Cystic Fibrosis

Cystic Fibrosis

  • 18th National Cystic Fibrosis Clinical Meeting

    The 18th National Cystic Fibrosis Clinical Meeting took place in Killarney, Co. Kerry on the 1st and 2nd February 2018.

    Over the course of the two day meeting, leading CF clinicians and researchers from around the world outlined their work to address a particular issue in CF care. Topics discussed included: the treatment of aspergillus fumigatus infections and advances in fertility care in CF. An update was also provided on the progress of the National Clinical Programme which has set up six sub-groups each dealing with a different area of CF care including post-transplant care and CF and Fertility.

  • Report Shows Major Improvements in the Lives of  People with Cystic Fibrosis over 20 Years – But Much More to Do

    Date of issue: Wednesday, April 4 2018

    A new and ground-breaking report on ‘Independent Living’from Cystic Fibrosis Ireland (CFI) highlights major improvements in the quality and the length of lives of people with cystic fibrosis (CF) over two decades (1998-2017). The report shows that the sustained investment in better CF services and medications in recent years has made a very significant difference to those with CF in Ireland- but there is also much more that can and should be done. 

    At the core of the Report ‘Independent Living and Cystic Fibrosis’ are two surveys undertaken by CFI in 1998 and 2017. Around one quarter of the adult CF population participated both surveys. Corroborative data was also drawn from other sources such as the CF Registry of Ireland. 

    Amongst the key points noted in the report are:

    o   In 1998 adults with CF were not expected to be in any employment. In 2017, a remarkable 54% of those surveyed were in full-time or part-time work. 

    o   In 1998, 74% of respondents lived with their parents in their parents’ house. By 2017 this figure had reduced to 43%. 

    o   In 1998 adults with CF were not expected to have children of their own. In 2017 (thanks to better health and the introduction of IVF) 26% of the adult CF population aged 21 or over surveyed had children

    o   In 1998 only 8% of those surveyed were married, compared with 26% in 2017

    o   The percentage of those obtaining third-level qualifications has increased from 38% in 1998 to 49% in 2017

    o   The median age of death in Ireland was only 17 years of age in 1998. By 2015 this had increased to 30 years for the first time.  


    Philip Watt CEO of CFI stated:

    “The findings are in many ways remarkable and send out a strong message of hope. The main message is that adults with CF are living much more fulfilled and independent lives in 2017 compared with 1998. They are much more likely to have a job, have better education attainment, to have their own home and to even have a family of their own.

    “The improvements in length and quality of life are closely linked to improvement in services such as dedicated CF hospital centres which we have fought for; improved rates of double lung transplantation and more recently access to new ground-breaking drugs such as Kalydeco and Orkambi. The report shows that with sustained investment over a number of years people with a chronic and fatal disease such as CF can lead longer and better lives.” 

    “However key gaps remain. The Government promised a dedicated CF in patient unit in Beaumont Hospital commencing in 2017. There has been no progress on this commitment in the Programme for Government and understaffing in major CF centres remains an issue.” 

    The ‘Independent Living and Cystic Fibrosis’ Report covers a number of key issues:

    Relationships and Housing
    In 1998, 74% of respondents lived with their parents in their parents’ house. By 2017 this figure had reduced to 43%. 

    In 1998, 87% of adults surveyed were ‘single’ compared with 39% in 2017. 

    In 1998 adults with CF were not expected to have children of their own. In 2017 thanks to better health and access to IVF, 26% of the adult CF population aged 21 or over have children. 

    Employment 
    In 1998 adults with CF were not expected to be in employment because life expectancy was much shorter. However, by 2017, a remarkable 54% of those surveyed were in full-time or part-time work. These jobs range from journalism to the caring professions, from IT to accountancy. 

    However, major challenges remain. 14% of all respondents in the 2017 survey remain  ‘too ill to work’. Many others said the potential loss of a medical card or sudden loss of Disability Allowance when entering a job remains a major deterrent to employment and independent living as their health comes first. 

    There is also evidence of improved understanding by employers about the potential contribution of people with CF in the workplace. In 2017, 92% of people with CF surveyed were prepared to let their employer know they had CF compared with only 44% in 1998. However, the report also shows those in lower paid employment can still be treated callously by employers. 

    Education and Mobility:
    In 2017, people with CF are still missing out on school and college because of their illness. However, the percentage of those obtaining third-level qualifications has increased from 38% in 1998 to 49% in 2017. 

    In 1998, 82% of those surveyed were reliant on public transport. By 2017 only 19% of journeys made by people with CF were on public transport. This reflects a much greater access to/ownership of cars and an increased wariness of the risk of infections in confined places, such as buses. 

    Foreign travel:
    For leisure is increasingly the norm for people with CF, through travel insurance can be difficult to access at times.

    Starting a family: 
    The report shows that almost all men with CF and some women with CF will need IVF treatment to commence a family.  However, there are presently no state supports for the needed IVF treatment that costs about €5-6,000 a time.

    The publication of the report comes ahead of the national fundraising day for Cystic Fibrosis Ireland, 65 Roses Day, on Friday 13th April. With funds raised helping people with cystic fibrosis to live independently in Ireland, the public is being urged to lend its support by buying a purple rose for €2 or donating online at 65rosesday.ie.

    To download a copy of the "Independent Living and Cystic Fibrosis" Report, click on the image below.

    Methodology

    o   In 1998, 25% of the CF adult population in Ireland participated in the survey (n.83)

    o   In 2017, 22% of the CF adult population in Ireland participated in the survey (n.145)

    o   The 2017 survey was commenced in November 2016 and concluded in January 2017 

    o   The survey respondents were drawn from all parts of the Republic of Ireland and their profile is consistent with the known CF demographic profile for those with CF

    o   The survey data was authenticated by a former senior statistician in the CSO and by CFI staff

    o   21 of those surveyed in 2017 were post-transplant – there would have be no-one post-transplant in 1998

  • CFI Statement in relation to Cystic Fibrosis and Pat Kenny Show

    Cystic Fibrosis Ireland urges the Pat Kenny Show to clarify that the reason why Ireland has the highest rate of cystic fibrosis (CF) in the world is because we have the highest incidence of people carrying the CF altered gene in the world and not for the reason stated on last night’s programme (Wednesday, October 4th).

    CF is an inherited genetic condition that requires both parents to carry the gene. If both parents are carriers, they have a one in four chance of conceiving a child with CF.  

    Approximately 1 in 19 Irish people carry the CF altered gene.  This compares with 1 in 25 in the U.K.

    The Pat Kenny Show has been a very important programme for highlighting the challenges for people with cystic fibrosis, services that needed to be improved and more recently access to drugs in Ireland. We thank Pat for this role over many years - he is a true friend of CF.  However, the comment made on last night's programme has caused significant concern in the CF community - we know that no offence was intended by Pat, but his comment should be clarified by the programme.

    It should be further noted that people with cystic fibrosis are living increasingly longer and fuller lives thanks to better services and new drugs such as Orkambi and Kalydeco and the fantastic support of the Irish public. This should provide a lot of reassurance to parents who have recently been told their child has CF.

    Philip Watt
    CEO
    Cystic Fibrosis Ireland

  • Cystic Fibrosis Ireland Vows to Fight Decision of HSE to Turn Down Ground-breaking CF Drug Orkambi: Calls for Minister Harris to Intervene

    27th November 2016

    Cystic Fibrosis Ireland Vows to Fight Decision of HSE to Turn Down Ground-breaking CF Drug Orkambi: Calls for Minister Harris to Intervene

    Philip Watt, CEO, Cystic Fibrosis Ireland, comments:

    'Cystic Fibrosis Ireland, Ireland's national charity supporting people with cystic fibrosis (CF), has today expressed its dismay and its opposition to the news - leaked to a Sunday newspaper - that the Health Service Executive will not fund Orkambi, the ground-breaking drug for CF.'

    'We will fight this decision and we call on the Minister for Health, Simon Harris TD, to use his Ministerial powers to intervene to ensure that Orkambi is made available in Ireland for the 550 patients who stand to benefit from this life-lengthening drug.'

    'With around 1,200 people with cystic fibrosis here in Ireland, we have the highest rate of the disease per head of population in the world. We also have some of the most severe forms of cystic fibrosis.'

    'It is rare that a therapy comes along that has been shown to reduce hospitalisations by up to 40 per cent and further it significantly retards the progression of cystic fibrosis for those who stand to benefit from this drug. This drug would have resulted in other major savings to the HSE from both reduced hospitalisation and less reliance on other expensive CF drugs and reduced dependency on transplants.'

    'The long-term benefits of Orkambi have been confirmed by Professor Stuart Elborn, formerly of the City Hospital Belfast and now the lead CF clinician in the Brompton Hospital London. The data confirming the impact of Orkambi was presented at the North American CF Conference in October 2016.'

    'Cystic Fibrosis Ireland is angry at the cynical way the HSE has conveyed this information to our patients, some of whom are very ill. The decision was leaked to a Sunday newspaper even before the Minister was informed, never mind patients. It’s a disgraceful and heartless form of communication.'

    ENDS

    For further information: Philip Watt, CEO, Cystic Fibrosis Ireland, is available on 087 637 0557

     


    Letter Received from Minister for Health Simon Harris on November 27th 2016

    Dear Philip,

    I wanted to write to you today on foot of the article in the Sunday Business Post regarding the drug, Orkambi.

    I am extremely eager that your members, patients with CF and their families are kept fully informed of the process which the HSE has been engaged in with the drugs company, Vertex. I am both annoyed and upset that details seemed to leak regarding these discussions today and I understand the HSE has issued a statement to clarify the position.

    Firstly, let me state that I have not yet received a decision from the HSE Directorate regarding Orkambi. The HSE is responsible for the assessment of new medicines, as you know, which is a statutory process.

    Secondly, following the recommendation of the NCPE, the HSE has been engaged in negotiations with Vertex to try and find a way forward. I am frustrated that this seems to have been extraordinarily difficult. I understand that the HSE has engaged extensively with the company and has sought a significant price reduction.  I fully support the HSE in its attempts to lower the exorbitant price the company is seeking to charge for Orkambi for Irish patients.  It takes two sides to negotiate and Vertex clearly has a critical role in this regard.

    Thirdly, as you are aware, the assessment process is a statutory process. The Oireachtas, in legislating for this process in 2013, gave full responsibility to the HSE.  My Department can only consider requests for funding requirement for a new drug if the HSE decides to reimburse the drug but does not have the resources to fund the medicine. 

    Fourthly, whilst, again, the HSE has not concluded their assessment process, I want to assure CF patients and their families that I do not see this as the end of the process. I want everyone to work to try and find a way forward but let me be clear, this will require Vertex to further engage on a meaningful and innovative basis and to significantly reduce their price.

    Orkambi has not yet been approved for reimbursement by any public health service in Europe. Whilst the drug is available in Germany and France, it is through a very different process. Ireland, the UK, Canada and Australia all find themselves trying to negotiate without success so far. Clearly the time has come for a different approach from Vertex. I now intend to write to fellow Health Ministers in these countries engaged with Vertex on this matter to seek an understanding of their experience and perspective in addressing this.

    I can only imagine how stressful  a time this must be for many families and that is why I want to assure them that we will not leave any stone unturned on this matter – but equally Vertex need to do likewise. In the meantime it is important to remember and to remind CF patients that Vertex have confirmed (as stated on the NCPE website) that patients currently receiving Orkambi under the Managed Access Scheme will continue to receive the drug until reimbursement is finalised in Ireland.

    Philip I will keep you updated and please do keep in touch,

    Best wishes.

    Yours sincerely,

    Simon

    Simon Harris TD

    Minister for Health


    Letter written by CFI CEO, Philip Watt to Minister for Health Simon Harris on November 27th 2016

    Thank you Minister 

    On behalf of CFI I acknowledge your letter and phone call and we will be responding to the points you raise more comprehensively when I have had a chance to discuss them with our association. From the responses I have heard this morning I know that many families are devastated by the news to refuse funding of the ground breaking drug Orkambi. 

    We take this opportunity to ask for a meeting with you as soon as possible to appeal this decision and to explore if there are grounds in your letter  that this is not the the end of the process. The HSE have been very disrespectful in the way that this has been conveyed to our patients through an apparently cynical leak to a Sunday newspaper at a very late hour and we have had scores of phone calls, texts and messages this morning from very upset parents and people with CF who share our sense of anger. I would request that immediate action is taken on this heartless method of communicating potentially life altering information to patients in this country, some of whom are extremely ill. We ask again that you use your powers as Minister to expedite the reimbursement of Orkambi as soon as possible as we know you have the powers to do so. 

    Yours Sincerely,

    Philip Watt

    CEO 

    Cystic Fibrosis Ireland

  • Fight To Breathe

    Cystic Fibrosis Ireland are delighted to have announce details of our awareness campaign "Fight to Breathe". Following competition, Cystic Fibrosis Ireland was selected for an awareness initiative that will be shown in cinemas throughout Ireland.

    "Fight to Breathe" is a 60-second cinema feature advertisement that graphically illustrates how life for a person with cystic fibrosis is exactly that  ̶  a constant fight to breathe  ̶  and invites audiences to experience that fight for themselves. It features Edelle Collins, from Castleknock, who has cystic fibrosis. The campaign ran in 73 cinemas nationwide for six weeks from October 20th 2017.   ‘Fight to Breathe’ is produced by Wide Eye Media and is funded by the Institute of Advertising Practitioners in Ireland (IAPI). CFI wishes to say many thanks to IAPI and to Wide Eye Media and to all in CFI who have been involved in the consultation around this initiative.

    As part of the campaign, cinema-goers had the opportunity to support the work of Cystic Fibrosis Ireland by texting "Fight CF" to 50300 to donate €4* to Cystic Fibrosis Ireland or by donating online at www.cfireland.ie. [*Text costs €4. Cystic Fibrosis Ireland will receive a minimum of €3.25. Service Provider: LIKECHARITY. Helpline: 076 6805278.]

    The campaign is the creation of Conor Hamill and Laura Cahill from ad agency Rothco, winners of the Irish Film Young Lions competition, whose prize was to see their creative concept for Cystic Fibrosis Ireland go from script to screen. The duo also represented Ireland at the Cannes Lions International Festival of Creativity, a global gathering of the media and advertising industry. "Fight to Breathe" is the culmination of an exciting partnership between the Institute of Advertising Practitioners in Ireland, RTÉ, Wide Eye Media, Rothco and the Pull the Trigger production company. 

    Watch the ad below.

    The advert and an exclusive behind the scenes video of how the Cinema Advert was made was shown on RTÉ One and RTÉ 2 on Thursday October 19th.

    The approach of the awareness initiative is to ‘not gloss over the reality of CF’ but also to be positive and forward looking as the title suggests. The initiative is part of the ‘Young Lions’ programme that provides an opportunity to young professionals, under the age of 30 to make a short film – almost akin to an advert.

    Take a look behind the scenes to see how the concept for the #FightToBreathe Campaign developed from script to Screen.

    For people with CF or parents who have a very sensitive disposition, you may want to check with the cinema in advance if you are planning to see a film in November or to wait outside until the adverts are over. The advertisement will not be shown at G or PG films.

  • Further promising news from Vertex for those with F508del and one minimal function gene alteration.

     24 July 2017

    Further promising news from Vertex for those with F508del and one minimal function gene alteration.

    This news release covers the VX-152; VX-440 and the VX659 therapies presently undergoing clinical trials. These show very exciting outcomes for those with F508del and one minimal function gene alteration. Note: they still have to complete further phases of research before they go for approval to the European Medicines Agency (EMA) - likely timeframe for approval, if all continues to go well, is 2018/2019

    The results were from two phase 2, or midstage, clinical trials, and one phase 1 study evaluating three different triple-combination regimens. The studies tested three different experimental drugs, each on top of a regimen of two other drugs, called tezacaftor and ivacaftor.

    The primary goal of the study was improvement in FEV1, ‘forced expiratory volume’: This measures how much air someone can expel in one second.

    In the two phase 2 studies, one drug, called VX-152, showed a very exciting 9.7 percentage point average improvement in that measure, on top of the two-drug cocktail. Another, called VX-440, showed an even better 12 percentage point average improvement. A third, VX-659, in a phase 1 study, improved FEV1 by an average of 9.6 percentage points, also very encouraging.

    The next step is for Vertex to decide which regimen(s) to move into a late-stage clinical trial, expected to begin in the first half of 2018.

    ‘The results are a further important step for the treatment of cystic fibrosis but still at a relatively early stage’ said Philip Watt, CEO of CFI.

    Background Note:
    Vertex was the first company to develop a drug therapy targeting the root genetic cause of the disease; called Kalydeco, the treatment was approved by the Irish Government in 2013 and targets gene alterations accounting for about 4,500 cases of CF worldwide and 120 in Ireland. Ireland has the highest percentage of patients who benefitted from Kalydeco in the world. Around 11% of the CF population in Ireland have the G551D gene alteration and in the south west region, this rises to 25% of the total CF population. Kalydeco was expanded to 2-5 year olds and the R 117h gene alteration group as part of the April 2017 agreement in Ireland.  

    The company received approval for its second CF treatment, Orkambi, in Ireland in April 2017. A combination of Kalydeco (whose chemical name is ivacaftor and another drug, lumacaftor, potentially impacts on 25,000 patients worldwide and 550 patients in Ireland.

     

    ‘Minimal function alterations’ are gene changes that leave the CFTR protein minimally functional or unable to function at all.

  • When Every Day is a Fight to Breathe


    - Boxing Legend Walks the Purple Carpet at 'premiere' of new "Fight to Breathe" awareness campaign for Cystic Fibrosis Ireland -

     

    Date of issue: October 19, 2017        

    Boxing legend Michael Carruth was today firmly in Cystic Fibrosis Ireland's corner at Dublin's Irish Film Institute for the launch of a new awareness campaign to heighten understanding of life with cystic fibrosis.

    "Fight to Breathe" is a new 60-second cinema feature advertisement that graphically illustrates how life for a person with cystic fibrosis is exactly that  ̶  a constant fight to breathe  ̶  and invites audiences to experience that fight for themselves. It features Edelle Collins, from Castleknock, who has cystic fibrosis. The campaign is set to run in 73 cinemas nationwide for six weeks from October 20 and is being shown free of charge thanks to the generosity of Wide Eye Media. The feature advertisement can be viewed online at www.cfireland.ie

    As part of the campaign, cinema-goers will have the opportunity to support the work of Cystic Fibrosis Ireland by texting "FightCF" to 50300 to donate €4* to Cystic Fibrosis Ireland or by donating online at www.cfireland.ie. [*Text costs €4. Cystic Fibrosis Ireland will receive a minimum of €3.25. Service Provider: LIKECHARITY. Helpline: 076 6805278.]

    The campaign is the creation of Conor Hamill and Laura Cahill from ad agency Rothco, winners of the Irish Film Young Lions competition, whose prize was to see their creative concept for Cystic Fibrosis Ireland go from script to screen. The duo also represented Ireland at the Cannes Lions International Festival of Creativity, a global gathering of the media and advertising industry. "Fight to Breathe" is the culmination of an exciting partnership between the Institute of Advertising Practitioners in Ireland, RTÉ, Wide Eye Media, Rothco and the Pull the Trigger production company.

    Coming out Fighting for Cystic Fibrosis

    Boxing legend Michael Carruth, is hoping the campaign will deliver a "knock-out blow" for Cystic Fibrosis Ireland:

    "For me, jumping into a ring and fighting for survival was a choice. The sad reality is that for people with cystic fibrosis there is no choice. Life is a constant battle for survival. That's why I'm delighted to lend my support to this campaign which brings home in dramatic fashion the heart-breaking reality of how challenging life for people with cystic fibrosis is. The campaign asks us to step into their shoes and, in just 60 seconds, we soon realise how the normal breathing we perhaps take for granted, is anything but normal for a person with cystic fibrosis as they struggle to deal with mucus, coughing, and shortness of breath. We have got to continue fighting the good fight when it comes to cystic fibrosis."

    Philip Watt, Chief Executive, Cystic Fibrosis Ireland, says this campaign highlights the fighting spirit of people with cystic fibrosis:

    "The average person takes a breath 16 times a minute but it's something that for most of us we scarcely notice. It just happens. However, a person with cystic fibrosis often has to fight to breathe. That's their daily reality. And it doesn't just naturally happen. It often involves up to four hours every day of chest physio, inhalers, nebulisers and medications, just to make things bearable. This advertisement makes life with cystic fibrosis very real and personal, and brings home to people in a very simple, yet compelling way, how difficult it can be. People with cystic fibrosis are well-known for their fighting spirit. They don't give up and we owe it to them to offer support in every way that we can."

    Tapping into the Cinema Audience Experience

    For Tania Banotti, Chief Executive, Institute of Advertising Practitioners in Ireland, the campaign has two big winners - the creative talent behind it and the worthy cause of cystic fibrosis:

     “We believe it is important to nurture young creative talent. The goal was to give two young people the experience of seeing an idea for a TV commercial go from script to execution. The second goal was to support a charity, this year that charity is Cystic Fibrosis Ireland. Conor and Laura’s creation aims to change the audience’s perception of what it is like to have Cystic Fibrosis.”

    Eoin Wrixon, Chief Executive, Wide Eye Media, believes the campaign really taps into the cinema audience experience in highlighting the challenges of cystic fibrosis:

    "Wide Eye Media is very proud to support Cystic Fibrosis Ireland through our sponsorship of the Cannes Young Lions competition. Conor Hamill and Laura Cahill, together with Pull the Trigger, have produced a stand-out ad which uses the cinema medium to great effect. We look forward to seeing how the cinema campaign raises awareness of, and funds for, Cystic Fibrosis Ireland."

    ENDS

     

    Issued by: Nuala McAuley, Cystic Fibrosis Ireland, tel.: 01 4962433 or email This email address is being protected from spambots. You need JavaScript enabled to view it.

     

    Follow on Facebook, Twitterand Instagram. The campaign hashtag is #fighttobreathe

     
    What is cystic fibrosis (CF)?
    CF is Ireland’s most common life-threatening inherited disease. CF is a genetic disorder. It is not contagious, rather people are born with it.Approximately 1 in 19 people are carriers of the CF gene and when two carriers have a child there is a one in four chance of a child being born with it. CF affects the regulation of absorption and secretion of salt and water in various parts of the body including the lungs, sweat glands, pancreas, and gastrointestinal tracts. This defect inhibits the flow of salt and water through the body’s cells, causing a build-up of thick, sticky mucus, which can clog airways and harbour harmful bacteria. Symptoms reported by people with CF vary significantly in severity from mild to debilitating. The most common symptom is recurrent chest infection, which results in lung damage, with the majority of deaths occurring through respiratory failure. There is a high prevalence of CF in Europe, with the highest prevalence in Ireland, which is almost three times the average rate in other EU countries and the United States.
     
    About Cystic Fibrosis Ireland
    Cystic Fibrosis Ireland, established by parents in 1963, is a leading national organisation dedicated to improving the quality of life of people with CF and their families across Ireland. It does this through providing information and education, advice and advocacy to people and their families, offering grant assistance, undertaking research, funding state-of-the-art dedicated CF health facilities and CF clinical staff, and advancing the development of lung transplantation in Ireland. Cystic Fibrosis Ireland comprises 19 branches and one regional branch and is overseen by a national executive committee, which includes representation from people with CF and their families. For more, visit www.cfireland.ie. 
  • Publication of the Orkambi Clinical Trial Data 

    On 17th of May 2015, the The New England Journal of Medicine (NEJM) published results on a new treatment combining ivacaftor (Kalydeco) with another compound called lumacaftor. This combination is now known as Orkambi and it targets the underlying cause of the CF in people with two copies of the F508del mutation, which represents 56.5% (654) people with CF in Ireland1.

    Orkambi clinical trial data

    Published results show a significant increase in FEV1 in patients of between 2.6 - 4% (p<0.001). Further analysis also revealed that the rate of pulmonary exacerbations was 30 to 39% lower in patients who were in receipt of the combination therapy compared to those who received placebo. The rate of events leading to hospitalisation or the use of intravenous antibiotics was also reduced for people being treated with the combination therapy.

    The publication of the study comes on the heels of a recommendation last week from an advisory committee of the U.S. Food and Drug Administration (FDA) that the FDA approve the drug for people with CF ages 12 and older with two copies of F508del. While the committee’s recommendation is an important part of the FDA’s review process, the decision is not binding. The FDA has said it will make its final decision by July 5, 2015.

    The drug is currently being considered for licencing by the European Medicines Agency, with a decision expected in the autumn. If there is a positive decision from the EMA then individual countries have to consider reimbursement of the drug, should it be approved by the EMA.

    CFI will continue to keep our members updated on the progress of this and other potential therapies developed for use in CF care.

    You can listen to This email address is being protected from spambots. You need JavaScript enabled to view it., Research and Development Officer from CFI, speak about these results on RTE Radio 1 news.

    1Cystic Fibrosis Registry of Ireland (2013) Annual Report

  • Rare Disease Day 2019

    To mark the 12th annual World Rare Disease Day, Rare Diseases Ireland, on behalf of the Rare Disease Day 2019 Organising Committee, are holding a National Conference for Patients & Families “Bridging Health & Social Care”. Taking place on in CA House, Pearse Street, Dublin 2, the conference will highlight the importance of joined-up hospital, primary care and community services for people with rare diseases.

    Among the topics under discussion will be:

    • patient experiences of health and social care services
    • best practices in delivering co-ordinated services to patients
    • the current state of rare disease plans North and South.

    Rare diseases can be chronically-debilitating, progressive and life-threatening, and so the conference will hear directly from patients and patient organisations facing the challenges of living with, and caring for, people with rare diseases on a daily basis. There will also be contributions from speakers responsible for public policy and integrated care in the area.

    What Europe Can Do for You
    Avril Daly, Vice-President of EURORDIS-Rare Diseases Europe, is urging people living with rare diseases who want to find out more about diagnosis and treatments, to ask their doctor about newly-developed European Reference Networks:
    “People living with rare diseases and their families can often feel isolated and alone. They may have been searching for a diagnosis for years. They may have been passed from pillar to post, and subject to a battery of tests and investigations. They may even have been misdiagnosed. All the while they continue to live with the impact of the disease, disrupting their quality of life and leaving them worried and frustrated.

    “However, the recent development of European Reference Networks, or ERNs, is a game-changer for people with rare diseases. For the first time, doctors in Ireland will be able to convene a virtual panel of medical experts from across the EU who can review medical information and test results, agree on a diagnosis, suggest treatments and advise on clinical trials taking place. I would strongly encourage patients who continue to seek a diagnosis for a condition they have, or who want to know more about treatments or clinical trials relevant to them, to ask their doctor about ERNs and if they are eligible. While many ERNs are not integrated into the Irish healthcare system yet, we expect that this will change over the coming year. No longer will your medical team be confined to these shores. Your doctor will soon be able to access expertise across Europe.”

    Vicky McGrath, CEO of Rare Diseases Ireland, believes the conference will offer important insights in informing the development of a new national rare disease plan:
    “Ireland’s first national rare disease plan was for a period of five years and concluded on December 31 last without a new plan to take its place. The focus of this year’s conference is on bridging health and social care and addressing the gaps between medical, social and support services. This conference offers a unique opportunity to inform Government and policy-makers of the importance of better connecting and co-ordinating our health and social care services for people with rare diseases and their families. The burden of rare diseases is enormous, and relatively simple steps like co-ordinating care and social services will go some way to help lighten this load.”

    Rare Diseases – did you know:

    1. A rare disease is defined as rare when it affects fewer than one in 2,000 people. Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient with the same disease.
    2. It is estimated that rare diseases affect the lives of around 30 million people across the European Union (EU), with approximately 300,000 people in Ireland developing a rare disease at some point in their lives. Relatively common symptoms can hide underlying rare diseases, leaving many affected individuals as either undiagnosed or misdiagnosed.
    3. There are more than 6,000 known rare diseases. 80% of rare diseases have identified genetic origins whilst others are the result of bacterial or viral infections, allergies and environmental causes, or are degenerative and proliferative.
    4. Approximately five per cent of rare diseases have treatments, and often the best and only treatment option is to access a clinical trial. There is no cure for the majority of rare diseases.

    According to the first ever Europe-wide survey on juggling care and daily life with a rare disease conducted by EURORDIS-Rare Diseases Europe via its Rare Barometer Voices platform (May 2017)1, 8 in 10 patients and carers have difficulties completing daily tasks (household chores, preparing meals, shopping etc.). A total of 30% of carers spend more than six hours per day helping the person with a rare disease. Over 95% of primary carers are family members with the overwhelming majority being women. Seven in ten patients and carers had to reduce or stop their professional activity due to their, or their family member’s, rare disease. There is a significant mental health burden with people with rare diseases and their carers being three times more likely to feel unhappy and depressed compared to the general population. 

    For more information on the work of Rare Diseases Ireland visit www.rdi.ie 

    ENDS

    About Rare Diseases Ireland

    Rare Diseases Ireland (RDI) is a patient advocacy national alliance for voluntary groups representing people affected by, or at risk of, developing a rare disease. RDI is committed to the identification, treatment, and cure of rare disease through programmes of education, advocacy and patient services. For more information, visit www.rdi.ie

    About the Rare Disease Day 2019 Organising Committee
    The organising committee for Rare Disease Day 2019 is an all-island collaboration between patient organisations North and South of the border, whose members represent: Rare Diseases Ireland, the Medical Research Charities Group, the Irish Platform for Patient Organisations, Science & Industry, Fighting Blindness, Cystic Fibrosis Ireland, MSD Action Foundation, and the Northern Ireland Rare Disease Partnership.

    About Rare Disease Day
    Rare Disease Day takes place on the last day of February each year and aims to raise awareness of rare diseases and their impact on people’s lives among the general public and decision-makers. It was first launched by EURORDIS-Rare Diseases Europe and its Council of National Alliances in 2008. Rare Disease Day has taken place every year since, with events being held in more than 90 countries. For more information, visit www.rarediseaseday.org

    Reference
    1 “Juggling care and daily life – the balancing act of the rare disease community”, A Rare Barometer survey. http://download2.eurordis.org.s3.amazonaws.com/rbv/2017_05_09_Social%20survey%20leaflet%20final.pdf

     

     

  • Statement from The Pat Kenny Show

    Cystic Fibrosis Ireland received the following statement from The Pat Kenny Show in relation to comments made on the programme on Wednesday, October 4th.

    Pat Kenny and his team at TV3, would like to  apologise for any offence or any upset caused to people with cystic fibrosis and their families by comments made on last night’s show.

    Any offence or upset caused was completely unintentional.

    We agree with the statement by Cystic Fibrosis Ireland today that the reason why Ireland has the highest rate of cystic fibrosis is because we have the highest incidence of people carrying the cystic fibrosis altered gene in the world.

    As acknowledged by Cystic Fibrosis Ireland, Pat Kenny is a sincere supporter of the CF community. Pat Kenny has highlighted the cause of cystic fibrosis sufferers for many years and will continue to do so.


    Read Cystic Fibrosis Ireland's original statement here.

  • Survey on Mental Health, Well-being and Quality of Life in Adults with CF


    If you have Cystic Fibrosis, and are over 18 years of age, we would like to invite you to take part in a study about mental health, well-being and quality of life in adults with Cystic Fibrosis.

    writing letter

    This study is being conducted by researchers from University College Cork, and is funded by Cystic Fibrosis Ireland and the Health Research Board. We know very little about the well-being of individuals with CF in Ireland, but by doing this research we hope to bring attention to this issue and hope it may contribute to improvements to services in the future.

    We would encourage you to take part in this valuable study. All information you provide will remain strictly confidential, however, there is one exception to this. If you indicate on your questionnaire you are experiencing symptoms of depression or anxiety, we are obliged to inform your CF consultant so that you can be followed up with the appropriate support.

    If you would like more information on the study, please read this information sheet or contact Jennifer Cronly This email address is being protected from spambots. You need JavaScript enabled to view it..

    The questionnaire takes approximately 15-20 minutes to complete. We would be grateful if you could complete the questionnaire by Tuesday 12th May.

    Take the Survey Now!

  • Symkevi likely to be available in Ireland in early 2019 

    As predicted in the Autumn issue of Spectrum, the European Medicines Agency have now fully approved the third CFTR drug from Vertex called 'Symkevi'. 

    Those that stand to benefit from this new drug are the same group of patients that benefit from Orkambi (double Delta F508). It is likely that a protocol for deciding which patients will remain on Orkambi and which may switch to Symkevi will be developed.  

    The PR Company for Vertex Pharmaceuticals have informed Cystic Fibrosis Ireland of additional updates, as below:

    • The European Commission has granted Marketing Authorization for SYMKEVI® (tezacaftor/ivacaftor), a new treatment option for patients with two copies of the F508del mutation, the most common mutation in cystic fibrosis.
    • SYMKEVI® is the first medicine in the EU to treat the CFTR protein defect in patients who have one copy of the F508del mutation and one copy of one of 14 mutations that result in residual CFTR activity
    • The agreement that Vertex agreed in 2017 with the HSE included facilitates an expedited review of our reimbursement application for certain treatments and extensions to age cohorts to specific CF mutations, subject to market authorisation by the European Commission.
    • Accordingly, Vertex will work closely with the HSE and relevant officials to secure timely access for these patients, and we hope it will be made available shortly

    As part of the pipe-line/portfolio deal agreed between the HSE and Vertex, CFI predicts that Symkevi will be available in Ireland in early 2019.

    We will keep you updated.


    Statement from Vertex

    Vertex Announces European Authorization for Third Cystic Fibrosis Medicine SYMKEVI® (tezacaftor/ivacaftor), to be used in combination with ivacaftor (KALYDECO®), for People with CF Aged 12 and Older with Certain Mutations in the CFTR gene

    - A new treatment option for patients with two copies of the F508del mutation, the most common mutation in cystic fibrosis -

    - First medicine in the EU to treat the CFTR protein defect in patients who have one copy of the F508del mutation and one copy of one of 14 mutations that result in residual CFTR activity -

    LONDON--(BUSINESS WIRE)--Nov. 1, 2018-- Vertex Pharmaceuticals (Europe) Limited, today announced that the European Commission has granted Marketing Authorization for SYMKEVI® (tezacaftor/ivacaftor) in a combination regimen with ivacaftor (KALYDECO®) for the treatment of people with cystic fibrosis (CF) aged 12 and older who either have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, or one copy of the F508del mutation and a copy of one of the following 14 mutations in which the CFTR protein shows residual activity: P67L, R117C, L206W, R352Q, A455E, D579G, 711+3A→G, S945L, S977F, R1070W, D1152H, 2789+5G→A, 3272-26A→G, and 3849+10kbC→T. In addition, the European Medicines Agency’s Committee for Orphan Medicinal Products recently recommended the maintenance of orphan designation for tezacaftor/ivacaftor in combination with ivacaftor.

    “The authorization of tezacaftor/ivacaftor in combination with ivacaftor is welcome news for European CF patients, their families and everyone involved in their treatment and care. This new medicine is especially important for patients with residual function mutations and those who do not tolerate ORKAMBI® (lumacaftor/ivacaftor),” said Harry Heijerman, Professor and Head of Department of Pulmonology at University Medical Centre Utrecht, The Netherlands.

    The EU Marketing Authorization was based on results from two pivotal Phase 3 studies, EVOLVE and EXPAND, published in the New England Journal of Medicine in November 2017. Results showed treatment with tezacaftor/ivacaftor in combination with ivacaftor provides benefits across different CF populations, including statistically significant improvements in lung function, as determined by absolute change from baseline in percent predicted forced expiratory volume in one second (ppFEV1); with a generally well tolerated safety profile and a lack of increased respiratory adverse events compared to placebo. The improvements in lung function showed a mean absolute change in ppFEV1 compared to placebo of 4.0 percentage points (P<0.0001) and 6.8 percentage points (P<0.0001) in EVOLVE and EXPAND respectively. The most common adverse reactions experienced by patients who received tezacaftor/ivacaftor in combination with ivacaftor in pooled, placebo-controlled Phase 3 studies were headache and nasopharyngitis.

    “Today marks an important milestone for many CF patients in Europe, including those who so far have had no available option to treat the CFTR protein defect responsible for their disease,” said Reshma Kewalramani, MD, Executive Vice President, Global Medicines Development and Medical Affairs and Chief Medical Officer at Vertex. “With today’s Marketing Authorization, we are rapidly moving towards treating 90 percent of CF patients.”

    Tezacaftor/ivacaftor in combination with ivacaftor was approved by the U.S. Food and Drug Administration (FDA) in February 2018 and by Health Canada in June 2018. It is marketed as SYMDEKO™ in the U.S. and Canada.

    About CF
    Cystic fibrosis is a rare, life-shortening genetic disease affecting approximately 75,000 people in North America, Europe and Australia.

    CF is caused by a defective or missing CFTR protein resulting from mutations in the CFTR gene. Children must inherit two defective CFTR genes — one from each parent — to have CF. There are approximately 2,000 known mutations in the CFTR gene. Some of these mutations, which can be determined by a genetic test, or genotyping test, lead to CF by creating non-working or too few CFTR proteins at the cell surface. The defective function or absence of CFTR protein results in poor flow of salt and water into and out of the cell in a number of organs. In the lungs, this leads to the build-up of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the mid-to-late 20s.

    About tezacaftor/ivacaftor and ivacaftor
    Some mutations result in CFTR protein that is not processed or folded normally within the cell, and that generally does not reach the cell surface. Tezacaftor is designed to address the trafficking and processing defect of the CFTR protein to enable it to reach the cell surface where ivacaftor can increase the amount of time the protein stays open.

    For complete product information, please see the Summary of Product Characteristics that can be found on www.ema.europa.eu once posted.

    About EVOLVE and EXPAND
    Data from the two Phase 3 studies EVOLVE and EXPAND were published in the New England Journal of Medicine in November 2017, the studies enrolled approximately 750 people with CF ages 12 and older with two copies of the F508del mutation or with one F508del mutation and a second mutation associated with residual CFTR activity. Across both studies, patients treated with tezacaftor/ivacaftor in combination with ivacaftor experienced statistically significant improvements in lung function, as determined by absolute change from baseline in ppFEV1. The treatment was generally well tolerated; the most common adverse reactions (≥10%) experienced by patients who received tezacaftor/ivacaftor with ivacaftor in the pooled, placebo-controlled Phase 3 studies were headache (14% versus 12% on placebo) and nasopharyngitis (12% versus 10% on placebo).

    About orphan designation for medicines
    Orphan designation is granted by the European Medicines Agency’s Committee for Orphan Medicinal Products to treatments which either address an existing unmet need or can provide significant benefit for people with life-threatening or chronically debilitating diseases, affecting a small number of patients.

    About Vertex
    Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious and life-threatening diseases. In addition to clinical development programs in CF, Vertex has more than a dozen ongoing research programs focused on the underlying mechanisms of other serious diseases.

    Founded in 1989 in Cambridge, Mass., Vertex's headquarters is now located in Boston's Innovation District. Today, the company has research and development sites and commercial offices in the United States, Europe, Canada, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including being named to Science magazine's Top Employers in the life sciences ranking for eight years in a row.

    Special Note Regarding Forward-looking Statements
    This press release contains forward-looking statements, as defined in the Private Securities Litigation Reform Act of 1995, as amended, including the quotes in the second and fourth paragraphs of this press release. While the company believes the forward-looking statements contained in this press release are accurate, there are a number of factors that could cause actual events or results to differ materially from those indicated by such forward-looking statements. Those risks and uncertainties include, among other things, risks related to commercializing SYMKEVI in Europe and the other risks listed under Risk Factors in Vertex's annual report and quarterly reports filed with the Securities and Exchange Commission. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available. (VRTX-GEN)

    Source: Vertex Pharmaceuticals Incorporated

  •  

    Very encouraging Late Stage Study Results for forthcoming CF Triple-Combination drugs

    On 27 November Vertex pharmaceuticals released the initial Phase 3 clinical trial data for one of two next-generation, triple-combination drugs that are undergoing late stage clinical trials (Phase 3 trials). These are further part of the CFTR family of drugs that includes Klaydeco; Orkambi and most recently Symkevi.

    ‘The results are very encouraging’  said Philip Watt, CEO Cystic Fibrosis Ireland (CFI). 'They are still at clinical trial stage but they point to the increasingly strong possibility of further drugs coming down the line for those already on a CFTR drug and for some of those that are not. It continues to be a time of hope for people with CF. We are determined to try and ensure that no one gets left behind and that there will be a CFTR drug available to as many patients as possible in Ireland’

    In further, unconnected news - Novartis has sold TOBI Solution and Tobi Pod inhaler to US pharma firm, Mylan which also has a significant presence in Ireland (see information at end of this article).

    The results
    Positive results were announced from late-stage studies of a potential triple-combination CFTR drug for people with cystic fibrosis. Vertex Pharmaceuticals released Phase 3 clinical trial data for two studies of the next-generation modulator VX-659 in combination with ivacaftor and tezacaftor. 

    The first study tested this triple-combination drug on people with CF ages 12 years and older who have one copy of the most common gene alteration (mutation), F508del, and one minimal function mutation

    Results showed that those who received VX-659 combined with ivacaftor and tezacaftor had a 14 percent increase in lung function compared to participants taking a placebo. Researchers believe that anyone with at least one copy of the F508del mutation -- regardless of their second mutation -- could benefit from next-generation modulators.

    The second study included people with CF ages 12 years and older who have two copies of the F508del mutation. The trial compared the effectiveness of Symkevi (tezacaftor/ivacaftor) to VX-659 combined with tezacaftor and ivacaftor. Participants who were given VX-659 combined with tezacaftor and ivacaftor had a 10 percent improvement in lung function over those who were only given Symkevi® (tezacaftor/ivacaftor).

    Just as important are the wider impacts that these drugs will likely have including overall quality of life and reduction in exacerbations and weight gain. It’s too early to be definitive but the signs at this stage are very encouraging.

    Vertex will decide which of the two next-generation drugs they will submit to the U.S. Food and Drug Administration (FDA) for potential approval as a new drug. If approved, it is estimated that triple-combination CFTR modulators could potentially bring the benefits of therapies that treat the underlying cause of the disease to more than 90 percent of people with CF.

    Michael P. Boyle, M.D., senior vice president of therapeutics in the US Cystic Fibrosis Foundation stated:

    ‘It is an exciting time for the CF community, as we approach a milestone that seemed impossible even just a few years ago. Today's announcement represents an important step in our journey to developing treatments for the underlying cause of this disease for all people with cystic fibrosis. We are enthusiastic about the clinical benefit VX-659 demonstrated in these studies and look forward to seeing how these compare to the other next-generation modulator in clinical trials, VX-445.’

    CF Hospital Centres in Ireland have played a key role in supporting clinical trials for these medications. It is unclear yet when they will be submitted for approval to the FDA in the US and the EMA in Europe.

    There are presently 3 Vertex CFTR drugs approved for reimbursement in Ireland. These are ground-breaking drugs that treat the underlying cause of CF and include:

    Kalydeco (2013) primarily for those patients with the G551D gene alteration

    Orkambi (2017)for those patients with two copies of the F508del gene alteration

    Symkevi (2018) for those patients with two copies of the F508del gene alteration (alternate drug to Orkambi)

    In relation to Symkevi, CFI understands that a protocol is being developed. It is likely that those who are doing well on Orkambi (and the feedback to date is generally very positive) will remain on Orkambi.

    The impact of these drugs are closely monitored in Ireland. CFI will continue to provide impartial and informed information about these and future CF Drugs

    Further Drugs News: Novartis sells Tobramycin to Mylan
    In September 2018 Mylan, a Pennsylvania pharma company paid Novartis, the Swiss based pharm-company, 463 million dollars for its CF therapies including TOBI solution and TOBI pod-inhaler. This coincides with TOBI coming off patent. Nebulised Tobramycin was introduced in 1998 and has proven especially effective against Pseudomonos. Meanwhile Teva an international Pharma company has introduced a generic form of Nebulised Tobramycin.  These developments will likely result in significant price reductions in Nebulised Tobramycin to the HSE.