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!