A new year's blog by Ed Owen

Ed Owen

One year ends and another begins in the fight to beat CF

Kalydeco might be difficult to pronounce (try saying ker-lie-di-co) and, confusingly, is often referred to as ivacaftor (its clinical name) too. But this little blue pill takes the award for the stand-out star of the last 12 months.

Put simply, it represents the most important breakthrough in the treatment of cystic fibrosis for many years. For the first time ever, following licensing decisions in the US in February and Europe in July, there is now an approved treatment that directly affects the genetic defect that causes cystic fibrosis.

For those with the G551D mutation of cystic fibrosis - for which Kalydeco is targeted - its impact is potentially life-changing. But its development brings real hope to everyone that further transformational treatments can be discovered for other genetic types in the next few years.

But licensing doesn't automatically mean access for what is a very high-cost drug. That is why we have been leading a campaign to ensure that the drug is funded within the NHS - and just a few weeks ago, we received the excellent news that all eligible patients in England will have access to Kalydeco from the beginning of 2013. We are pushing hard to ensure that Scotland, Wales and Northern Ireland follow England's lead soon.

That Kalydeco exists owes much to the foresight and imagination of our sister charity in the US, the Cystic Fibrosis Foundation (CFF). The CFF funded its early development work in partnership with a commercial company - and we need to learn from this as we improve our own approach to research here in the UK.

There have been research advances here in the UK too, and in June the first doses in the Gene Therapy Consortium's Phase 2b clinical trial were administered to patients. This trial will continue to the end of 2013 and we should have results sometime in 2014. The trial is a major milestone in the development of gene therapy research and all those in the cystic fibrosis community who have raised money for this work over the last decade can feel enormous pride in what has been achieved.

Going forward, we are going to be much more clever - and hard-headed - about how we fund research to ensure that the work we support has the best possible chance of getting into clinics as soon as possible. And in 2012 we took the first steps towards this with the appointment of Dr Janet Allen as our new Director of Research. She is working hard on developing an innovative and ambitious strategy to be published at the Wellcome Trust in April 2013.

Janet's arrival was only one of a number of changes at the Trust in 2012. In July, George Jenkins became our Chair and - following five months as an interim - I was made the permanent chief executive in October. It's a genuine privilege to do this job, and we are all focused on promoting the interests of everyone with cystic fibrosis and their families.

Improving the way we communicate with our core supporters, as well as to clinicians, politicians and the general public, is a key part of further changes we are making - and in the spring we plan to launch a new brand that will demonstrate the inspiration, passion and determination that lies behind everything we all do.

There is a great deal of other work going on too, not least the roll-out of our new Quality Improvement Programme in 2013 to drive up standards in CF care across the UK.

But I want to take this opportunity to thank you, our supporters, for your tireless efforts raising money for and awareness of cystic fibrosis. The Trust can only exist with your energy and generosity, and we are determined to repay that commitment by making 2013 a year of real achievement and progress.

Have a very happy new year!

Ed

Microbe management in CF

Pseudomonas bacteria -
a hot topic at the recent
CF Microbiology
Consortium meeting

From 2005-2008, the CF Trust funded the development of the UK CF Microbiology Consortium to bring together research activity from four universities (University of Liverpool, Queens University Belfast, University of Edinburgh and University of Cardiff). The funding has ended, but the Consortium continues to meet annually to promote better understanding of CF microbiology and its third annual meeting was recently held in Liverpool. Professor Craig Winstanley and Dr Jo Fothergill of the University of Liverpool give an insight into what these issues are.

The third annual meeting of the UK Cystic Fibrosis Consortium brought together over 80 CF researchers and clinicians from throughout the UK. There were 16 presentations and lively discussion around each of the four major themes addressed (diversity and adaptation, pathogenicity, therapeutics and epidemiology).

The opening session, chaired by Dr Diana Bilton (Royal Brompton Hospital) and Professor Stuart Elborn (University of Belfast) emphasised the diversity of microbes in the CF lung, and how disease-causing bacteria adapt to the CF lung environment. A better understanding of these issues could lead to novel approaches to therapy. There are many things can influence bacterial communities in the lungs. For example, Dr Will Flight (Manchester Adult CF Centre) spoke about the impact of respiratory viruses on the make-up of the bacterial community. Because it is difficult to do these studies in patients, model environments that resemble the CF lung can be used. Damian Rivett (Kings College Hospital) and Dr Chloe James (University of Liverpool) both described studies using model systems to study bacterial communities. The focus of Dr Volker Behrends’ (Imperial School of Medicine) talk was the metabolic adaptations of the bacteria (the way that bacteria alter their metabolism).

In the second session, chaired by Professor John Govan (University of Edinburgh) and Professor Eshwar Mahenthiralingam (Cardiff University), various aspects of pathogenicity (how micro-organisms cause disease) were discussed. Megan Jackson (Queen’s University Belfast) talked about the role of obligate anaerobic bacteria (bacteria that cannot survive in the presence of oxygen) and Ian Passmore (University of Cambridge) presented work on Pseudomonas aeruginosa type III secretion systems and biofilm formation (two important mechanisms contributing to how Pseudomonas causes damage). Sonali Singh (University of Nottingham) focused on host responses (such as the immune system), and the role of an immune system cytokine that can contribute to inflammatory responses, IL-17. The session ended with a talk by Dr Cristobal Mujica Tronconso, who described the role of two cell wall enzymes in Burkholderia cenocepacia.

In a session on therapeutics (treatments for infection), chaired by Professor Miguel Camara (Nottingham) and Dr Jane Davies (Imperial College, London), we heard talks about novel therapeutic targets (bacterial structures or activities that we can design drugs against) from Dr Matthew Robinson (University of Exeter) and Dr James Lazenby (Nottingham), whilst Dr Nick Tucker (University of Strathclyde) described a new group of compounds with potential as anti-Pseudomonas agents. Dr Rishi Pabary (Imperial College, London and Royal Brompton Hospital) presented a study where phage therapy (the use of viruses to attack bacteria) was used against P. aeruginosa in a rodent model.

In the final session, chaired by Dr Juliet Foweraker (Papworth Hospital) and Dr Martin Walshaw (Liverpool Heart and Chest), issues relating to epidemiology (patterns in populations) were discussed. Jane Turton (Health Protection Agency) presented an overview of P. aeruginosa genotypes infecting UK CF patients and Richard Barton (Leeds General Infirmary) talked about the epidemiology of Aspergillus in cystic fibrosis. The growing threat of non-tuberculous mycobacteria was addressed in the presentation of Dr Dorothy Grogono (University of Cambridge). The final presentation, by Dr Laura Thomas (Cardiff University), discussed approaches to testing preservatives with activity against pathogens important in cystic fibrosis.

In addition to the short talks, there were 16 posters presented at the meeting, covering a range of topics. This growing meeting provides a platform for researchers to present and discuss their ideas. As well as demonstrating the breadth and depth of expertise in the area of CF microbiology in the UK, it also highlights a real enthusiasm and willingness to work together to provide high quality research and practical solutions in this important area.

The meeting was sponsored by Forest Laboratories Inc.

Sadie's marathon effort -blog two

Sadie Mulvey has CF and is running the Virgin London Marathon 2013 in support of the CF Trust. She will be blogging regularly about her experiences so keep checking back to follow her progress!

Well so far, so good! I have managed to relinquish my treats of red wine and chocolate for water and bananas in training for the London Marathon! Begrudgingly at first, I admit, but if I want to give myself the best chance possible of running the whole 26.2 miles, then some sacrifices have to be made right?!

For all you runners out there who just pound pavements: take my advice and don’t just make like Forest Gump. Strengthen and condition your whole body, and your normal runs will become so much easier. I have been lucky enough to be sponsored by Billy Wakeley, a personal trainer in Exeter, and our weekly sessions work on achieving a full range of movement and building up all of my muscles.

If I have learnt one lesson so far it is: incorporate other exercise into your routine, like yoga and swimming, and really consider getting expert advice. Intensive training and 26.2 miles of continual impact? Your knees will thank you.

This blog also brings great news: my cousin Neil who is 23 has very recently undergone a double lung transplant at Harefield and is up out of bed, on the exercise bike testing out his new lungs and looking forward to a new life he has only imagined. Proud of you Neil! It goes without saying, thank you to the donor and their family. You have saved my cousin’s life.

Sponsorship is going very well and I have been overwhelmed by the support I have received so far. Understandably it’s an expensive time of year, so I have decided to take this opportunity to plan for the New Year and hit the ground running (no pun intended!) with events.

Merry Christmas everyone and a very happy New Year.

Sadie

You can donate to Sadie at: http://uk.virginmoneygiving.com/SadieMulvey

Sadie is being sponsored by Precision Fitness and Performance www.precisionperformance.co.uk (Billy Wakeley - 07860 578780).

Clinical trials in cystic fibrosis – time to up our game, by Janet Allen

On 11 December, Professors Alan Smyth and Simon Langton Hewer ran an innovative meeting on “Clinical trials in cystic fibrosis – time to up our game”. I went along and listened to the range of stimulating speakers talking about the value of clinical trials in advancing how we manage cystic fibrosis and the challenges of running multicentre trials, including the immense bureaucratic hurdles organisers have to jump.

But what marked this meeting out was less the interesting and important subject matter, and more the innovative way in which people could participate. About 80 people attended, physically seated in the auditorium, but the talks were streamed live on the internet allowing anyone with internet access to hear what they had to say. The panel of experts answered questions both from those in the auditorium and from the online audience.

Dr Matthew Hurley, Wellcome Fellow at the University of Nottingham organised the streaming. The Wellcome Trust has funded him to set up online conference streaming to allow people with cystic fibrosis, who would otherwise be unable to attend because of the risk of cross infection, to participate fully in this sort of event. Gilead also generously supported this “first”. There were some teething problems and the technology is still being developed, but the team worked hard on the day to sort the problems out and will continue their work to allow those with CF to participate fully in conferences about their condition.

Ed Nash-Steer's Marathon Challenge!

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 April this year he ran the London Marathon and then began looking for a bigger challenge, which could raise more sponsorship.

So I have finally announced to the world that I am running five marathons in five days…

Back in April I proudly ran the London Marathon for CF which was one of the best experiences of my life. I have never tried so hard or prepared for so long for anything before. 

Now I needed a bigger challenge, bigger for me and for those sponsoring me. I am running from Porton, Wiltshire, to London in four days and then running the London Marathon on the fifth day, with the aim of raising over £10,000.  This will be over 130 miles in five days.

I have been training since early September and I’ve already had some massive highs and lows. I was running better and quicker than I ever had but I went through a rocky patch for a few weeks when my motivation was very low. I guess it had something to do with running 45 miles per week without any company and having no smaller targets to aim for. But since I ran the Cardiff Half back in October I have found my mojo again. It’s a great course and I ran my best time ever (1hr 35 minutes). Since then I made a better training plan and have started to spread the word. In my first week fundraising I’ve raised £1,300 and have had pledges for more.

My next marathon is on 23 December in Portsmouth and my current training is focused on completing this whilst still being in a decent shape to enjoy Christmas. My mind wanders across many subjects when I have a few hours of running ahead of me. Sometimes I think about the amazing crowd last year, about Hannah or my work; but most of the time I simply zone out and think about nothing, which when you lead a busy life is pure bliss. I never thought when I started running last August that I would enjoy each and every run I go on. 

People think I am nuts to be running so far and I always get asked why am I doing this? There are many answers I give but the truth is… because I can, because I should and because it makes a difference. 

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

“Living into adulthood is now expected.”

Last month a cystic fibrosis course was held at the Royal Society of Medicine in London. Dr Nicholas Simmonds, Consultant Physician in adult CF at the Royal Brompton Hospital in London gave a fascinating presentation on ageing and long-term survival in CF, and has kindly summarised his talk for the CF Trust blog.

Dr Nicholas Simmonds

The demographics of cystic fibrosis, particularly median survival, continue to improve at a rate unparalleled to most other chronic conditions in medicine.

Within a few decades average survival has more than doubled and now stands at 41.4 years (CF Trust Annual Data Report 2010).

Children born with CF from the early 2000s are expected to live beyond 50 years of age and over 55% of the current UK CF population are adults. Living into adulthood is now expected – currently over 22% of UK CF individuals are in their 30s and over 7% aged at least 40! In paediatrics, the emphasis is now very much on when a patient will transition to the adult clinic (not if) and the aim is to transition with normal lung function with planning for a full and active life (e.g. college, work and relationships etc). 

My presentation at the Royal Society of Medicine highlighted this change in demographics and outlined some of the important reasons behind the improvements (e.g. keeping lung function and weight optimal from an early age, keeping Pseudomonas infection at bay by effective treatment, etc.). 

It also highlighted that all this good work is not straightforward to individuals with CF and comes at a cost – time, energy and effort – as treatment/physiotherapy is intensive and needs to be sustained throughout life. As clinicians and researchers we recognise this and are continuously looking for new and innovative ways to help (faster nebulisers, for example). 

Currently the majority of our adult patients are co-habiting/married and working – as a specialist adult clinic we aim to do all we can to support our patients to progress in life while at the same time providing effective specialist healthcare. The next few decades are likely to continue to bring exciting and important challenges – new drugs are being developed and the adult population will continue to increase. With this we recognise the need to continue to adapt and develop for the CF adults of the future.