Materiały źródłowe

• #1 Cystic fibrosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706

  There is no cure for cystic fibrosis, but treatment can ease symptoms, lessen complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the worsening of CF over time. This can lead to a longer life. […] Managing CF is complicated, so it’s best to get treatment at a center with a multispecialty team of doctors and other healthcare professionals trained in CF. They can evaluate and treat your condition. […] The goals of treatment include: Preventing and controlling infections that occur in the lungs. Removing and loosening mucus from the lungs. Treating and preventing intestinal blockage. Getting enough nutrition. […] Options include: Medicines that target gene changes and improve how the CFTR protein works. These are called cystic fibrosis transmembrane conductance regulator (CTFR) modulators. Antibiotics to treat and prevent lung infections. Anti-inflammatory medicines to lessen swelling in the airways in the lungs. Mucus-thinning medicines, such as hypertonic saline, to help cough up mucus. This can improve lung function. Medicines breathed into the lungs called bronchodilators. These can help keep airways open by relaxing the muscles around the bronchial tubes. Pancreatic enzyme capsules taken by mouth to help the digestive tract take in and use nutrients. Stool softeners to prevent constipation or bowel obstruction. Acid-reducing medicines to help pancreatic enzymes work better. Specific medicines for diabetes or liver disease, when needed.

• #2 Cystic Fibrosis Treatment & Management: Approach Considerations, Medical Care, Diet and Exercise

  https://emedicine.medscape.com/article/1001602-treatment

  As a result of the complex and multisystemic involvement of cystic fibrosis (CF) and the need for care by specialists, treatment and follow-up care at specialty centers with multidisciplinary care teams (ie, cystic fibrosis centers) is recommended. […] At the time of initial confirmation of the diagnosis, the patient should undergo baseline assessment, investigations, and initiation of therapy. In addition, patient/parent education, including counseling and instructions regarding airway clearance techniques and the use of equipment (eg, nebulizer, spacer for metered-dose inhaler), is recommended. […] The primary goals of CF treatment include the following: Maintaining lung function as near to normal as possible by controlling respiratory tract infection and clearing airways of mucus, administering nutritional therapy (ie, enzyme supplements, multivitamin and mineral supplements) to maintain adequate growth, managing complications.

• #3 Cystic fibrosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706

  For those with cystic fibrosis who have certain gene changes, cystic fibrosis transmembrane conductance regulator (CFTR) modulators may help. About 90% of people with CF may be helped by using these medicines. Gene testing is needed to find out which specific gene change you have and if a CFTR modulator may work for you. […] CFTR modulators are newer medicines that many experts think are a breakthrough in the treatment of CF. The medicines help the CFTR protein work better. This can make lung function better, help digestion and weight, and lessen the amount of salt in sweat. […] Your healthcare professional may do liver function tests and eye exams before prescribing these medicines. While taking these medicines, you’ll likely need testing on a regular basis to check for side effects such as liver function changes and clouding of the eye lenses called cataracts.

• #4 Cystic Fibrosis: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis

  Management includes methods of clearing your airways, medications and a special diet. […] Management involves: Keeping your airways clear and open with breathing techniques and devices to loosen mucus. […] Medications that help correct issues with CFTR proteins (CFTR modulators). […] Medications that reduce specific symptoms. […] Ensuring you get enough of the right kinds of calories from food. […] Surgery. […] You can help to keep your airways clear if you have cystic fibrosis in a number of ways: Coughing and breathing techniques. […] CFTR modulators are medications that can help correct issues with proteins made by mutated CFTR genes and increase the amount of functioning proteins on your cells surfaces. […] Your provider may also prescribe medications that reduce inflammation, treat infections or manage symptoms.

• #5 Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4907071/

  The most significant advance in the treatment of CF over the last few years has been the development of ivacaftor (Kalydeco, Vertex USA). […] Current research and treatment is focused on three groups of drugs: potentiators, correctors or read-through agents. […] The benefit of combined lumacaftor/ivacaftor treatment has been investigated. […] Ataluren promotes ribosomal read-through of premature termination codons resulting in the production of a full length CFTR. […] The prognosis for patients with CF has improved dramatically over the last few decades. Multiple therapies are currently available targeting the downstream complications of the disease and we now have the first drugs in the new classes of CFTR modulators.

• #6 Cystic fibrosis: Treatment with CFTR modulators – UpToDate

  https://www.uptodate.com/contents/cystic-fibrosis-treatment-with-cftr-modulators

  Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are a class of drugs that act by improving production, intracellular processing, and/or function of the defective CFTR protein. These drugs represent an extraordinary advance in management of cystic fibrosis (CF) because they target the production or function of the mutant CFTR protein rather than its downstream consequences. The most widely used approved modulator is the triple combination elexacaftor-tezacaftor-ivacaftor (ETI). Other approved modulators include the triple combination vanzacaftor-tezacaftor-deutivacaftor (VTD), the dual combinations tezacaftor-ivacaftor and lumacaftor-ivacaftor, and ivacaftor monotherapy. Their indications and efficacy depend on the CFTR gene mutations in an individual patient. […] The CFTR modulators that have been approved in the United States are discussed in this topic review.

• #7 Future therapies for cystic fibrosis | Nature Communications

  https://www.nature.com/articles/s41467-023-36244-2

  The last decade has witnessed the development of new drugs targeting the basic defect in CF, with substantial health and quality of life benefits. […] An important initial step was the identification of ivacaftor, a CFTR potentiator that increases channel opening and ion transport. […] The initial dual drug combinations (lumacaftor/ivacaftor and tezacaftor/ivacaftor) led to modest clinical improvements in patients, but most recently, a triple combination of two correctors targeting different aspects of CFTR misfolding (elexacaftor and tezacaftor) plus ivacaftor (ETI) has been developed. […] This combination, licensed as Kaftrio or Trikafta, therefore offers an even greater possibility of effective CFTR modulation for ~ 90% of CF patients. […] Trials of ETI have shown mean increases in ppFEV1 of around 14-15%, beyond anything seen previously in CF.

• #8 Cystic Fibrosis Medication: Enzymes, Pancreatic, Vitamins, Bronchodilators, Mucolytic Agents, CFTR Potentiators and Correctors, Antibiotics, CFTR Potentiators

  https://emedicine.medscape.com/article/1001602-medication

  Similarly, phase 3 trials with tezacaftor/ivacaftor and ivacaftor measured improvements across multiple disease measures, including lung function and pulmonary exacerbations compared with ivacaftor monotherapy. […] Ivacaftor potentiates the CFTR protein, a chloride channel present at the surface of epithelial cells in multiple organs. […] This combination product contains lumacaftor, a CFTR corrector. […] Tezacaftor/ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del. […] Vanzacaftor-tezacaftor-deutivacaftor is once-daily triple combination therapy indicated for CF in patients aged 6 years or older who have at least one F508del mutation or another mutation in the CFTR gene responsive to the combination. […] Azithromycin administered orally 3 times per week on a long-term basis has been shown to improve lung function and nutritional status and to reduce acute pulmonary exacerbations.

• #9 FDA approves new breakthrough therapy for cystic fibrosis | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-new-breakthrough-therapy-cystic-fibrosis

  Treatment approved for approximately 90% of patients with cystic fibrosis, many of whom had no approved therapeutic options. The U.S. Food and Drug Administration today approved Trikafta (elexacaftor/ivacaftor/tezacaftor), the first triple combination therapy available to treat patients with the most common cystic fibrosis mutation. Trikafta is approved for patients 12 years and older with cystic fibrosis who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is estimated to represent 90% of the cystic fibrosis population. Trikafta is a combination of three drugs that target the defective CFTR protein. It helps the protein made by the CFTR gene mutation function more effectively. Currently available therapies that target the defective protein are treatment options for some patients with cystic fibrosis, but many patients have mutations that are ineligible for treatment. Trikafta is the first approved treatment that is effective for cystic fibrosis patients 12 years and older with at least one F508del mutation, which affects 90% of the population with cystic fibrosis or roughly 27,000 people in the United States. The efficacy of Trikafta in patients with cystic fibrosis aged 12 years and older was demonstrated in two trials. Trikafta increased the ppFEV1 in both trials. In the first trial, it increased mean ppFEV1 13.8% from baseline compared to placebo. In the second trial, it increased mean ppFEV1 10% from baseline compared to tezacaftor/ivacaftor. In the first trial, treatment with Trikafta also resulted in improvements in sweat chloride, number of pulmonary exacerbations (worsening respiratory symptoms and lung function), and body mass index (weight-to-height ratio) compared to placebo. The prescribing information for Trikafta includes warnings related to elevated liver function tests (transaminases and bilirubin), use at the same time with other products that are inducers or inhibitors of another liver enzyme called Cytochrome P450 3A4 (CYP3A), and the risk of cataracts. Patients and their caregivers should speak with a health care professional about these risks and any medicines they take before starting treatment. Patients with cystic fibrosis should speak with a health care professional and have tests performed to understand which gene mutations they have. The presence of at least one F508del mutation should be confirmed using an FDA-cleared genotyping assay prior to treatment. The safety and effectiveness of Trikafta in patients with cystic fibrosis younger than 12 years of age have not been established. Trikafta also received orphan drug designation, which provides incentives to assist and encourage the development of drugs for rare diseases.

• #10 Cystic fibrosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706

  Airway clearance techniques, also called chest physical therapy, can help get rid of mucus blocking the airways. It also can help to lessen infection and inflammation in the airways. Airway clearance techniques loosen the thick mucus in the lungs, making it easier to cough up. […] Your healthcare professional may recommend a long-term program called pulmonary rehabilitation. The program may improve your lung function and your overall well-being. Pulmonary rehabilitation is usually done on an outpatient basis and may include: Physical exercise that may improve your condition. Breathing techniques that may help loosen mucus and make breathing easier. Dietary counseling. Mental health counseling and support. Education about your condition. […] Options for certain conditions caused by cystic fibrosis include: Nasal and sinus surgery. Surgery can remove nasal polyps that get in the way of breathing. Sinus surgery may be done to treat repeated or long-term sinusitis. Oxygen therapy. If there isn’t enough oxygen in your blood, you may need supplemental oxygen.

• #11 Treating and Managing Cystic Fibrosis | American Lung Association

  https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/treating-and-managing

  There is no cure for CF, but there have been many advances in CF treatment that are helping patients live longer. You can take medications to help thin and clear the thick mucus from the airways, enzymes to help absorb fat and nutrients, and antibiotics to treat infections. There are also new oral medicines called protein modulators that target fixing the CFTR protein. These medicines have significantly improved life expectancy and may benefit many patients living with CF. Your treatment plan will be tailored to meet your needs. […] People with CF need to perform airway clearance therapy (ACT). This can be done using manual chest physical therapy or a device worn over the chest that helps clear airway secretions by shaking the mucus in the airways, enabling you to cough it up. Another portable mucus clearing device involves breathing through a mask or mouthpiece. This device forces you to breathe out with more pressure, dislodging mucus trapped in the airways.

• #12 Cystic fibrosis | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/lungs-and-airways/cystic-fibrosis/

  Theres currently no cure for cystic fibrosis, but a number of treatments are available to help control the symptoms, prevent complications, and make the condition easier to live with. […] A person with cystic fibrosis will be supported by a team of healthcare professionals at a specialist cystic fibrosis centre. A care plan will be drawn up thats tailored to their individual needs. […] Some of the main treatments for cystic fibrosis include: […] People with cystic fibrosis may need to take a number of different medicines to treat and prevent lung problems. These may be swallowed, inhaled or injected. […] In addition to medication, special techniques can be used to help keep the lungs and airways clear. A physiotherapist can give you advice. […] For people with cystic fibrosis, getting the right nutrition is vital in helping them develop normally and stopping them becoming frequently ill. […] In severe cases of cystic fibrosis, when the lungs stop working properly and all medical treatments have failed to help, a lung transplant may be recommended. […] People with cystic fibrosis can have a number of other problems that may benefit from treatment.

• #13

  https://www2.hse.ie/conditions/cystic-fibrosis/treatment/

  Medicines to make the mucus in the lungs thinner include: dornase alfa, hypertonic saline, mannitol dry powder. […] Medicine to help reduce the levels of mucus in the body include: ivacaftor (Kalydeco), ivacaftor (Kalydeco) taken with lumacaftor (Orkambi). […] Orkambi is only available on compassionate grounds. People must fulfil several criteria set by the manufacturer in order to use it. […] Staying active can help clear mucus from the lungs. […] A physiotherapist can help set an exercise and activity plan for you. […] A physiotherapist can also teach you ways to help keep your lungs and airways clear of mucus. […] These include: active cycle of breathing techniques (ACBT) a cycle of deep breathing, huffing, coughing and relaxed breathing, autogenic drainage this is a series of gentle controlled breathing techniques which clear mucus from the lungs, handheld airway clearance devices these use breathing techniques, vibration and air pressure to help remove mucus from the airways.

• #14 Cystic Fibrosis Treatments | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/pulmonary/adult-cystic-fibrosis-program/cystic-fibrosis/treatments

  There is no cure for cystic fibrosis, but new treatments focus on helping patients live longer, fuller lives. Individualized treatment depends on the severity of the symptoms. […] Pulmonary rehabilitation: This may include exercise, education, nutritional counseling and psychosocial counseling. […] Chest physical therapy: Using your hands or a variety of devices, percussion (pounding) helps loosen mucus in the lungs. […] Exercise: With precautions to avoid dehydration, exercise can help loosen mucus and make breathing easier. […] Medications, including: Antibiotics to fight infection, Anti-inflammatory drugs (inhaled or oral) to reduce airway swelling, Bronchodilators to relax the muscles surrounding the airways, Bone density drugs to build bone mass. […] Supplemental oxygen: This therapy may be necessary when blood oxygen levels are low because of mucus buildup.

• #15 Cystic Fibrosis Treatment & Management: Approach Considerations, Medical Care, Diet and Exercise

  https://emedicine.medscape.com/article/1001602-treatment

  Mild acute pulmonary exacerbations of CF can be treated successfully at home with the following measures: Increasing the frequency of airway clearance, inhaled bronchodilator treatment (especially if bronchial hyperresponsiveness is present or as part of airway clearance [inhaled bronchodilator followed by chest physical therapy and postural drainage]), chest physical therapy and postural drainage, increasing the dose of the mucolytic agent dornase alfa, use of oral antibiotics (eg, oral fluoroquinolones). […] Medications used to treat patients with CF may include the following: Pancreatic enzyme supplements, multivitamins (including fat-soluble vitamins), mucolytics, nebulized, inhaled, oral, or intravenous antibiotics, bronchodilators, anti-inflammatory agents, agents to treat associated conditions or complications (eg, insulin, bisphosphonates), agents devised to potentially reverse the abnormalities in chloride transport (eg, ivacaftor, lumacaftor/ivacaftor, tezacaftor/ivacaftor, elexacaftor-tezacaftor-ivacaftor).

• #16 Cystic fibrosis

  https://www.nhs.uk/conditions/cystic-fibrosis/

  There is currently no cure for cystic fibrosis. But there are treatments that can help ease symptoms. […] You’ll be supported by different healthcare professionals. This may include specialist nurses and doctors, a physiotherapist and a dietitian. […] Medicines that may be used to treat cystic fibrosis include: medicines called CFTR modulators that help the lungs work better by reducing the effect the altered cystic fibrosis gene has on cells in the lungs, medicines to widen your airways and make breathing easier, or make it easier to cough up mucus, antibiotics for infections, steroid medicine to reduce inflammation in the airways. […] You may also need other treatments to help relieve symptoms and reduce the risk of complications. […] These include: physiotherapy a physiotherapist can teach you ways you can improve your breathing and posture to help clear mucus from your lungs, medical devices devices such as inhalers and specially designed masks can help with breathing and mucus clearance, dietary and nutritional support a dietitian can provide advice on a high-energy diet that is easy to digest and you may be given supplements to help your digestion. […] Some people may eventually need a lung transplant if other treatments are not controlling their symptoms, although this is not suitable for everyone. […] There are treatments that can help manage many of the problems linked to cystic fibrosis.

• #17 Cystic fibrosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706

  If you have severe breathing problems or life-threatening lung complications, or if antibiotics no longer work to treat lung infections, a lung transplant may be an option. Because bacteria line the airways in diseases such as CF that cause permanent widening of the large airways, both lungs need to be replaced. […] Cystic fibrosis does not recur in transplanted lungs. But other complications linked with CF, such as sinus infections, diabetes, pancreas conditions and osteoporosis, can still happen after a lung transplant.

• #18

  https://www2.hse.ie/conditions/cystic-fibrosis/treatment/

  A positive expiratory pressure (PEP) is a type of airway clearance device. […] A dietitian will tell you how to take in extra calories and nutrients to avoid malnutrition. […] They may recommend a high-calorie diet. You may have to take vitamin and mineral supplements. Taking digestive enzyme capsules with food will help with digestion. […] If you have severe cystic fibrosis you may need a lung transplant. […] A lung transplant is a serious operation. It carries risks. But it can improve the length and quality of your life.

• #19 Cystic Fibrosis Treatment & Management: Approach Considerations, Medical Care, Diet and Exercise

  https://emedicine.medscape.com/article/1001602-treatment

  In 2024, the CFTR modulator vanzacaftor-tezacaftor-deutivacaftor (Alyftrek) received approval from the FDA for the treatment of CF in patients aged 6 years or older who have at least one F508del mutation or another responsive mutation in the CFTR gene. […] Most patients with CF (90-95%) have pancreatic enzyme insufficiency. Pancreatic enzyme supplements assist digestion, and most of the preparations are available in multiple strengths. […] In 2013, the FDA approved tobramycin inhalation powder for the treatment of CF patients with P aeruginosa. […] Surgical therapy may be required for the treatment of the following respiratory complications: pneumothorax, massive recurrent or persistent hemoptysis, nasal polyps, persistent and chronic sinusitis. […] Lung transplantation is indicated for the treatment of end-stage lung disease. […] Regular exercise increases physical fitness in patients with cystic fibrosis. Upper body exercises, such as canoe paddling, may increase respiratory muscle endurance.

• #20 Cystic Fibrosis (CF): Diagnosis & Treatment | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/pulmonology/cystic-fibrosis/treatment

  These medications, such as hypertonic saline, help thin and loosen mucus to clear a persons airways. […] Bronchial tube-relaxing drugs, called bronchodilators, relax the muscles around the bronchial tubes to ease breathing for the patient and can improve mucociliary clearance. […] These drugs are used to help a persons digestive system absorb important nutrients. […] Constipation is a common symptom of cystic fibrosis; therefore, stool softeners aid in preventing bowel obstructions. […] These medications are used to control diabetes and prevent liver complications common to people with cystic fibrosis. […] CFTR modulators (cystic fibrosis transmembrane conductance regulator). These medications target the CFTR protein to improve its function and allow for better breathing, increased weight gain, and reduced salt in sweat. The FDA has approved new and effective medications for treating cystic fibrosis that have positive outcomes.

• #21 Gene and Cell Therapy for Cystic Fibrosis | Mass General Brigham

  https://www.massgeneralbrigham.org/en/about/newsroom/articles/gene-cell-therapy-cystic-fibrosis

  Cystic fibrosis (CF) is a genetic disorder that can be life-threatening, and currently has no cure. Treatment for cystic fibrosis at Mass General Brigham has been revolutionized in recent years, resulting in people living longer and having a better quality of life than ever before, says Lael Yonker, MD, a Mass General Brigham pediatric pulmonologist. Mass General Brigham is searching for a cure for cystic fibrosis, Dr. Yonker explains. Its possible that gene and cell therapy may be the answer. Gene and cell therapy are forms of precision medicine, which means that treatments are tailored individually based on a persons genes or aspects of their condition. If we can replace or modify the defective gene, we may be able to cure or prevent cystic fibrosis. Thats gene therapy, says Dr. Yonker. Cell therapy treatment, on the other hand, removes cells from a patient (or donor) and modifies the cells in a lab using gene therapy. Health care providers return the cells to the patient through an IV or infusion. The modified cells then teach the body to destroy defective cells that cause mucus buildup. Treatment for cystic fibrosis has come a long way in recent years. But thats not enough. We want a cure gene and cell therapy may hold the key. Mass General Brigham researchers are looking to use the science behind gene and cell therapy to slow, stop, and prevent cystic fibrosis. They also study the use of stem cell therapy to treat damage caused by cystic fibrosis to the lungs, pancreas, and other organs. In our labs and in clinical trials, were testing different approaches to treatment, Dr. Yonker adds. These trials give people with cystic fibrosis the opportunity to access potential new therapies before theyre widely available. Treatment for cystic fibrosis has come a long way in recent years. More and more people with the condition live longer, better lives than ever before, says Dr. Yonker. But thats not enough. We want a cure gene and cell therapy may hold the key.

• #22 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20250220/Inhalable-gene-therapy-tested-for-cystic-fibrosis-treatment-in-the-UK-and-Europe.aspx

  An inhalable medicine with the potential to improve lung disease in people with cystic fibrosis, irrespective of their mutation type, is being tested in human trials in the UK and Europe. […] The aim of the new treatment being trialled, known as BI 3720931, is to improve lung function and reduce exacerbations (flare-ups, often leading to hospitalisation), for people with CF irrespective of their mutation type including those who genetically cannot benefit from other CF therapies. […] The UK CF Gene Therapy Consortium is very excited to have reached this milestone after 24 years of focused effort and in close collaboration with our funding partners. While the immediate target are those patients who are not eligible for CFTR modulators, this novel therapy has the potential to achieve long-lasting CFTR function improvement and disease modification for people with CF irrespective of their mutation type and importantly has the potential for re-dosing if needed.

• #23 A Potential Breakthrough Treatment for Cystic Fibrosis Enters Clinical Trial Led by CI MED and U of Iowa Researchers | Carle Illinois College of Medicine | Illinois

  https://medicine.illinois.edu/news/a-potential-breakthrough-treatment-for-cystic-fibrosis-enters-clinical-trial-led-by-ci-med-and-u-of-iowa-researchers

  Clinical testing is underway for a potentially groundbreaking new treatment for cystic fibrosis. […] This promising inhalable molecular prosthetic is intended to improve lung function in people with CF who cannot benefit from current therapies. […] The first human volunteers in New Zealand recently began taking the new inhaled drug called CM001 (also known as amphotericin B cystetic for inhalation or ABCI), a molecular prosthetic that stands in for missing or dysfunctional protein channels and is intended to restore more normal lung function in patients with cystic fibrosis. […] CM001 (also known as amphotericin b cystetic for inhalation or ABCI) is intended to act as a prosthetic at the molecular scale, replacing the missing protein and restoring ion channel function. […] While the new drug CM001 may be a game-changer for patients who are not treatable with CFTR regulators, other CF patients could benefit as well.

• #24 A Potential Breakthrough Treatment for Cystic Fibrosis Enters Clinical Trial Led by CI MED and U of Iowa Researchers | Carle Illinois College of Medicine | Illinois

  https://medicine.illinois.edu/news/a-potential-breakthrough-treatment-for-cystic-fibrosis-enters-clinical-trial-led-by-ci-med-and-u-of-iowa-researchers

  The concept of molecular prosthetics has the potential to alter the treatment landscape for cystic fibrosis in a profound way; in theory, it should work for all people dealing with the disease, regardless of the type of mutation they present. […] Burke and his team are optimistic that CM001 can act as a prosthetic at the molecular scale, replacing the missing protein and restoring ion channel function. […] The hope is that if we can succeed in CF, this molecular prosthetics approach could become a general way to treat diseases caused by loss of protein function. […] Results of the clinical trial are expected in 2024.

• #25 Cystic Fibrosis Center | Research & Innovation | Boston Children’s Hospital

  https://www.childrenshospital.org/programs/cystic-fibrosis-center/research-innovation

  Another team at Boston Childrens is exploring cell therapy as a way to rehabilitate damaged lung tissue without the need for lung transplant, by introducing healthy, genetically edited lung stem cells created from patients own cells. So far, this general approach shows signs of working in a mouse model.

• #26 About Cystic Fibrosis | Cystic Fibrosis Foundation

  https://www.cff.org/intro-cf/about-cystic-fibrosis

  Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. […] Today, because of improved medical treatments and care, about 60% of people with CF are age 18 or older. Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s, and beyond. […] Although there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short. […] The types of CF symptoms and how severe they are can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each person’s unique needs. […] Each day, people with CF complete a combination of the following therapies: Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs. Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer and include antibiotics to fight lung infections and therapies to help keep the airways clear. Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins. An individualized fitness plan to help improve energy, lung function, and overall health. CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.

• #27 New Drug Changing Lives of Children with Cystic Fibrosis | Children’s Hospital Colorado

  https://www.childrenscolorado.org/advances-answers/recent-articles/new-cystic-fibrosis-treatment/

  When the U.S. Food and Drug Administration (FDA) approved elexacaftor/tezacaftor/ivacaftor (ETI), a new drug combination designed to treat patients 12 years and older with cystic fibrosis (CF), it was a game changer for this progressive, genetic disease. […] In April of 2023, thanks in part to data from Childrens Colorado, the FDA approved the drug for kids as young as 2 years old a significant shift and milestone for young children living with cystic fibrosis. […] This new treatment, called a cystic fibrosis transmembrane conductance regulator (CFTR) modulator, helps restore function to the malfunctioning protein that causes CF. This helps the CFTR protein do a better job of moving chloride ions into and out of the cells and better maintains a balance of salt and water in various organs, including the lungs. This treatment provides remarkable health benefits for up to 90% of people with CF who qualify those with at least one copy of the F508del mutation.

• #28 The Cystic-Fibrosis Breakthrough That Changed Everything – The Atlantic

  https://www.theatlantic.com/magazine/archive/2024/04/cystic-fibrosis-trikafta-breakthrough-treatment/677471/

  Cystic fibrosis once all but guaranteed an early death. When the disease was first identified, in the 1930s, most babies born with CF died in infancy. The next decades were a grind of incremental medical progress: A child born with CF in the 50s could expect to live until age 5. In the 70s, age 10. In the early 2000s, age 35. With Trikafta came a quantum leap. Today, those who begin taking the drug in early adolescence, a recent study projected, can expect to survive to age 82.5—an essentially normal life span. […] Trikafta corrects the misshapen protein that causes cystic fibrosis; this molecular tweak thins mucus in the lungs so it can be coughed up easily. In a matter of hours, patients who took it began to cough—and cough and cough and cough in what they later started calling the Purge.

• #29 Cystic Fibrosis Breakthrough

  https://www.kumc.edu/school-of-medicine/about/ku-medicine-magazine/winter-2021/cystic-fibrosis-breakthrough.html

  NEJM publishes clinical trial results leading to cystic fibrosis breakthrough […] The clinical trial that Carollo participated in at the KU Medical Center was one of two phase 3 trials that led to the approval of the drug, known by its brand name, Trikafta, by the U.S. Food and Drug Administration on October 21. […] Trikafta, a pill meant to be taken twice a day, is actually a combination of three drugs (elexacaftor, ivacaftor, and tezacaftor) designed for people who have the most common cystic fibrosis genetic mutation. […] „This is really a breakthrough,” said Polineni. „This is what many people are calling a game-changer in the disease.” […] Trikafta is the latest in a series of new treatments that have addressed the root cause of cystic fibrosis: mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

• #30 The Cystic-Fibrosis Breakthrough That Changed Everything – The Atlantic

  https://www.theatlantic.com/magazine/archive/2024/04/cystic-fibrosis-trikafta-breakthrough-treatment/677471/

  CF was one of the first diseases to be traced to a specific gene, and Trikafta is one of the first drugs designed for a specific, inherited mutation. It is not a cure, and it doesn’t work for all patients. But a substantial majority of the 40,000 Americans with CF have now lived through a miracle—a thrilling but disorienting miracle. […] Trikafta is a lifelong medication, and it is not meant to undo organ damage that has already occurred. But the earlier treatment begins, the healthier one stays. […] After Kalydeco, the next CF mutation to target was obvious. About 1,700 unique mutations have been found in people with CF, but some 90 percent of patients—including Jenny—carry at least one copy of a mutation, known as F508del, that leaves their protein channels too seriously distorted for Kalydeco alone to correct.

• #31 Cystic Fibrosis: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis

  If you have CF, your dietary needs are different from those of someone without CF. […] Your CF specialist or a registered dietitian may recommend a nutrition plan. […] You may need surgery for cystic fibrosis or one of its complications. […] Theres no cure for cystic fibrosis. You can manage the disease and its symptoms with the help of a cystic fibrosis specialist and other providers on your healthcare team. […] Treatments work best when CF is diagnosed early, which is why newborn screening is so important. The addition of CFTR modulators at a young age may improve long-term health and increase life expectancy even more in the future.

• #32 New Drug Changing Lives of Children with Cystic Fibrosis | Children’s Hospital Colorado

  https://www.childrenscolorado.org/advances-answers/recent-articles/new-cystic-fibrosis-treatment/

  It improves lung function, improves growth and reduces pulmonary exacerbations, which are respiratory illnesses that historically led to hospitalizations of people with cystic fibrosis. […] Before these drugs, our standard of care really was to treat complications of cystic fibrosis, Edith Zemanick, MD, Associate Director of the Center, says. […] The modulators treat the underlying problem, so they get to the cause of all of those consequences. […] We dont know all the things that these protein modulators do for people with cystic fibrosis, Dr. Sagel says. […] Our hope is that we wont need to see kids as often in clinic, and that they may be able to reduce some of their daily treatments, giving them more time to go to school, play and enjoy being a kid, Dr. Zemanick says. […] The SIMPLIFY study investigated the impact of removing one of those pieces the mucus-thinning medication.

• #33 New Drug Changing Lives of Children with Cystic Fibrosis | Children’s Hospital Colorado

  https://www.childrenscolorado.org/advances-answers/recent-articles/new-cystic-fibrosis-treatment/

  So, we are now trying to figure out what people with CF do and do not need in terms of their previous standard of care therapies and working to reduce the burden of these treatments if they are unnecessary, Dr. Sagel says. […] Now for many of our children that are starting therapy at a young age, we expect them to have a near normal lifespan, Dr. Sagel says. […] The goal is to be able to start these medicines shortly after diagnosis, Dr. Sagel says. Certainly, from a therapeutic standpoint, this is our best advancement and biggest breakthrough for cystic fibrosis.

• #34 Cystic Fibrosis: Update on Treatment Guidelines and New Recommendations

  https://www.uspharmacist.com/article/cystic-fibrosis-update-on-treatment-guidelines-and-new-recommendations

  Airway clearance therapy is performed on a daily basis to improve clearance of mucus from the lungs. […] Drugs to treat CF are designed to improve the clearance of mucus from the lungs and to treat persistent infections. […] The Cystic Fibrosis Foundation recommends the following treatments as having a high certainty of substantial net benefit, grade A, for moderate-to-severe disease: inhaled tobramycin, dornase alfa, ivacaftor, and inhaled aztreonam. […] Inhaled hypertonic saline is administered by nebulization to restore airway hydration, induce expectoration of sputum, and enhance mucociliary function. […] Dornase alfa (Pulmozyme) is a recombinant human deoxyribonuclease that cleaves to the extracellular DNA of mucus and decreases the viscosity of mucus, making it easier to cough up.

• #35 Cystic Fibrosis: Update on Treatment Guidelines and New Recommendations

  https://www.uspharmacist.com/article/cystic-fibrosis-update-on-treatment-guidelines-and-new-recommendations

  Bacterial colonization and growth in the lungs often causes pulmonary exacerbations in CF patients. […] In patients (aged 6 years) with chronic presence of Pseudomonas aeruginosa in airway cultures, prophylactic use of antibiotics (tobramycin, aztreonam, and azithromycin) is recommended. […] Ivacaftor (Kalydeco) was the first approved disease-modifying (potentiator) drug for CF (2012) compared with the previous drugs that only addressed the treatment of symptoms. […] The Cystic Fibrosis Foundation recommends against the chronic use of inhaled or oral corticosteroids and leukotriene modifiers owing to insufficient evidence that they can improve lung function and quality of life, or reduce exacerbations. […] Chronic use of oral high-dose ibuprofen to reach a peak plasma concentration of 50-100 mcg/mL is recommended for individuals aged 6 to 17 years with an FEV1 greater than 60% predicted in order to slow the progressive loss of lung function in this group. […] Pharmacists need to understand the pathophysiology of this disease and the current guidelines for treatment in order to provide appropriate treatment recommendations.

• #36 Cystic Fibrosis | Condition | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/cystic-fibrosis/

  Its important to receive care from a CF specialty clinic for lifelong monitoring and specialized care, which are key to successfully managing CF. At UT Southwestern, our team has advanced training and extensive experience in CF care. […] Depending on each patients specific needs, our providers prescribe medications that include: […] We offer effective noninvasive therapies, which can be used alone or with medications to relieve CF symptoms. […] Our surgeons perform procedures to relieve breathing and intestinal symptoms. […] Cystic fibrosis does not recur in transplanted lungs. However, other complications associated with CF, such as sinus infections, diabetes, and pancreas problems, may still be present after a lung transplant. […] Our lung transplant program has been especially successful in providing transplants to patients with cystic fibrosis.

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