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.