Treatment
From the moment of diagnosis, usually made in infancy, a patient with Cystic Fibrosis must be monitored for life and at regular intervals (at least every three months) by a specialist doctor. He must also be hospitalized in a specialized Cystic Fibrosis Center and follow a daily combination of time-consuming treatments, which last 3-4 hours each day, following a strict medical care protocol.
The daily struggle of the patients requires commitment and discipline and aims to keep the lungs in the best possible condition, but also their body in general. The main goal of care and treatments is to prevent and treat respiratory infections that lead to respiratory failure and alleviate the disease’s symptoms.
Physiotherapy Clearing mucus from lungs (autogenous drainage, ACBT, physio supplies)
Nutrition high in calories due to malabsorption of fat and nutrients
Innovative CFTR Modulator Treatments that targets the causes of the disease by improving the function of the defective gene
Exercise mobilizing mucus in the lungs and improving physical condition
Pharmaceutical Treatment antibiotics, bronchodilators, mucolytic steroids, pancreatic enzymes, vitamins, insulin, etc.
It should be performed daily, and its frequency and duration vary from patient to patient. Physiotherapy helps to mobilize and remove the thick secretions and phlegm that accumulate in the patient’s lung airways. Various techniques include autogenic drainage, the active cycle of breathing techniques, positive expiratory pressure with a PEP mask, flutter, aerobics, acapella, etc.
In combination with physiotherapy, frequent exercise contributes to mobilizing the mucus in the patient’s lungs, strengthening their musculoskeletal system, and improving their physical condition.
Inhaled medications are taken daily through inhalations in a nebulizer, a device that turns the pills into a mist. These drugs include bronchodilators, mucolytics to break down the mucus (Dornase alpha), or antibiotics (tobramycin, aztreonam, colistin, levofloxacin, etc.) to keep the microbial load in the patient’s lungs at low levels.
Patients need to follow a diet rich in calories, fat, and protein to maintain a healthy weight and have good nutrition. To improve the absorption of food nutrients, they should receive daily pancreatic enzymes with every meal or snack. Enzymes are necessary to break down food into components the body can absorb for normal digestion.
Patients with Cystic Fibrosis are hospitalized at regular intervals either in the hospital or at home to receive intravenous antibiotic treatment. Intravenous treatment usually lasts 14-21 days to treat respiratory infections caused by microbes and bacteria that settle in the patients’ lungs and often show resistance to most antibiotics.
Due to malabsorption, many patients take ABDEK vitamin preparations and nutritional supplements. Some patients also receive insulin to treat Cystic Fibrosis Diabetes Mellitus. Various treatments treat chronic sinusitis, such as nasal irrigation with seawater, antihistamines, corticosteroids, and antibiotics. The nasal polyps can be treated surgically, but recurrences are very common. To avoid dehydration, patients should hydrate frequently and eat salty foods, especially in the summer months.
In 2012, the first innovative CFTR Modulator treatment Kalydeco (ivacaftor), was launched. The medicine acts on the causes of the disease and is administered to a small number of patients, as it concerns a limited number of gene mutations. A few years later, the subsequent two CFTR treatments, Orkambi (lumacaftor/ivacaftor) and Symkevi (tezacaftor/ivacaftor), were released and covered a more significant number of gene mutations. These treatments are suitable for those patients who are homozygotes of the most frequent gene mutation F508del but without having the same effectiveness as the first treatment.
In October 2019, the release of the fourth CFTR Modulator in a series of treatments of the triple drug combination ivacaftor/tezacaftor/elexacaftor in combination with ivacaftor, under the trade name Trikafta, was approved in America. Trikafta/Kaftrio is currently the world’s first triple-combination therapy for which approximately 90% of the CF population is eligible.
Heterozygotes patients with one F508del mutation and homozygotes patients with two F508del mutations can receive this treatment.
Under pressure from the Hellenic Cystic Fibrosis Association, in April 2020, the early access program to the revolutionary treatment that “freezes” the disease was launched in Greece, saving the lives of 30 Greek patients in critical condition. In Europe, the launch of the new treatment, under the name Kaftrio, was approved by the European Medicines Agency (EMA) in August 2020 for patients aged 12 years and older.
Kaftrio treatment is administered with Kalydeco and is available to all eligible patients with Cystic Fibrosis in Greece. Thanks to therapy, most Cystic Fibrosis patients have regained their breath, as their respiratory function and general health have improved significantly.
Based on analysis of patients’ data collected by the US Cystic Fibrosis Patient Registry (CFFPR) in 2022, Kaftrio/Kalydeco treatment not only improved patients’ lung function but reduced the risk of exacerbations by 77% compared to before from the start of treatment. In addition, it reduced the risk of lung transplant by 87% and the risk of death by 74%, compared with data from the American Heart Disease Registry in 2019.
Kaftrio/Kalydeco positively affects the course of respiratory function in patients with Cystic Fibrosis. At the same time, studies have shown that starting Kalydeco at a very young age, 6-10 years, maintains lung function in a better condition compared to the administration of Kalydeco at an older age, indicating the importance of beginning Kalydeco as early as possible in eligible patients.
Innovative CFTR Modulators Therapies
Although most Cystic Fibrosis treatments aim mainly to alleviate the symptoms that patients experience, the innovative CFTR Modulators treatments act on the causes of the disease. They improve the function of the defective CFTR gene, which causes Cystic Fibrosis, and “freeze” the condition, significantly slowing down its progression.
With innovative CFTR modifier treatments, patients’ health and quality of life with Cystic Fibrosis improve significantly while their survival expectancy gradually increases. In the coming years, Cystic Fibrosis will transform progressively from a fatal disease into a chronic, treatable condition. At the same time, clinical trials of treatments are underway for patients who have either not had the expected benefits of existing innovative treatments or for patients who are ineligible due to their rare gene mutations.
Gene Therapy
Gene therapy aims to replace the defective CFTR gene in the airway cells of patients with Cystic Fibrosis and is aimed at all patients, regardless of their mutations. Gene therapy is currently in clinical trials, with newer developments expected in the coming years.
Lung Transplant
For cystic Fibrosis patients who are not eligible for CFTR modifier therapy or do not have the expected results from the innovative treatments and are in the final stages of respiratory failure, the only survival solution is a lung transplant.
The transplant takes place once their inclusion in the transplant list is approved. To be listed, a patient must meet specific criteria determined through a series of tests during the pre-transplant screening. The transplant procedure can be carried out when a suitable graft is found. Before and after the transplant, the patient takes medicine to prevent rejection of the transplant.
The follow-up of the transplanted patients never stops and is done every three or six months, depending on their condition. Hospitalization is often required in case of any worsening of respiratory function or if any respiratory symptoms occur. A major issue facing a transplant patient is graft rejection and frequent and severe infections. Based on statistics, the median survival for lung transplantation in patients with Cystic Fibrosis is longer than in other respiratory diseases due to the young age of the transplanted patients with Cystic Fibrosis.
- For more information, visit the website of the Hellenic Transplant Organization (EOM) here
Until 2014, Greece had no stable long-term program for lung transplants. However, with the initiatives of the Hellenic Cystic Fibrosis Association, in 2014, the National Transplantation Organization (EOM) signed an agreement with the Transplantation Center in Vienna General Hospital (AKH).
Thanks to this agreement, more than 20 patients with Cystic Fibrosis, as well as patients with other respiratory diseases, managed to undergo a successful lung transplant in Austria from 2015 to 2019.
In June 2019, Greece’s international cooperation agreement for the lung transplant program in Austria expired. Therefore, in 2019, the Greek State launched the National Lung Transplantation Program at the Onassis Cardiac Surgery Center with the support of the Onassis Foundation. From 2020 to November 2022, 18 lung transplants were performed in the Greek program. By the beginning of 2023, two successful transplants in patients with CF had been performed.
In Greece, organ donation rates are low, and a more significant effort is required concerning the lungs, which are considered fragile and sensitive transplants.
Organ donation is only possible when the donor has died in a hospital. Early identification of potential donors in hospital ICUs and timely receipt of organs is a complex process, requiring a well-organized health system with sufficient specialized scientists.
Organ donation is love and altruism, as eight people can be saved from a single donor.
Onassis Foundation and the National Transplantation Organization have made efforts to increase the number of organ donors in Greece. The Hellenic Cystic Fibrosis Association contributes to these efforts and raises public awareness by launching the “Breath Unlimited – Be a Life Donor” campaign.
Actions included: the illumination of the Parliament building, a dedicated TV spot (here), a mural in the Hospital “Agios Panteleimon” picturing an 18-year-old transplanted patient, and an online challenge. The Honorary Supporter of the Campaign was the President of the Hellenic Republic, Katerina Sakellaropoulou (video here), while 77 leading executives from the Healthcare sector participated as Ambassadors. The campaign received the Silver Healthcare Award 2021. In addition, the campaign tripled organ donor registrations, with 631 new registrations on the National Transplant Organ Organ Donor Registry between December 2020 and January 2021.
For more information on how to become an organ donor in Greece, please visit the website of the National Transplantation Organization (ΕΟΜ) here
