of therapeutic options. It is very important to go after more effective symptom-management tools (particularly those which can reduce inflammation or neutralise Pseudomonas and other lethal bugs) and to pursue alternative approaches to rescuing chloride channel function. I hope everyone can work together and I hope it will deliver a more balanced line of attack.

The CF Trust’s research strategy recognises this and I believe it will make a big difference.

One of the most challenging aspects of having CF, for me, is the heavy burden of daily treatment. CF adherence is not just popping pills - it is real work and it is difficult to fit everything into the day. Some of the treatments are unpleasant - they require a lot of effort and willpower. It becomes much harder to get all your treatments done, and it takes longer, when you’re not feeling so well which is, of course, exactly when you need them most. It is easy to feel overwhelmed with treatments. It’s hard to find a balance. It is hard to create reliable windows for work, family and friends; and for all the other things you have to do to get by in life. 

So we need to find ways to reduce the burden of treatment by finding faster, more convenient, more portable options, perhaps eliminating treatments that aren’t actually helping, or helping people find practical solutions so they can fit things into their life more easily. Something which saves an hour a day and can be done anywhere is going to have a dramatic impact on quality of life and, I think, adherence. Clearly there is a link between poor adherence and hospitalisation. We do too much fire-fighting and we need to focus more on prevention. We need to recognise the value of prevention.

It may be simplifying treatments; developing a pill or inhaler to replace a nebuliser; perhaps bring in some sports psychology techniques; or a web-based platform or a smartphone app that helps to manage and motivate or allows people to track their progress or even just talk to someone who’s in the same situation (because don’t forget we can’t meet up due to risk of cross-infection). This kind of thing could help people live a fuller life, stay healthier, reduce exacerbations and keep them out of hospital. This is worth doing and I think it’s great that the Trust has highlighted this area and reducing the overall burden of treatment as key research priorities.

In the UK, about 10% of CF patients have participated in a clinical trial. We need to do more. We make it far too difficult for sponsors to do trials. We need to make it easier because we’re all losing out.

Studies show that simply taking part in a trial can improve a patient’s health and that is irrespective of whether they receive the active drug or placebo; and irrespective of whether the trial has a positive or a negative result. It is not just about being an altruistic guinea pig, it’s about direct benefits (for patients, clinicians and hospitals) and a positive culture that forces everyone to raise their game and not to settle.

This means making sure that, when there is a new drug, our patients have the opportunity to take part in clinical trials but it also means doing more trials to make sure we are using the tools we already have as effectively as we can.

Clinical trials, funded by the CF Trust, like the TOPIC study on once vs three times a day aminoglycosides, have resulted in significant improvements in care. In some cases they have allowed treatments to be simplified and ineffective ones to be stopped. These kinds of trials are really important and we need to do more.

It also makes sense to get patients and parents involved in clinical research at the design stage. After all, clinicians only see patients and collect data when the patient comes to the clinic or in hospital. It is the patients and their families who live with CF day-in/day-out. We are the only ones with a 360 degree view. Why can’t we use this experience, and data collected at home, systematically to inform clinical trials and make sure we’re asking the right questions and working towards the outcomes that are most relevant to patients in their daily lives? Internet technology has made this easy to do and, if our aim is to improve real world outcomes, I think we have no choice but to embrace it. That’s why I am really happy about the CF Trust’s commitment today to facilitate patient involvement in this more strategic aspect of clinical trials.   

The CF Trust’s research strategy provides a scientific map but, what I think is most important, is the clear signal of the Trust’s intent to collaborate with new partners, in new ways and to make resources available to help people convert their ideas into new therapeutic tools.

Ed Owen live from our research and scientific conference

Our science conference is underway

It's an exciting moment for the Trust as we seek to exploit the extraordinary developments in cystic fibrosis research for the benefit of people with the condition in the UK.

The introduction of Kalydeco (ivacaftor) for people with the G551D mutation shows that the development of treatments to tackle the basic genetic defect is possible.

And there are further potential developments to improve the management of symptoms of cystic fibrosis that has seen life expectancy increase from less than 10 years five decades ago to more than 40 today.

The conference has heard from Prof Eric Alton about the work of the Gene Therapy Consortium. 

Eric provided the latest news from the Phase 2b trial and the longer term Wave 2 work.

We have heard from David Lomas about work that is going on in other disease areas that might be useful in cystic fibrosis research too.

For many of those joining the conference online via the CF Unite website, a lot of what is said today will be difficult to follow in detail - unless you are a research scientist!

But the engagement and involvement of people with cystic fibrosis and their families is vital over the next few years as we develop our research plans to bring real clinical impact.

So keep with us - and let us have your questions.

Ed Owen, Chief Executive, Cystic Fibrosis Trust

Friday 26 April 2013

Sophie's Marathon story, are you inspired to run the VLM in 2014?

Sophie Ormsby spoke about the emotion of running the London Marathon for her sister Emma, who has cystic fibrosis and raised over £7,000!
Sophie with sister Emma

At 10:20am yesterday I set out on my massive challenge of running the London Marathon.  I set off to run London with Boston in my heart, nerves in my tummy and excitement in my head.  I also set off knowing that I had raised a shade under £6000 with the help of really generous donations from family and friends.  If anything was going to get me round then that was! 

It dawned a beautiful, if not slightly too warm for comfort, day - a perfect day for a marathon - the telly coverage said.   Any nerves I had shattered as I was surrounded by literally thousands of people all in the same boat as me.  

I had had two pieces of advice from those who had run it before.  The first was not to go out too fast as I would regret it for the second half of the race, so I was very disciplined and stuck to my times, at this point hoping to go for 4 ½ hours which I had been training towards. The support was amazing, even so early on and it only got better!  Still looking ok for my time I saw my incredible support team (aka Team S.O.) at mile 9 - Mummy, David, George, George's mother and sister and 6 friends! It was just the boost I needed to spur me on.

I had another massive boost seeing Team S.O at mile 15 and then my sister Emma up on Andy's shoulders fresh from a wedding in Edinburgh at miles 16 and 17. Stemming the tears with strict instructions from Emma to enjoy it, on I plodded, and it was a real plod now.  My calf hurt with every step and I just thought £6000, £6000, £6000, think of Emma, think of Emma, think of Emma and on I went.

After mile 20 it got hard. 
On I went, random people shouting my name left right and centre and the only acknowledgement I felt able to give a small lift of my thumb, they knew I meant thank you.  Embankment station and the CF Trust team came and went and then I turned the corner by Big Ben and there were Emma and Andy again shouting me on with all their lungs - the tears then came and I knew I could go that last kilometre to the finish.

Coming up to the finish was just amazing.  This was when I took the second piece of advice - don't look down on the last 2 miles; look up, take it in, enjoy it.  The look on my face said it all, sheer relief, agony and joy all at once if that's possible! 

Those last 200 metres are a blur but amidst masses of cheering, I did it...I had run the London Marathon.  And I had run the whole way.  4 hours 47 minutes of mostly agony, 17 mins longer than I had hoped but still the most amazing feeling I have ever felt. Not even 3 months in the Arctic could top that feeling when I saw Emma and hugged her and knew that I had just done something purely for her.  It really was the best moment ever.

The calf will get better.  I will be able to walk without a hobble in a few days and I could take the day off work the day after to recover!  People with CF never get a day off.  Emma, my darling one-in-a-million amazing sister never has a day off. So, if my £7,900 can help bring about a cure through gene therapy, even in the tiniest way, it will have been more than worth the agony. It means the world to me that I can use my healthy body that I am so lucky to have, to help Emma and so many others with CF.

Sophie xx

If you would like to take part in the 2014 Virgin London Marathon with Team CF, please apply for a ballot place. Entries open on Monday 29 April so set your reminder now to visit

Wednesday 24 April 2013

Transforming research into cystic fibrosis, an exciting strategy

Janet talks about exciting plans for research in cystic fibrosis.

On April 29, the Cystic Fibrosis Trust will publish its ambitious five year strategy for research. I would like all those with a stake in cystic fibrosis to join in with our conference via live streaming by visiting:

This launch is a big moment for the charity and reflects the exciting opportunities that exist in the area of cystic fibrosis and also in the wider research environment. The Cystic Fibrosis Trust has a strong and proud tradition of investment in research to advance treatment opportunities for people with cystic fibrosis. I hope this strategy will position the Trust to be able to take full advantage of these exciting times and to maximise the impact on the health and well-being of all people with cystic fibrosis and their families.

The strategy has come out of extensive and widespread consultation with stakeholders in the UK and overseas, we are grateful to everyone for their generous time and input. The strategy will change the way we manage research investments. In particular, we will be more outward looking and seek to identify synergies and work with other funding agencies to increase the research awareness (whether government agencies such as NIHR and the research councils, such Medical Research Council, other research biomedical charities and industry).

Our aim will be to manage a research portfolio that delivers solutions for all people with cystic fibrosis, so assisting in the delivery of the novel transformational treatments in the clinic whether they be small molecules, gene therapy or seizing new opportunities as they arise. But we also need to ensure we support research that slows the progress of the condition. Key features for the new strategy are to increase the quality and capacity for clinical trials, to recruit the brightest and best to cystic fibrosis research and to increase the voice of people with cystic fibrosis in the research agenda.

These are exciting times in an era of unprecedented gains in treatment of the basic genetic defect that causes cystic fibrosis, we must forge a path forward in this new era and be at centre of driving research. Cystic fibrosis a fight we must win!

Dr Janet Allen is Director of Research at the Cystic Fibrosis Trust