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

Alex Stobbs explains why he supports the Cystic Fibrosis Trust and why he’s looking forward to the future.

Hi, I'm Alex, I have cystic fibrosis and I turned 23 this year, you might remember me from the book about my life ‘A boy called Alex’.

Having left university last summer, I'm now living in London with my two brothers and preparing for life as a musician. My health has fluctuated wildly over the last four years, so this year I'm focussing on getting stable! Without the burden of a degree and the intensity of singing seven services a week in a choir, I seem to be reaping the benefits of a calmer life!

All my life my family and I have tried to support the Cystic Fibrosis Trust as best we can. We are part of thousands all over the country who are constantly fundraising in order to continue the excellent research taking place in the UK and abroad. Such research has meant that positive stories about cystic fibrosis are becoming more and more common. The introduction of Kalydeco has been transformative for many  patients with G551D, some of whom are waiting for a lung transplant.

The re-launch of the Cystic Fibrosis Trust as a brand will undoubtedly raise the profile of the Trust as it bids to continue raising awareness of a disease which has such a devastating effect on so many people. I hope you'll agree that the Trust does outstanding work..I just hope that this continues so that as many people as possible can learn about - and support - their incredible efforts.

Alex

Ed Nash-Steer's Marathon Challenge - blog three

Ed Nash-Steer’s niece Hannah was diagnosed with cystic fibrosis four years ago, and seeing what people with CF go through everyday motivated him to start fundraising. In 2012 he ran the London Marathon and then began looking for a bigger challenge, which could raise more sponsorship. In 2013 Ed is running five marathons in five days!

Finally the hard work feels like it's starting to pay off...

January's winter weather made training conditions difficult. While everyone else enjoyed building snowmen and sledging, I dreaded going out for my daily runs.

Just finding the time is getting difficult too. I am having to find innovative ways of fitting in the exercise; last weekend I ran to my niece's third birthday party while my wife drove our children.

Over the past month I have gradually increased the distance and last week I ran over 61 miles. Weekday training runs are just over 5 miles and I am running 15 miles on Saturdays and 25 on Sundays.

The long runs are hard but the sense of accomplishment when you achieve what you set out to is difficult to match. Someone once told me that successful people are individuals who decide to do something and just do it. I have taken this maxim into running and daily life.

My nutrition is getting better. I have stopped drinking alcohol, which is great: it's been over a month since my last hangover. I am eating more healthily, cutting out fat and focusing on slow-release carbs and white meat. My issue has actually been eating enough food as I’m not hungry after exercising and I should snack as often as I can. I am still eating chocolate - obviously can’t give that up!!

I am now at my lightest since I was a teenager and the fittest I have ever been but my big concern is staying injury free. Sometimes it’s more helpful not to run but it doesn't stop me feeling guilty if I miss a session.

It's time to start fundraising with a vengeance. So far I have raised £1,850 which is great but I have ambitious ideas of raising over £10,000. Last year my colleagues and I organised a "pub quiz" for our clients and this year we are running a bigger event with over 120 people attending. I am also raising money through family and friends and asking complete strangers. Hopefully my story is compelling enough for people to donate.

Everything's starting to become very real now... it's just over two months away. I need to stick to my plan as the next month's training will be very gruelling.

You can donate to Ed's amazing fundraising campaign here: www.virginmoneygiving.com/edwardnash-steer

The Cystic Fibrosis South West meeting - road testing our research strategy

Janet Allen, Director of Research at the Cystic Fibrosis Trust, braves the elements with members of the CF community to discuss our new research strategy.

I travelled to Bristol for the Cystic Fibrosis South West meeting on Tuesday, together with CF Trust CEO Ed Owen.

This was my first regional meeting and my first opportunity to explore some of our ideas for the Trust’s new research strategy with the CF community. Any strategy needs to be “road tested” before you roll it out, so we held our discussions in confidence.

I was very nervous – what would people think? Were we on the right track?

The weather was atrocious, with sleet and snow, and as it got worse Ed and I were worried that no one would be able to make it to the meeting, including ourselves! Audrey Williams, our South West Regional Fundraising Manager, who put all the hard work into arranging the event, had to turn back when she hit a blizzard en route. 

About 30 intrepid travellers turned up for the meeting, reflecting the commitment of the CF community. There were parents and family members of people with CF and scientists and physicians from Bristol University.

Ed spoke about the Trust and “where we are”, and then I talked about the process of building a strategy and what we wanted our strategy to look like. We then opened the session for feedback, questions and comments.

There was lots of constructive feedback and debate – we even ran over schedule. We had an open and frank discussion and there was a lot of support for the new research strategy approach and how we have gone about the process. Over the next couple of months we are holding more consultations, refining the strategy ready for publication at the end of April.

Thank you Audrey for arranging the meeting and fantastic venue, and above all, thank you to everyone who braved the weather to take part.

CF Unite - one participant's account

As Dr Matthew Hurley discussed in his blog post last week, the first Cystic Fibrosis Unite event took place on Saturday. This was a virtual conference hosted by the University of Nottingham and funded by a Wellcome Trust People Award, discussing Kalydeco. Rose Donnelly, Executive Assistant to Chief Executive Ed Owen, tells us all about it.

The conference was moderated by Professor Alan Smyth, who leads the paediatric specialist cystic fibrosis service in Nottingham, and David Noonan, who has cystic fibrosis. The speakers were Dr David Sheppard from the University of Bristol, Professor Stuart Elborn from Queens University in Belfast, Dr Michael Boyle from Johns Hopkins in Baltimore and Ed Owen, CEO of the CF Trust.

Dr Sheppard began by giving an overview on CFTR (cystic fibrosis transmembrane conductance regulator), explaining what it does, why it doesn't work in people with CF, and what ivacaftor (Kalydeco) does to it. I particularly liked his analogy that ivacaftor affects CFTR like oil on a rusty turnstile - it makes it easier to open and helps it to stay open for longer.

Stuart explained that previous research had shown that milder symptoms of CF are associated with mutations where there is some CFTR function leading to a stratified medicine approach, where specific therapies are designed for specific patient cohorts. The Phase III ivacaftor studies showed very encouraging results in terms of lung function, sweat chloride, weight gain and frequency of pulmonary exacerbations.

Mike's presentation focused on F508del, the most common mutation in people with CF, and the research being carried out by 23 centres worldwide combining ivacaftor with VX-809. Approximately 87% of people with CF worldwide have this mutation, and a therapy successfully treating it could have an enormous impact. Vertex plans to start clinical trials in 2013.

Ed feels the success of ivacaftor represents a paradigm shift in terms of discussion and discourse in scientific approach. Forbes has described ivacaftor as the "most important drug of 2012" and the rapid approval and positive funding position will create more investment. The strategic decision made by the Cystic Fibrosis Foundation was instrumental in developing the drug and the role the patient voice has played cannot be underestimated.

Finally, David Noonan gave a personal account of Kalydeco. After 64 days David has gained 20% lung function, and now feels energetic and has put on weight.

Throughout the session questions were submitted by the virtual audience.

If you were unable to join the event online, you can see a recording on the CF Unite website: www.cfunite.org.

CF Unite - a chance to get involved in research

Dr Matthew Hurley, a Clinical Research Fellow at University of Nottingham, discusses why CF Unite is a great opportunity for people with CF to get involved in research.

I don't have cystic fibrosis. I've met a few people that do, but I don't have the foggiest idea what it's like to have to count out the creon before each meal or find the time in the day to take all the meds and nebs.

I'm just a junior doctor that pretty much fell into doing CF research. But, after 'falling into CF' and after hours of experiments and plugging numbers into a spreadsheet, I have felt the buzz of seeing a beautiful graph showing a clear result. Sometimes there are enough of these rare moments to make a story to take to a conference to tell other scientists. That feels good too. 

The problem is though, researchers can talk to themselves to their hearts content, but if it doesn't make the blindest bit of difference to those with CF, what’s the point? So imagine what it would be like if you - someone with CF or a parent of a child with CF - could make that call: "does this bit of research make any difference?" More importantly, what if you could help plan those studies so that more people would feel able to participate or to help the final result be more relevant in the real world?

I also don't know what it's like to hold a CF meeting and have to put on the advert that cruelly ironic phrase "due to cross-infection concerns we cannot allow people with CF to attend". Sadly it’s a very bad idea to get a group of people with CF in the same room because the bugs would have a field day.

That's why Cystic Fibrosis Unite was formed. It's the 21st century and (almost) everyone has access to a computer, a smartphone, or both. So we can get the people who are doing the exciting research and sit them in front of their computer so that they can tell you what they've done. And what's more you can ask questions and tell them what you think.

So that's what will happen on our first event on 12th January 2013. Dr David Sheppard from University of Bristol will tell us all we ever needed to know about CFTR - the channel in cells that's 'wrong' in cystic fibrosis. Prof Stuart Elborn from Queens University in Belfast will talk us through the first Phase III trial of Kalydeco for people with the G511D mutation. Dr Michael Boyle from Johns Hopkins in the US will tell us the results of the Phase II trial of the combination of Kalydeco and 'VX-809' for people with the most common mutation, dF-508. Ed Owen will also be there to let us in on how stressful it was as the powers that be decided if they would fund it or not, as will David Noonan who is now taking Kalydeco.

So join us online on 12 January and take part. If you can't make it, we're putting a recording of the event on the website and you can ask your question or make your comment on the forum.

To keep in touch with updates and get the link to the event register for updates on the website (www.cfunite.org) or follow us on Twitter @cfunite or Facebook /cfunite. If not just send us an email on info@cfunite.org. If you think you can help, it would also be great to hear from you.