Making Great Strides for the Cystic Fibrosis Trust

David Turner writes about the the Cystic Fibrosis Trust's Great Strides 65 challenge.

Dawn broke over the North Downs on Saturday 18th May to the sound and smell of bacon being fried on a camping cooker to feed the intrepid walkers participating in the second running of the “Great Strides 65” – a 65km (40 mile) supported team walk from Newlands Corner, just outside Guildford, to Shoreham-by-Sea.

Eight teams took part in the 2013 event, with the aim of bettering the £20,000 plus Gift Aid raised on the inaugural running in 2012. Remarkably the Dorset Dawdlers and Somerset Strollers came back for more, having successfully completed the previous year’s event: the Dawdlers’ Mike Rutter was determined to finish in better style than he had 12 months ago – when he walked the last five miles wrapped in a space blanket.

The Dawdlers were joined by teams from Surrey, London and as far afield as the West Midlands, Bristol, Somerset and northern Cambridgeshire. All of the teams had some connection with CF, whether through family friends or as parents of children or adults with the disease. Walkers ranged in age between their late-20s and 70 and included siblings, parents, uncles, aunts and grandparents of those with CF, and even a vicar who had once baptised a girl with cystic fibrosis! The remarkable Sue Ward from March was walking in memory of her son, motivated by a burning determination to help fund the research which will improve the outcome for current and future generations of patients

Ready for the “off” – Newlands Corner at 7am

After setting off at 7am, and an initial leg which involved a couple of gentle drops and climbs as the walkers moved away from the North Downs, the teams settled onto the Downs Link – a long distance path linking the North and South Downs which largely follows the route of the disused Cranleigh and Steyning railway lines. There were pre-arranged checkpoints every five to seven miles for the teams to meet up with their support crews so that they could refill their camelbacks, top up on Mars bars and bananas and change their socks and T-shirts. Despite earlier forecasts of incessant and heavy rain, weather conditions on the day were kind: dry, reasonably cool and no wind.

The teams made good progress, with the leaders reaching the third checkpoint at Slinfold (about 17½  miles into the route) at about midday. However, by the time that the teams reached Southwater (just five miles further on), many were beginning to suffer from sore feet, and the paramedics assigned to the event were earning their money as they performed a series of essential running repairs to keep people going. One walker’s feet were so badly blistered by this stage that she completed the walk wearing flip-flops!

For many, the final checkpoint at Upper Beeding was a welcome respite: conveniently located in a pub, participants were able to replenish depleted carbohydrate reserves with a pint of Sussex or a plateful of home-cooked chips before embarking on the final five-mile slog to the finish. Unfortunately, half the teams bypassed the pub (through inadvertence not design) and so denied themselves the simple pleasures on offer.

The posse was led across the finish line by the SW15 Ramblers at 7.30pm. The other teams followed, with the last team hobbling over the finish line at 9.50pm after nearly 15 hours of walking. Some of the walkers had pushed themselves to the point of exhaustion and beyond, and there were some spectacular blisters on display well before the end of the walk. The extraordinary determination of all of the walkers was both inspiring and humbling, and has helped the Trust raise a huge sum of money: to date almost £30,000 has been pledged. With gift aid, the total could exceed £34,000. We owe a huge “thank you” to all of the walkers and their support crews; to Katie Burr of the CF Trust who has organised the event for the last two years and who leaves the Trust shortly to go travelling (perhaps she will be back in time to “walk the walk” in next year’s iteration) and to the volunteers who helped the event to run so smoothly (most of all Mel Urwin, another walker from last year, who volunteered to help for a few hours but ended up staying the whole day!).

The date for next year’s “Great Strides 65” will be announced shortly. If you fancy doing something a bit different and surprising your family, friends and even yourself, then give it a go!!

The Mail Publisher Solutions team, and paramedics, at the finish

Dare to Hope - Tim Wotton's views on the Research Strategy launched this week

Dare to Hope
Hope of a cure is crucial for anyone suffering with cystic fibrosis (CF). My hopes have been raised and dashed in equal measure over the years. But is the outlook at last changing?

The UK Cystic Fibrosis Trust is at the heart of CF research into finding a cure and is holding a Research Strategy Conference on 29 April in London. This conference is integral to the way care will be improved over the next decade. More can and needs to be done by the Pharmaceuticals to bring a cure one step closer for the cystic fibrosis community…

From my perspective, having just turned 42, I’m keeping just above the median age of life expectancy for CF sufferers in the UK which is currently set at 41. Based on existing UK records, each week five babies are born with CF, and two people die. More than half of the CF population will live past 41, and improved care and treatments mean that a baby born today is expected to live even longer.

The ‘c’ word of ‘cure’ is of paramount importance to all of us and our loved ones. This word has been bandied about in many different ways by all sorts of people from scientists to the media for more than half my life.

It was way back in August 1989 that scientists from the U.S. and Canada triumphantly announced the discovery of the gene associated with CF. It was the early days of gene hunting, and the CF gene was a big prize. At the time, they predicted that a genetic test for CF was just around the corner. But they also thought a drug to treat the disease was in reach.

24 years and over 8500 days later a CF cure is still proving elusive. Throughout this extensive period of hope, I’ve experienced many false dawns and had to rationalise the sensationalism of many press reports. I’ve also have to manage the delight of my family and friends who tell me they’ve just heard that “a cure for CF has just been discovered!”

From 1997 I endured a fallow decade of no new drugs that could improve both my body and mind. Based on the premise that if you don’t ask, you don’t get in this life; I must have sounded like a broken record with my doctor during every appointment, “Anything new coming soon?”

Often my doctor would name a couple of drugs that I’d never heard of and tell me that we needed to ‘save them for a rainy day’. Well England has had its fair share of rain in this period, but still I had no joy. I did ask but I didn’t get.

Strangely, the years have taught me about patience. Patience is waiting. Patience is keeping going when the going is torturous and slow. Waiting hurts. But not knowing if a cure will ever come my way can sometimes be even more painful.

I know a few CFers who have withstood lung transplants and are doing pretty well but very sadly I know some that didn’t survive after receiving their new organs. I know and see others around the hospital, heavily dependent on oxygen, who are desperately holding out for the right donated organs. I can only imagine that that must require the most amazing amount of patience.

There are now a handful of successful drugs making their way onto the market. Like buses, you have to wait an age for one to turn up and then suddenly a couple turn up all at once.

A new generation of transformational drugs are coming. I have luckily lived long enough to see a time where drugs for the first time are available that treat the root cause of CF.

‘TOBI Podhaler’ by Novartis, consisting of a dry powder formulation of Tobramycin for oral inhalation via a handy device is one such medication. I’ve been on this for a few months and it’s improved my lung function by over 5 per cent.

Also there are two further dry powder inhalations - ‘Colobreathe’ from Forest Laboratories and ‘Bronchitol’ (mannitol) by Pharmaxis. Lastly there is an oral medication called ‘Kalydeco’ from Vertex Pharmaceuticals.

The drug that is receiving a lot of press is Kalydeco. It took Vertex a while to find a drug that would help restore the function of the protein the CF gene makes. One of those chemicals ultimately became a successful drug, but it had to be modified so patients could take it by mouth, and so it would last the right length of time in a patient's body. Overall the success of Kalydeco has been more than two decades in the making.

Kalydeco only treats patients with CF who have at least one copy of the G551D mutation. There are around four per cent in England - about 350 patients - who are benefiting from this medicine. While not quite a cure, the drug is extremely effective for those patients who have that mutation.

It has opened up a new era of genotype specific medicines that are the closest thing to a cure yet for cystic fibrosis. It comes in the form of two blue tablets, which control the symptoms in the lungs and for some of the digestive system too. After 42 years battling with CF, taking 40 tablets a day and many other treatments, I can’t imagine having only two little pills to take a day.

I don’t have the G551D mutation. I have the most common type of CF mutation, F508Del, which 90 per cent of people with CF carry, but Kalydeco could still help me in the long run. There are further trials using Kalydeco in combination with a substance called VX-809. The first results from these trials have shown a potentially positive impact on the more common F508del mutation.

However, this is not an actual cure as the damaged CF gene still exists. The only way to fix that would be gene therapy, where a healthy form of the gene would supplant the damaged one. Although it seems simple in theory, in practice, gene therapy has been incredibly difficult to accomplish and clinical trials in the UK and US are ongoing. When perfected hopefully inside the next decade (but I don’t want to get my hopes up), the effect will be close to a cure for CF children and it will be very helpful for older adults depending on their state of health.

There is and always has been a lot of fanfare about curing CF, but this new generation of drugs offer an alternative ‘c word’ and that is ‘control’ - controlling CF at the basic level, and that offers hope while we wait for gene therapy. We are at last beginning to win a few battles while we hold out to win the whole war... but there’s still more waiting and patience required.

More can and needs to be done by pharmaceuticals to maintain the momentum on treating CF. Scientists need to have an ‘ABC mindset’ to CF - Always Be Curing!

Once a drug is available it would help to keep it at a realistic funding price so that it’s actually benefiting those that need it. There’s nothing worse for a person with a chronic health condition then knowing of the existence of a game-changing drug, only for funding red tape to delay or eliminate it ever being taken. People talk about dangling a carrot, but this is more like suspending a bar of gold above someone’s head and then taking it away.

There’s a golden opportunity for drug companies and R&D staff to leave a lasting legacy by making a tangible difference to the quality of life and longevity of CF sufferers, so that in my lifetime the average age for a CF life is doubled.

It would also have a massive impact on my life, hopefully prolonging it so that I can enjoy a better quality of life with my wife Katie and son Felix.

I’m told that time is a great healer. Up to now that hasn’t been the case. I’m hoping that I can dare to hope for a brighter future and that time will still be on my side...

Visit the Cystic Fibrosis Trust's website to read the strategy.
Yours.


Tim

Tim Wotton
Read more of my CF blog ‘Postcards from Earth’

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.

THERAPEUTIC PORTFOLIO
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.

ADHERENCE
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.

CLINICAL TRIALS
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
Ed Owen, Chief Executive, Cystic Fibrosis Trust

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 www.virginlondonmarathon.com

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: http://www.cfunite.org

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

Berniece Phillips has cystic fibrosis and gives an insight into what cystic fibrosis means to her

Berniece Phillips has cystic fibrosis and is one of the faces of Cystic Fibrosis Trust rebrand

My name is Berniece Phillips, I'm 27 years old, living in Wirral. I was diagnosed with CF at the age of three. My whole life has consisted of a cocktail of medication from tablets, physio treatments, hospital visits and hospital admissions. I find it hard to find the words to explain my day to day life with cystic fibrosis, so I've put it in a poem.

A day in a life of living with cystic fibrosis

You look at me and think I'm the same
You look at me like I'm in no pain
Until that second your hear me cough and splutter
Then you stop, stare and mutter

With every long deep breath
With the pains throughout my chest
Sometimes it gets to much
Where I need to stop and rest

There are times I feel tired, exhausted and sore
And times I feel I can't take it anymore
I smile I laugh I pretend I'm ok
Truthfully that's how I make it day by day

Imaging my life without this disease
My life would practically be a breeze
No more fifty tablets a day
Or one hour treatments to make me feel ok

Throughout my battles I have realised this
Without this disease there's a lot in my life I'd miss
From all the CF friends I've made, loved and lost
Who have battled against this disease and their life ended early at a great loss

When I feel like I can't cope
I think of my friends and it gives me hope
With this illness and all it can bring
It's still my life and I wouldn't change a thing
They say having a baby is a big 'No No'
As the percentage who have them is really low

I know I was lucky
I know I was blessed
When those two pink lines
Came up on the test

I had low spiro's
I was poorly and I'd puke
But none of that mattered
when I got my Luke

Cystic Fibros/is unfortunately what my life holds
With endless coughs, tablets, treatments and colds
But with help from Cystic Fibrosis Trust, research and new information to share
Together we’ll make lots of people cystic fibrosis aware!

I hope this has given you an insight into a day of my life living with CF. I was honoured to have been asked to take part in the new brand CF photo shoot, it was a fun day and I enjoyed being involved so hopefully this will raise more awareness of cystic fibrosis. www.cysticfibrosis.org.uk