New Medicines in Scotland

On Monday, Cayston, a new nebulised treatment to tackle Pseudomonas in people cystic fibrosis was approved for use in Scotland. Here, Yvonne Hughes, Public Affairs Officer for Scotland tells us more about how such decisions happen.

The decision this week by the Scottish Medicines Consortium (SMC) to approve another drug for cystic fibrosis underlines how the work the Cystic Fibrosis Trust does here in Scotland is making an impact. As Public Affairs Officer, ensuring access to new medicines is a part of my job that may appear a bit boring at first, but is an essential and enjoyable part of my work and allows the Trust to make the representation on behalf of the CF community.

With the help of clinical CF staff across Scotland, I am able to contact patients who are on the trial for the new drugs being assessed. It is crucial that the patient experience and that of their families is captured in papers we submit to the SMC as it could be the difference between a Yes and a No recommendation. Without your help drugs like Kalydeco and Cayston may never have got to clinics, so I am extremely grateful. I have also made a few friends in the process! As someone with cystic fibrosis I understand how isolating it is, so to speak to you and hear your stories is always a pleasure.

The recent Cayston decision fell under changes made last year to the way medicines are appraised to improve access for those at end-of-life or with a rare disease. A Patient and Clinician Engagement meeting (PACE) has been introduced where it is likely a drug may not be approved. Cayston went through this process and we found it to be valuable, particularly as we were able to talk about living with cystic fibrosis direct to people involved in making decisions around new medicines.

The changes to the SMC will be up for review this year and I shall feed in to that process but in the meantime I will continue to ensure that patients with cystic fibrosis are represented when new drugs come online. Please feel free to leave a comment or get in touch with me yvonne.hughes@cysticfibrosis.org.uk.

Newborn Screening

With newborn screening in the news, Rebecca Cosgriff, UK CF Registry Lead, looks at the difference the heel-prick has made in detecting cystic fibrosis sooner. 

2015 is off to a great start with the news that newborn screening in England will now detect more genetic diseases.  Wales will expand its newborn screening programme later this month, whilst Scotland and Northern Ireland are yet to announce a decision.

Newborn screening involves pricking the heel of a baby between five and eight days old, so that the blood sample can be tested for genetic disorders. It is important to diagnose genetic diseases as soon as possible, so that treatment can begin before organs are damaged.

Following a Cystic Fibrosis Trust campaign, newborn screening has been routinely used to detect cystic fibrosis since 2007. UK CF Registry data shows that since then the median age of diagnosis each year has dropped from five months to 30 days. The number of people diagnosed each year by the time they are three months old has increased from 46% in 2007 to 72% in 2013. During the same period the median age of death has risen from 24 to 29 years.

It’s fantastic that the example of cystic fibrosis, along with other genetic diseases already part of the programme, has paved the way for similar improvements in these new areas.

Looking Back, Moving Forward.

Ed Owen, Chief Executive of the Cystic Fibrosis Trust, looks back on our 50th anniversary and the successes of those 50 years, and how the Trust will build on them as we enter 2015 and beyond.

The Trust's 50th anniversary was never cause for celebration. How could it be when so many with cystic fibrosis can still only dream of reaching such a milestone, and when the lives of so many young people like Emily Thackray, who died this week , are so terribly cut short?

But 2014 has enabled us both to mark the contribution of all our supporters and, most importantly, to redouble our effort to beat this cruel condition for good.

The decision of HRH The Prince of Wales to take on the Patronage of the Trust this year was a fitting reward for the extraordinary commitment and dedication of all parts of the cystic fibrosis community - people with the condition, families, supporters, fundraisers, campaigners and many others .

The tireless efforts of so many over five decades has helped ensure vital research is funded, NHS care has improved and over time, turned what was exclusively a childhood disease in the 1960s into one where the majority of those with cystic fibrosis in the UK are adults.

And I want to add my tribute too. So, on behalf of all of us who work at the Cystic Fibrosis Trust, I send a massive thank you for everything you, our supporters, do on behalf of those we are here for.

Yet with so many young people dying early, and with the lives of all those affected being limited so severely by the daily physical and psychological burden of cystic fibrosis, our collective community activity, unity and voice are as critical today as they have ever been.

We are at the beginning of a new era of opportunity in the treatment and care of cystic fibrosis. Research breakthroughs offer the prospect of gene-modifying treatments for many with the condition, and new technology promises new ways of improving health and wellbeing.

2014 saw further steps forward with the continued use of Kalydeco showing extraordinary results for those with the G551D mutation, and results of Vertex's Phase III trial into its ‘combination therapy‘ focused on those with two copies of DF508. The latter is soon to be considered by European regulators with a decision likely in late 2015.

The Phase IIb trial of a gene therapy product was also completed in the summer of this year. This is the latest development of work which has been generously supported by the cystic fibrosis community in the UK over many years, and we await the results with keen anticipation.

After a short delay caused by further work processing the trial data - this is the largest research study of its kind in the world - we expect the Gene Therapy Consortium to publish the final results early in 2015.

Alongside these promising developments, the Trust has been investing in other vital research projects aimed at tackling issues of real concern to those with cystic fibrosis. Three new Strategic Research Centres were announced early in 2014 focused on vital issues like pseudomonas and NTM - and we are due to announce a further three new SRCs in early 2015 ensuring that the brightest and best scientific efforts we can find are focused on the issues that really matter.

2015 will also see the development of the Trust's SmartCareCF programme to bring industry and academic experts together with people with cystic fibrosis, their carers and clinicians to develop new forms of care using smart technology and big data.

SmartCareCF is one of a number of ambitious programmes we at the Trust are developing as part of our renewed determination to beat cystic fibrosis. These include new research projects, better support for people with cystic fibrosis and more effective ways to campaign for new drugs, tackle funding shortages in the NHS and raise wider awareness of the condition.

In order to deliver these ambitious plans we must ensure the organisation of the Trust is fit for the task. So we are making a number of internal changes including the introduction of new skills and expertise in specialist areas of fundraising, research and communications; investing in new IT and looking at new accommodation options; and bringing in new talent at trustee level to ensure the Trust is being led effectively at this important time.

We are also improving the way we communicate, support and learn from our supporters, particularly those living with cystic fibrosis - and sharpening our message to raise wider awareness and impact. 

This recent film produced for our partnership with the British Comedy Awards is an early example of how we can do so.

50 years on and, with your support, the Trust continues to play a major role in improving the lives of people with cystic fibrosis in the UK. But we must now seize the opportunity to make transformational change over the next few years. With the help of the wider community here and overseas we can and will ensure that cystic fibrosis is barely more than a distant memory when the next 50 years comes around.

A cystic fibrosis 'cure'? - Understanding this week's research news

Following recent news reports of a ‘cure’ for cystic fibrosis being within reach, Cystic Fibrosis Trust Chief Executive Ed Owen discusses the promising research at the centre of the story, and the need to think big but stay grounded.

Nothing is more guaranteed to get all of us excited than stories of a possible ‘breakthrough’ or ‘cure’ for cystic fibrosis.

So a news item on Channel Four News this week heralding a research project led by Dr Anil Mehta in Dundee as a possible cure for cystic fibrosis has understandably caused a wave of interest among many of us affected by the condition here in the UK.

In a blog on Tuesday accompanying the news piece, the veteran broadcaster Jon Snow described the research as a “Eureka moment” that offered the hope of a “cystic fibrosis cure”. Many people called our office to find out more, dozens tweeted and hundreds posted messages on Facebook at what appeared to be a remarkable moment.

So amid all the excitement, what’s the reality?

First, it is important to note that no research paper has yet been published so we at the Trust have not been able to see the detailed analysis. But the facts according to the University of Dundee’s press statement are that in an early stage clinical study undertaken in Italy, medics trialled the combined use of two drugs already licensed for other conditions - Cysteamine, and epigallocatechin gallate (EGCG) – involving 10 people with cystic fibrosis with two copies of the DF508 gene.

The University statement says that the study found that the two drugs given together reduced inflammation in 9 out of 10 of the patients’ airways and also dramatically reduced their sweat chloride levels. Obviously, then, the research looks promising. But it’s at an early stage trial and used only a very small sample.

I had the pleasure of speaking with Dr Mehta on Wednesday and he agreed with me that talk of a potential cure was misplaced. He acknowledges that his work is at an early stage but wants it to now go forward to a larger Phase 2 research study involving 120 patients. He is planning to submit an application to the Government’s Medical Research Council (MRC) which supports this kind of clinical research in the UK, although there are a number of regulatory hurdles the work needs to overcome first.

As a result of the extraordinary support we receive from thousands in our community, the Cystic Fibrosis Trust is currently investing in a wide range of research projects aimed at improving and transforming the lives of people with cystic fibrosis. This has helped fund earlier stages of Dr Mehta’s work and our new Venture and Innovation Awards created last year are targeting funds at projects like this one as a way of bringing in even larger sums of money from the Government and other quarters.

Dr Mehta and I discussed these funding arrangements and – once we have analysed the full details of this work – we stand ready to offer such an award as part of the process of bidding for MRC funds.

But, three days on from the story being broadcast, I confess to feeling disappointed at the way it was covered.

Talk of breakthroughs and cures make great headlines. But such hyperbolic coverage risks the unwitting manipulation of the emotions and passions of those of us desperate to believe that there is an imminent prospect of being freed from the terrible clutches of cystic fibrosis. Put bluntly, such stories bring into sharp focus the stark contrast between longer life and an early death.

I say this not to pour cold water on all our hopes because this particular project looks promising – and I am hugely optimistic about the wider future for cystic fibrosis. Kalydeco is already correcting the basic genetic defect of cystic fibrosis for four per cent of people with the condition in the UK – and, with the active support of the cystic fibrosis community, I believe we can help ensure that new transformative therapies and treatments will be introduced over the next decade that move us closer to our goal of beating cystic fibrosis for good for all.

But developing these drugs is expensive and often a long slog – and what might look hopeful at an early stage of development cannot be assumed to be a guaranteed success in clinical terms further down the line.

So the lesson to us all from this week is let’s keep thinking big, but with our feet on the ground – even if, sometimes, media headlines tempt us to do otherwise.

From Atlanta to the Summit

Last week saw the annual North American Cystic Fibrosis Conference take place in Atlanta, USA. The world's largest gathering on cystic fibrosis saw clinicians, researchers and carers came from all over to discuss the latest developments and progress towards beating cystic fibrosis for good. The Trust sent over four delegates, and Ed Owen, the Trust's Chief Executive, offers his thoughts on the outcomes from the three-day event.

“I have no doubt that we will reach the summit.” These were the words of Dr Mike Boyle, associate professor of medicine and director of the Adult Cystic Fibrosis Program at the Johns Hopkins School of Medicine in Baltimore, speaking at the 2014 North American Cystic Fibrosis Conference last week comparing the extraordinary progress that has been made in beating cystic fibrosis with the challenge of climbing Mount Everest.

For Mike, the discovery of the cystic fibrosis gene in 1989 by researchers from the US and Canada – with a little help from our very own scientists here in the UK – was the equivalent of reaching Base Camp. Since then, we have been moving up the mountain with significant discoveries.

The development of Kalydeco as the first therapy to treat the basic genetic defect, and the pipeline of new combination therapies are major breakthroughs – and other work like gene therapy, stem cell research and genetic editing will get us closer to reaching our goal.

Tragically, these developments cannot come soon enough for those living with the condition – and, for many, they will have come too late.

But these advancements are testament to the extraordinary power of the cystic fibrosis community.  When people with cystic fibrosis, their families, clinicians, scientists and others work together, we can and do change the world.

And that community is truly global, as witnessed at last week’s conference. More than 4,000 people from across the world converged on Atlanta to discuss the latest developments in research and care, and to confirm our collective focus on beating this cruel condition.

The cystic fibrosis community here in the UK and the Cystic Fibrosis Trust play a key role, not just because we represent more than a 10th of the global CF population; but because of our active and informed community, our dedicated clinical professionals, our expert scientists and established industry base.

The combined resources of the UK, Europe, North America and Australasia are massive and we therefore took the opportunity to meet key people in the CF world to build new collaborations. This included catching up with a number of sister organisations, including the Cystic Fibrosis Foundation (CFF).

Bob Beall and Preston Campbell have led the CFF for well over two decades, and have done more than many to advance our collective cause.  We discussed a series of potential exciting collaborations in research and care which I hope we can bring to fruition. They were impressed by our investments in research on pseudomonas, NTM and other projects and want to work closely with us.

We also met many of the established pharmaceutical companies including Vertex, Gilead, Forest, Insmed and Roche, as well as smaller companies like Verona with which we are hoping to build closer links to develop new drugs and therapies. Also centre stage in our discussions with industry and clinicians were our plans to develop a new model of care with remote digital technology enabling people with cystic fibrosis to take greater control of their lives and improve their health and wellbeing.

There was disappointment in Atlanta that the UK Gene Therapy Consortium was unable to present the results of its Phase II study. This is work we in the UK cystic fibrosis community have given so generously towards over many years and there is great anticipation of the outcome. But there was understanding across the conference that it was vital that the data, when published, should be robust and complete.

In gene therapy, as with so many areas, collaboration is essential to make progress. That was the constant theme of the Atlanta conference and, with the support of the UK community, the Cystic Fibrosis Trust will play a leading role in improving and transforming the lives of all people with cystic fibrosis.

I return to the UK more determined and more confident than ever that we can reach the summit and achieve our ultimate goal of beating cystic fibrosis for good.  It won’t be tomorrow or even in the next few years. But we will continue to make great progress and, with the right support, we will get there.

For those who want to see more from NACFC, you can now watch recorded videos of the live streamed sessions.

First Impressions from Atlanta

Today sees the start of the North American Cystic Fibrosis Conference (NACFC), the largest cystic fibrosis gathering in the world, in Atlanta. We've sent four delegates from the Trust to the event and our first blog comes from Rebecca Cosgriff, our new Registry Lead, on her first impressions from being a first time attendee to NACFC
This is my first visit to Atlanta, the home of CNN and Coca Cola. But, more importantly, it's also my first time attending the North American Cystic Fibrosis Conference. After being appointed as Registry Lead back in August, this conference has been an excellent baptism of fire into a 4,000-strong sample of the international cystic fibrosis community.

The atmosphere is positively fizzing over with enthusiasm for helping people with cystic fibrosis to have the same opportunities as those without it. Much of the content over the coming days is rooted in the aspiration for people with CF to be held back no more by a cumbersome medical regime, discomfort, or fear.

As the person within the Cystic Fibrosis Trust responsible for the UK CF Registry, the database that records and reports on the health and care of people with CF, it's been great for me to meet international counterparts. The prelude day to the conference has seen a flurry of Registry-based activity, illustrating the importance of these projects to improve care and outcomes for people with cystic fibrosis.

First up was the Cystic Fibrosis Foundation's Registry Coordinator's luncheon, which saw presentations from the US Registry team on data quality, future plans, and research. It was great to see that that our ambitions for the UK CF Registry are aligned with theirs, with a little friendly rivalry helping to drive impact for people with cystic fibrosis. The dedication of the Registry coordinators was evident; something which is echoed by those responsible for entering and checking data in the UK. Some attendees had been participating in the US registry since its conception in the 1980s!

Later in the afternoon I was able to attend the inaugural CF Registry data harmonisation meeting; an initiative aiming to help international registries work together to evaluate care and detect ways to get the best outcomes. Work of this nature enabled the recent publication of a UK/US data comparison, which found important differences in the outcomes for paediatric patients in the two nations. The meeting saw registries from all over the world, including Brazil, Spain, Australia and of course the UK, represented. This further illustrates the commitment of Registry teams to enable the comparison of international data. We came away from the meeting with new priorities, and plenty of volunteers to form the expert groups that will seek to address them.

With the conference officially commencing tomorrow, I already feel I have the beginnings of a valuable global network, and plenty of great ideas, that can be used to maximise the benefits of the UK Registry when I return to the Trust next week. 

Time To Talk Organ Donation

From December 2015, deemed consent of organs will be granted in Wales in the event that someone passes away, unless they have opted out or said otherwise to their loved ones. As the Welsh government works to prepare people for the change in the law, Kayleigh Old, Public Affairs Officer for Wales at the Cystic Fibrosis Trust, explains why it’s ‘Time to Talk Organ Donation’.

The Cystic Fibrosis Trust is supporting the ‘Time to Talk Organ Donation’ campaign, the Welsh Government’s initiative to encourage people to let their loved ones know their wishes regarding organ donation in the event of their death.

As the people of Wales get closer to the historic move to a soft opt-out system, it is vital that all of us, wherever we live in the UK, talk to our families and friends about what we want to happen after we go.

Losing someone you love can be one of the most emotional, confusing and painful experiences, and being asked about someone’s wishes after they have died can add to that stress and sense of loss. By talking your feelings through clearly with your family, you can remove any doubt they may experience in the unfortunate event of your death, and ensure that your wishes are carried out.

With the Trust’s commitment to improving transplant rates for those with cystic fibrosis, this initiative is very encouraging; we believe that the Welsh Government is leading the way in organ donation. We are hopeful that their new law will bring about awareness and a rise in transplantation rates across the UK, as there will be more organs available for donation.

Currently, one in three people on the transplant list for lungs, dies waiting. Our Hope for More campaign highlighted ways that this situation could be addressed, including a national lung allocation system and expanded use of extended criteria lungs. 

We are continuing to work with organisations that can take this crucial work forward, including transplant teams, cystic fibrosis services, legislative bodies across the UK and the NHS Blood and Transplant Group.

In 2015 the soft opt-out system will become law, and we hope that this will pave the way for the other UK nations. Before then, we must use this opportunity to tell the people we care about most what we believe. As the campaign says, it’s ‘Time to Talk Organ Donation’.

To find out more about the Soft Opt Out, please click here http://www.organdonationwales.org/.