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.

An insight into the Research Advisory Committee

Dr Janet Allen, the CF Trust's Director of Research, provides an update  following the Trust's biannual research meeting.

This week I attended my first Cystic Fibrosis Trust Research Advisory Committee (RAC) meeting. This was a special meeting because we wanted to consult with RAC expert members and ask them to contribute to our early thinking on the new research strategy, due to be launched at the end of April 2013. 

As this was a special meeting we invited Professor Danny Altmann from the Wellcome Trust to start the event. Professor Altmann spoke about the different ways that research can help improve the lives of people living with cystic fibrosis. 

Members of the Committee were then split into three groups and challenged to provide innovative comments to two challenging research questions. I stayed up until 5am to collate all these ideas! I used them as the starting point for a more formal discussion the next day. We also shared with the RAC some of the early thinking on the research strategy that we have developed within the CF Trust and had some very useful and constructive feedback.

This was an excellent meeting and the members of RAC, led by Professor Elborn, worked hard together with senior members of the CF Trust (Ed Owen, CEO, and George Jenkins, Chairman) to provide me with some inspiration as I develop the strategy. 

What is really encouraging is the value placed on the RAC’s contribution to the research strategy. We had a “full house” for these discussions and the senior team at the CF Trust were present throughout.  
 
Watch this space for further information about the exciting developments in CF research.

Sadie's Marathon effort

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!

To be running the most famous marathon in the world for Team CF with my family and friends there to watch me will be a phenomenal experience. Getting a Golden Bond Entry into the marathon was the easy part: suddenly the training I have always done to make sure that I keep my lungs as fit as possible just became very serious.

I want to give myself the best chance possible in not only finishing this bucket list entry, but to remain as injury free as possible. I emailed James Buckingham, owner of Precision Fitness and Performance in Exeter, asking if he would be able to support me with any training and nutrition advice and I could not believe it when he replied to say he would be delighted to help. I start with my personal trainer, Billy Wakeley, this week and he will be getting me ready for race day. No pressure Billy and thank you!

I was diagnosed with CF at the age of four, my younger sister, brother and cousin also have CF and the latter, Neil, is on the transplant list for new lungs. I will be 34 on the day of the Virgin London Marathon. If anyone had told me in my early days that I would be able to contemplate this sort of distance, I would have told them they had the wrong girl.

After long periods of illness as a child, I found exercise turned my health around and my trainers, the open roads and fresh air became my panacea. I am a huge advocate for physical activity in the battle against the bugs and in keeping a strong mind and body. This is going to be the biggest test I have ever put my fitness to but I am confident my determination will see me trotting over the finish line, and then people, it is party time!

I am overwhelmed with the generosity I have encountered on my journey to raise £5,000 for the CF Trust, and the encouraging messages. All news of my fundraising events will be posted on my charity page. http://uk.virginmoneygiving.com/SadieMulvey
 
Sadie is being sponsored by Precision Fitness and Performance 
www.precisionperformance.co.uk

An insight into the Medical Advisory Committee

The Cystic Fibrosis Trust Medical Advisory Committee (informally known as MAC!) meets twice yearly to advise the CF Trust on clinical and medical issues relating to cystic fibrosis, and guide our work in these areas. The Committee comprises expert clinicians – CF adult physicians and paediatricians, specialist CF nurses, physiotherapists, dietitians and pharmacists, and also patient and parent representatives. We highly value this input and are grateful to all of those who give their time on MAC and our other advisory committees to help ensure that our work is relevant and impactful.

The Committee met last week at our Bromley HQ, and a diverse range of topics were discussed and debated.

Director of Marketing Tamsyn Clark presented a preview of the CF Trust's new brand, and sought feedback on the general direction in which we're heading. The Committe's feedback was constructive; ensuring that the clinical community is on board and understands and appreciates our brand and messaging is crucial, as our relations with clinicians are vitally important to our work.

Our annual medical conference is well-attended by clinicians from CF Centres and Clinics across the UK. The next conference will take place in the spring of 2013 and MAC discussed how the event could be enhanced to become more useful for those attending. As Committee members highlighted, study leave is becoming more scarce in the NHS and there are also a number of other conferences competing for delegates, so it is important that we continually evaluate and improve the events that we hold for clinicians.

Our consensus documents provide valuable guidance to clinicians treating patients with CF in critical areas such as antibiotic treatment and general standards of care. MAC identified which documents are due to be updated and also agreed two new documents to be produced; next year work will begin on consensus documents for management of infants diagnosed with CF through screening, and CF-related liver disease.

The Clinical Care team reported that peer review pilot visits have gone ahead and feedback so far on the new peer review process has been very positive. The CF Trust will aim to facilitate around ten peer reviews a year and to have a six week turn around from the official date of review to the publishing date of the report. The CF service will be given six months notice of a peer review and most of the data will be inputted online via an extranet server similar to the NHS system. However, patient sensitive information will not be included in the server.

Dr Diana Bilton, Chair of MAC, reported that the UK CF Registry, which is funded by the CF Trust, currently contains complete clinical data for an impressive 89% of the UK CF population. New data from the Registry will be released before the end of the year.

There was also discussion around the current challenges facing the various specialist groups involved in the provision of CF care (such as physiotherapists and pharmacists). One of the key priorities of the Trust's clinical care programme is ensuring that specialist care is available for everyone with CF, and we work closely with clinical teams to achieve this.

This week our Research Advisory Committee (RAC), which advises the Trust on scientific and research issues in CF and also reviews our research grant applications, is meeting over two days. We'll provide an update soon after the meeting.
 
Read more about MAC and RAC.

Research Conference

As I settle in to the world of research in cystic fibrosis, I am finding out just how exciting some of the work in this field is. All of this will help me when I plan the CF Trust’s research strategy, due to be released in late spring next year.

I went to a conference on Wednesday (7 November) called "Expert View Points on CF Pulmonary Disease - State of the Art", where over 150 healthcare professionals gathered to hear and debate state of the art treatment for lung disease in cystic fibrosis. 

A stellar international expert faculty had been brought together to provide a cutting-edge overview of the different treatment approaches. Experts were drawn from the UK, Canada, Europe, Australia and the USA. Topics covered ranged from the new therapies (those being developed to treat the root cause of cystic fibrosis) to the management of Pseudomonas infections and new infectious agents. 

Highlights from the meeting were the ways the experts provided research evidence to support their presentations. This demonstrated the need for meticulous, well-constructed clinical trials to inform treatment practices, something the CF Trust supports.

In fact I found the meeting so inspiring it was difficult to choose one stand-out talk amongst a series where each one was of such a high standard.  But for me the presentation on adherence was enlightening and demonstrated that development of “personalized medicines” is not just a tailoring of drug therapies. 

Congratulations go to the organisers, Drs Charlie Haworth and Andres Floto, for pulling together such a high-quality expert faculty that the vast majority of the audience stayed on beyond the last session to continue the discussion and debate. 

Watch this space for more research news!

Janet

Read more about cystic fibrosis research and the role of the CF Trust

George Jenkins OBE, Chair of CF Trust speaks about his experiences at NACFC

I have now spent two full days meeting and talking with the world' s leaders in the science, research and treatments of cystic fibrosis.  

I have heard of the rapid and very real advances in recent understanding of the science behind CF, the root cause of the disease and now really do understand the defect that drives the disease, the reason that CF cells do not "breathe" in the way they should and how that leads to the thick sticky mucus and infection we all know so well.  

I can also understand that this recent advance has been won on the back of many years of very hard and determined research by dedicated individuals.  One guy I was speaking to had worked for twenty years on this subject, twenty years of hard work and some blind alleys that have now led to the very start of a "Road Map", a route that has led to the discovery of ivacaftor and upon which further work will, I hope and pray, bring the potential benefits of this drug the many, many more people with cystic fibrosis.

I have been so impressed by this real acceleration in drug research, clearly so have other drug manufacturers who for some time have been watching developments and are now committing to the endeavour.  I know that some of that is generated by the quest for corporate profits, but such profits will only flow if they deliver real drugs for real people.

My son Adam did not and sadly will not get the benefit of these advances and I know that more years of research, development, advances and set backs will be needed until the goal we seek is achieved.  But my investigations,  questioning  and challenge so far this weekend have proved to me that real progress is being made for the benefit of all.

CF Registry Clinical Data Manager - Day two

Elaine Gunn, CF Registry Clinical Data Manager, presents her highlights of day 2 at the NACFC

Day two was the first full day of meetings at conference. There were several parallel workshops during the morning and I chose to attend W2 - Emerging approaches to CF therapy. The highlights of this workshop, and most relevant to me in terms of the Registry, were:

a) The presentation about predicting response to inhaled Mannitol treatment in CF patients. After the worldwide trials of Mannitol, of which we in the UK were heavily involved, the data was assessed to see whether an early response to the drug could be maintained. The data showed that if someone responded well in terms of improved FEV₁ and reduction in exacerbations at six weeks then this response would be maintained at six months. Likewise if the patient did not respond at six weeks to Mannitol then there would be no response at six months

b) The presentation about the Phase 2 trials of the investigational CFTR corrector VX-809 (lumacaftor) administered in combination with ivacaftor (better known as Kalydeco) for patients with the genetic mutation F508del. Several different doses were used and the data showed that 600mg of VX-809 in conjunction with 250 mg of ivacaftor gave the best response in patients with two copies of F508del, showing a significant improvement in FEV₁. The next step for this was to move to Phase 3 studies – a really exciting proposal for the future for patients with F508del gene mutations.

This brought me to lunchtime where I had a chance to visit the poster presentations in the exhibit hall. I looked out the posters with reference to the Registry including looking at some work on renal clearance from the Nottingham group using Registry data and gender differences in the UK from the Brompton group using Registry data. It is always exciting to see the UK CF Registry being referenced.

The afternoon took me to a symposium on updates to infection control guidelines and then onto the first plenary session where the 3000+ delegates all sat engrossed in the topic of reversing the basic defect – a vision for the future (I will leave this bit of the blog to Dr Janet Allen, our Director of Research!).

Finally at 6pm the welcome reception provided a chance for networking and renewal of acquaintances from previous conferences, and discussion around the common themes of our work.

And so to bed with the alarm set for 0600 for day 3!

Use of electronic and social media

Jo Osmond, Director of Clinical Care and Commissioning, attended a session on use of electronic and social media to improve adherence and support without crossing boundaries.

"I attended this workshop which discussed several pilot studies that have been undertaken to consider the use of electronic and social media to improve adherence and education.   

A 12-month study in Cincinnati showed a 50% improvement in attendance at outpatient clinics with the use of text message reminders. The same study also showed a 35% improvement in adherence with text medication reminders.   

A follow-up questionnaire revealed that parents felt that they would benefit from being able to communicate with other parents, and share knowledge and concerns. They also felt that they would benefit from being able to connect with members of their clinical teams. Patients themselves also felt that they would benefit from use of social media in terms of knowledge sharing, ideas sharing and support. 

As a result of this work in the US a new website has been established called CFfone, with age-appropriate signposting for patients into 11-17 yrs and 18+.    

Of course, in the UK parents and patients make good and regular use of the CF forum via the CF Trust website, and also chat via the CF Trust Facebook page but maybe there is scope for use of text messaging between clinical teams, patients and families to improve education and adherence." 

The science behind the development of the new generation of medicines

Dr Janet Allen, CF Trust Director of Research, explains the science behind the development of the new generation of medicines targeting the basic defect in cystic fibrosis.

Exciting new work presented at the NACFC reveals the science behind the search for more effective drugs to treat the commonest genetic mutation in cystic fibrosis (F508del). 

The CF gene provides instructions for making a protein called CFTR (cystic fibrosis transmembrane conductance regulator). This protein controls the movement of salt and water in and out of the cells within the body.

Depending on which mutation is present in the gene, the CFTR protein is either missing or doesn’t work properly. In those with the F508del mutation, the CFTR protein is misshapen and the body removes it (the protein must fold into very complex shapes to work in cells and act as a channel.)  So, CFTR is effectively absent in this mutation.

At the meeting today, scientists showed that the F508del mutation affects the folding of the protein through two separate mechanisms and both need to be corrected to allow the channel to fold correctly.  This detailed understanding of the basic mechanisms of the folding pathway permits the development of sophisticated new ways to search for drugs that will be more effective in correcting it. 

This study shows the critical role that basic science has in generating the next generation of drugs.

Let's mention the K word!

Ed's second blog from the NACFC

There's one word on the lips of most people here at the North American CF conference. It is Kalydeco - or, to give it its scientific name, ivacaftor.

The CF Foundation - our sister organisation in the States - describe it as "a game-changer" as it's the first CF drug that addresses the basic genetic defect.

As we know, Kalydeco is effective for those with the G551D mutation - about 4 per cent of the UK CF population - and we are calling on Vertex, the drug's manufacturer, and the NHS to do the right thing and ensure all those who need it receive it as soon as possible.

If you haven't already, help us put pressure on both by signing up to our petition here which we will present before their meeting on 22 October.

We met representatives of Vertex in Orlando today to reinforce this message, and they assured me that they would do everything they could to achieve this outcome. The Trust and the CF community expect nothing less.

Vertex also used today to present to the conference new findings from the clinical trials they have conducted on a drug to treat those with the F508del mutation, the most common form of CF in the UK and worldwide, Vertex have published data about this on Vertex’s website.

The drug is a combination of Kalydeco and a substance called VX-809, and Phase II trials in the US have shown significant impact on lung function for those with two copies of the gene.

Larger Phase III trials are due to begin early next year, and it is likely that UK patients will be included. Vertex are also doing further Phase II trials to see if a higher dose of the combination drug has an impact on those with a single copy of the F508del.

And there are final trials beginning using Kalydeco on young children under 6, and on those with the R117H mutation.

These are exciting times for CF care and research. There is real potential that, for the first time in 50 years, we are on the cusp of transformational treatments for CF.

There is much to do to extend and improve the lives of all people with CF. But, together with the advances in other treatments and care, many at this conference are beginning to believe that the future will be one that few dared even hope for just a few years ago.

Elaine Gunn, CF Registry Manager blogs from NACFC

Here I am in Florida and looking forward to find out about the US Registry on cystic fibrosis and finding out if we can make any further improvements to our own registry here in the UK. At 1230 yesterday it was the US Registry Co-ordinators Meeting. 

This annual meeting is really interesting for me as it brings together all the people who are involved with all aspects of the US registry.  It is great to know that all the same queries and questions we experience in the UK are almost mirrored in the US albeit on a larger scale. 

The CFF Registry Team lead had planned an interesting programme and kicked off by giving an overview of where the US registry was up to.  Having undergone a complete overhaul in 2010 with the introduction of a new version - which was not without some problems encountered by the users - it was now working really well.

It was encouraging to see the availability of new reporting tools for centre outcomes, quality improvements and research, what a great resource and it has taken their registry to a whole new level.

There were 27,000 people with CF registered on the US registry in 2011 and their report will be available at this conference and will be published on the CFF website

There was a presentation on data entry queries and a new initiative around patient outcomes and an audit programme to ensure high quality data was being entered. 

The session finished with a mention of the UK US collaboration work which we are involved in. We are looking at different comparisons between the two countries.  Some of this work is to be presented later on in the conference – watch this space!

Ed’s Blog – from NACFC - 11 October

So the 26th North American CF conference is underway.

It's being held in a vast conference centre in Orlando - and brings together 4,000 clinicians, researchers and others to hear the latest advances CF research and clinical care.

It’s hot here - but I don't want you to think we are seeing much of it. There are loads of important workshops to attend and people to see.

I am blogging from a meeting sharing ideas from CF centres in the US to improve health outcomes for those with CF. Some great ideas around improving adherence to treatment and targeted work focused on those who are showing a decline in lung function.

We have just heard a presentation from our own Great Ormond Street, about their "Frequent Flier" research programme. This explores how more intensive exercise can help improve outcomes for sickest children. The work showed promising results and shows how important regular exercise is to improve wellbeing of people with CF. I am very keen to explore how we, the Trust, can help encourage all individuals and families touched by CF to put exercise at the heart of their treatment regime.

One of the key issues that keeps coming up in introducing methods to improve the quality of clinical care, is the importance of involving patients and families in shaping them. This is vital, and what should be at the heart of any changes being made by CF centres in the UK.

Of course, people with CF are the key group that are not present at this conference because of cross-infection policy, but patient feed back is absolutely crucial.

I hope our blogs over the next few days can help make up something of this gap!

George Jenkins OBE, New Chair of CF Trust

Hello! My name is George and I wanted to introduce myself and and tell you a bit about me and my commitments to the charity.


My connection to Cystic Fibrosis is very personal. My son Adam had Cystic Fibrosis and sadly passed away in 1995, so I know how important the CF Trust is in securing a better and longer life for people with CF. As a CF parent I know only too well of the huge impact this has on the whole family, the extended family and our very way of life is different to others.


It is those thoughts that will be in my mind everyday as we work at the CF Trust for real improvements in living with CF.


I am absolutely passionate about the CF Trust and know that the work it does gives people with CF hope now and for the future. The impact on improving standards in Clinical Care has been great, ensuring patients have the care they should rightly receive and has meant so much to those affected by CF.


My background in business and then more recently as Chair of various NHS Trusts means that I have a good knowledge and experience of how highly the charity is regarded by clinicians, but also understand the challenges it faces in achieving the very best standards of care across all of the UK’s CF Centres and specialist wards. I am also excited by the research the CF Trust is currently funding: advances in medicines to treat CF can have an amazing impact on children and adults with CF.


I am looking forward to pushing the Trust's Living Longer, Living Better strategy and making sure it's positive financial position continues to grow and build. I'll be writing this blog regularly to give you updates on how things are going here and all the successes we have achieved.


In the meantime for those of us having a break over the summer, I hope we manage to escape the British weather and have a good summer holiday.

Best wishes


George

Message from Ed Owen

It's my second day as the new chief exec of the CF Trust, and I confess I couldn't wait to get back into the office this morning!

I have been involved with the Trust for almost ten years. I am a CF parent and have been a trustee for the last few years. So it's not entirely new territory for me. The job is an extraordinary privilege, and I am determined to ensure the Trust is doing all it can to improve the lives of those with Cystic Fibrosis.

There is much that those of us connected with the Trust can be proud of - the investment in gene therapy now in clinical trials, the fantastic work to raise standards in clinics, the vital information and support we give to families, and the wider activities to raise awareness of CF. Yet there is so much more to do.

That's why we have a new strategy - "Living longer, living better" - which sets our guiding vision for the next few years. My task is to ensure we deliver it. So we will soon be outlining a new vision for CF research and we have ambitious plans to boost our fundraising and communications efforts too.

It's an exciting time and one which needs all parts of our CF community - those with CF, their families, supporters, clinicians, researchers, trustees and staff - to work together for a common purpose. I hope I can do my bit to make that happen.

All the best

Ed
www.cftrust.org.uk

If I get my transplant I am hoping to do as much charity work as possible.

Hello, I'm Kerry Thorpe and I'm one of the faces of CF week!

I am 21 and I have 'end-stage CF' meaning I need a double-lung transplant to survive. My life is endless treatments, pain meds, IV antibiotics, I'm on 24/7 oxygen and I require a wheelchair as I get too exhausted when walking, I also struggle to climb stairs and do simple tasks such as showering and getting dressed.

Recently I've been extremely unwell, I've been on IV's since October with very few breaks, I have had 2 lung collapses requiring chest drains and then a 3rd smaller one, which thankfully didn't need a drain but it is ongoing and I still have the collapse today.
   
Due to this I can't do anything big for www.cfweek.org.uk but I am raising awareness from my living room!

In the past year I've dedicated myself to raising awareness and money for CF, my family and friends all abseiled down a building raising over £3,000, I was guest of honour at a press ball which raised £15,000 for 3 charities, the main one being CF. A good friend of mine held a ball for her birthday and all 'presents' were to be donations to CF. Also another friend is holding a party in July, all money raised through tickets etc will go to CF Trust.

If I do get my transplant I am hoping to do as much charity work as possible, I'd love to skydive or take part in a bike ride. I would also love to run the marathon, but I will start small and work up!

I hope you have a great week and manage to raise lots of money (and awareness) for CF.

Also if you haven't, please consider signing the donor register - you could save lives. www.organdonation.nhs.uk.

Thank You!
Kerry x

"I treat CF, it doesn't treat me."

I was diagnosed with Cystic Fibrosis at five weeks old so I have never known any other way of life.

Having CF growing up has been a big challenge with having regular hospital appointments; this meant I missed a lot of school over the years, so I was always playing catch up.

Throughout paediatric care I was having IVs every six months. I was lucky enough for my mum to have learnt how to do them, which meant I was able to have the antibiotics at home. With having frequent IVs my veins started to pick up a lot of scar tissue so at the age of ten years old I had my first portacath (port) put in my chest. I can remember that day as if it was yesterday - I was very scared and ended up locking myself in the toilet for awhile whilst I got my head around things. This port only lasted one year. I had my second port put straight in, and lasted about eight years before breaking during a course of IV antibiotics – but this time there were complications. At this time I had already moved to Liverpool Broadgreen Hospital. I remember having blue dye put through my port then having an X-ray to see where it had split - the doctors said it had broken and we booked a date to have it taken out. A short time later we were in the hospital cafe when suddenly my CF doctor, physiotherapist and a heart surgeon were sat at the table with us, I was told to finish what I was eating and a few hours later I was in theatre - the port hadn’t just split, the tube had broken off and had gone through my heart and was embedded in my left lung. When I came round the doctor said how lucky I was to still be with us. The day happened so quickly I didn’t have time to think about things but it really has opened my eyes on life.

At Liverpool they only give me IVs when and if I need them. Being very active I managed to not have any IVs for two years. Since leaving school I have gone on to coaching cricket for a living and over the last three years I’ve been lucky enough to win some awards (Shropshire Young Coach of the Year 2010, West Midlands Young Coach of the Year 2010 and Sky Sports National Young Coach of the Year 2010 runner-up).

Within the last two years I have lost two close friends who had CF so I have decided on 1 June 2012 myself and eight of my friends will be cycling from Land’s end to John O’Groats to help raise money and awareness for the Cystic Fibrosis Trust.

Being asked to take part and to be one of the faces of Cystic Fibrosis Week 2012 I couldn’t say no. This is a huge opportunity for me to help with awareness as it is hugely important people know about CF and the effect it has not only of the sufferer’s life but the effects it has on the family as well.

I’ve always looked at Cystic Fibrosis in the way that I treat CF, it doesn't treat me.

James

James Wojda

Big Brize Bounce

Hello!

It's day 4 of CF Week and we are hoping that the weather will cheer up! Today a few of us are going to the RAF Brize Norton, Big Brize Bounce. It is a World Record Attempt for biggest number of people racing on space hoppers.  Take a look at what they will be getting up to.  Brize Norton decided to hold a large event today to support Cystic Fibrosis Week, we are expecting up to 1000 service men and women to take part.  They decided to do this because two of the men on squadron 47 have children with Cystic Fibrosis.

In all the busyness here at CF Trust HQ, with our Big Cake Bake and Information Day, it's important to remember why we are raising awareness and funds for Cystic Fibrosis. So often people only know about CF when it affects one of their family or friends. Whatever you decide to do for CF Week, be sure to speak to people about the Week, mention our website www.cfweek.org.uk and ask them to mark the week by finding out what they can about CF. You could also ask them to donate to the CF Trust to help us go on supporting families and funding medical research. It is through our support and advances in treatments that we can truly make a difference and help people with Cystic Fibrosis to live longer and better lives.

If you live somewhere where you can get a Metro newspaper you'll see on page 13 a great article about CF Week and 48 year old twins, Christine and Michelle who are living with the condition.

If you want to take part in an event near you there is still time, visit: www.cfweek.org.uk and take part.

Love
The CF Week Team!
x

‘Breaking the mould’

Hi Everyone,

I’m one of the stories for CF Week and I’m celebrating today, 1 May, as it’s my gorgeous son Felix’s 5th birthday.

Every parent takes delight in the milestones of their off-spring, but there’s extra poignancy for me. Born in 1971 and not expected to live much beyond my teens, I’ve never been complacent about life, taken anything for granted which was exacerbated by the sad death of CF friends. In my 20s I never thought I’d live long enough to have my own wife and child.

Marriage to Katie in 2003 spurred me on that my destiny might be different than I had originally thought. I did have serious concerns about starting a family when there’s no certainty of being alive for them, but I was feeling healthy enough, so it seemed a natural a way to keep defying my illness. When so much of a CF life is not at all normal, it’s fulfilling to do something that your peers see as routine and breaks the CF boundaries.

Three difficult years later on our sixth IVF cycle we got lucky and in 2007 we had our miracle boy. Felix means ‘happy’ in Greek and ‘lucky’ in Latin, so he will be ‘happy-go-lucky’.

Being a parent while managing my daily CF regime of 40 tablets, nebulisers and physiotherapy is punishing and at times counter-intuitive, involving situations that puts my own health second. From the extra tiredness to increased risk of infection to being exposed to the elements when taking Felix out. Indeed, I’m very s of the risks around being too close to him when he has a sniffle and as harsh as it sounds, I shield myself by not kissing him at these times.

I don’t completely hide my illness from Felix, who has always seen me doing my nebulisers and heard me coughing. He doesn’t really ask me about it and just takes it in his stride as children do.
Generally, I do as much as I can and act like any normal dad running around with Felix, which I know he appreciates from me.

When I’m having a dark CF moment, Felix takes my mind off it and inspires me to keep fighting. He is a useful distraction, stopping me from dwelling too long on my personal health battle. Indeed, I only need to look into his eyes to see all my tomorrows.

We have both ‘broken the mould’ in our lives – me to stay in this world and live a longer, better life and Felix to enter it. He’s the best of me, my lasting legacy, the final piece of my jigsaw; and someone I fully intend to see grow up and have his own family.

Outside of working full-time this week, I intend to go for a jog (in between the showers) because exercise has been a vital part of my survival.

I’ll also write my ‘Postcards from Earth’ blog and a chapter of my book which has allowed me to open up about my 40 years of battling CF but gives me the chance to de-mystify the condition for the non-CF community where it needs to be better understood.

In addition, I will sign the e-petition Campaign for fairness for people with CF, submit an online survey to raise money and discuss my CF with Sarah Gorrell on BBC Radio Surrey (104.8FM) this Friday 4 May at 5:30pm.

I want to wish the best of health to all those in the CF community.

Tim

Tim Wotton

Hi Everyone

Welcome to my first Cystic Fibrosis Week blog! I’m working hard to tell lots more people about the vital work of the Cystic Fibrosis Trust to help people with CF live longer, better lives.

I’ve been a patron of the CF Trust for a good few years now and I’ve been lucky enough to meet lots of remarkable young people living with CF. I’m always amazed at their positive nature and strength. Like Kerry Thorpe - she’s awaiting a lung transplant and yet still finds time to keep people up to date with her blogs and news as well as fundraising. Kerry is truly inspirational.

One thing that always strikes me about CF is that it affects people in so many ways. Like Bea who was diagnosed in her 30s, when her own Son was found to have CF at birth. What a challenge that must be, Mother and Son both with CF.

Meeting lots of different people with CF has inspired me to get involved and raise funds for the great work of the CF Trust. This year I’m joining RAF Brize Norton in their World Record Attempt for the largest number of people on Space Hoppers on 2 May. I can’t wait to get bouncing and there’ll even be a live link to the troops in Afghanistan! And I need to remember my ear plugs as I’ll be joined by the amazing Brian Blessed.

I know there’s loads of things going on during the week, from multiple Skydives, Big Cake Bakes, charity walks and much more.

I know by joining in the fun, I’m raising vital funds for the CF Trust to help find a treatment and support the best clinical care.

If you want to do your bit too, you can make a donation or visit www.cfweek.org.uk for some brilliant fundraising ideas. Please follow the CF Trust on Facebook and Twitter. I am really proud to be a part of Team CF and have no doubt that once again CF Week will be a huge success.

Lots of good wishes for a fantastic week!

Ben x

Hi,

It’s me again! This up and down weather is keeping us all on our toes – I’m keeping everything crossed that it stays fine for the end of the month! I know the weather plays havoc with keeping bugs under control for some of you – we’re in the middle of a couple of weeks of  IV antibiotics for Beth; at least we’re getting them out of the way before the week starts!

CF Week is rapidly approaching. We’ve started to advertise more of our Great Strides Walks now – why not take a look and sign up? I’ll be at the Ashridge Forest walk in Hertfordshire and it would be lovely to see some of you there. For those of you that can’t make a 10K walk why not help out by advertising events in your local area? Just drop us a line at cfweek@cftrust.org.uk and we can send you out relevant posters or put you in touch with other fundraisers in your local area. Everyone doing a little is what makes CF Week such a success!

You’ll see on our website www.cfweek.org.uk the story of James Wojda; he loves his sport and is aiming to cycle from Land’s End to John O’Groats later on this year, quite an inspiration for people with or without Cystic Fibrosis. If you’d like to share your story in your area drop us a line at cfweek@cftrust.org.uk and we’ll see what we can do to help.

I mentioned that we have a Bromley Big Cake Bake happening on 2 May, well Steve and Nigel our facilities team are fundraising this year. They are selling parking spaces! Usually our staff can park for free at work, but not in CF Week – they won’t get through the front door without making a donation, why not try this at your office…

Or if you’d really like to raise some awareness we’re also spending an afternoon experiencing the reality of cross-infection. No one in our office can speak to each other face to face. Everyone has to use the telephone, text, Facebook or Twitter – if they need a meeting, they’ll have to hold it outdoors!

Catch up again soon, don’t forget to let me know what you’re up to!

Love Nikki x