[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"cystic-fibrosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:cystic-fibrosis":27},{"pageToken":4,"total":5,"offset":6,"count":7,"results":8},null,84,0,25,[9,48,71,102,128,136,167,190,219,238,266,286,309,333,359,381,407,432,452,478,499,548,570,597,619],{"id":10,"slug":11,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":30,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":4,"leadSponsor":44,"locationsCount":47},"100053333","natural-history-of-bronchiectasis-100053333",false,"NCT00943514","Natural History of Bronchiectasis","* PARTICIPANT INCLUSION CRITERIA:\n\n  1. Children age 5 years and above and adults referred to the NIH with chronic or recurring respiratory infections will be eligible for participation.\n  2. Males and females will be considered without regard to race or ethnicity or upper age limit.\n  3. Emphasis will be primarily on non CF bronchiectasis for elucidation of mechanisms of infection susceptibility. However, select patients with cystic fibrosis or acquired immune defects (such as HIV) may be studied if relevant host defects are suspected, if needed for comparison purposes, or to evaluate and study the management of chronic pathogen associated conditions such as nontuberculous mycobacterial infections or allergic bronchopulmonary aspergillosis.\n  4. Subjects must have a primary or referring physician\n  5. Subjects must be willing to have samples stored\n\nINCLUSION CRITERIA FOR RELATIVES:\n\nAs a part of this protocol we may obtain blood, sputum, urine, or buccal swabs from some blood relatives of patients on the study, with the hope of isolating and characterizing the primary host defense defect(s) or genetic links responsible for airway infection susceptibility and\u002For bronchiectasis seen within families. Male and female relatives will be accepted without limitation due to age. These relatives may have pertinent disease-related history obtained, but will neither receive treatment nor have any other protocol procedures done unless they are enrolled on the study.\n\nPARTICIPANT EXCLUSION CRITERIA:\n\n1. We wish to avoid enrolling subjects, especially children, who have common respiratory problems (aeroallergen sensitivity, asthma, gastric esophageal reflux) that are not associated with an underlying abnormality in host defenses. Evidence of significance of chronic or recurring infections suggestive of an underlying airway surface or systemic host defense defect should be documented by one or more of the following: a) sinus or lower airway cultures positive for bacterial, fungal, or mycobacterial pathogens characteristic of these defects; or b) radiographic evidence of sinusitis with mucosal thickening and\u002For air-fluid levels; or c) radiographic evidence of bronchiectasis; d) severity of otitis media requiring placement of tympanic membrane pressure equalization tubes; e) severity of sinusitis requiring surgical intervention.\n2. Patients who are unable or unwilling to provide informed consent either directly or via appropriately designated surrogate.\n3. Any patient who, in the opinion of the Investigator, is unable or unwilling to comply with regular follow-up or is unlikely to provide pertinent information regarding disease progression or response to treatment may be excluded from longitudinal follow-up.\n\nPARTICIPATION OF CHILDREN:\n\nChildren under the age of 5 will be excluded from this protocol due to the difficulty of performing pertinent assays in infants and younger children, difficulty distinguishing significance of respiratory infections which occur commonly in younger children, and the lack of adequate facilities and equipment for management of children younger than 2 years.",true,"ALL","5 Years","100 Years",{"count":21,"type":22},900,"ESTIMATED","OBSERVATIONAL","Background:\n\n* Bronchiectasis is a disease characterized by airways that are inflamed, abnormally dilated, and chronically infected. Individuals with bronchiectasis have a history of chronic and recurring respiratory infections. Depending on the underlying cause, these infections may involve the entire respiratory tract, resulting in sinus, ear, and lung disease.\n* Bronchiectasis continues to be a significant problem in developing countries and in specific groups of individuals, particularly in people who have cystic fibrosis. Although treatments are available or under development for bronchiectasis related to cystic fibrosis, many of the disease-specific treatments may not be effective for bronchiectasis not related to cystic fibrosis.\n\nObjectives:\n\n\\- To study the natural history of bronchiectasis to identify inherited and immune factors that may explain why certain individuals have chronic recurring infections.\n\nEligibility:\n\n* Individuals 5 years of age and older who have an established diagnosis of bronchiectasis or a history of chronic\u002Frecurring respiratory infections.\n* Direct family members (e.g., parents, siblings, children) of patients in the study may also be asked to participate.\n\nDesign:\n\n* Potential participants will be screened with an initial clinic evaluation and full medical history, as well as a general quality of life and respiratory symptom questionnaire.\n* The following standard procedures may be done as part of the study: air sampling from the nose; imaging studies, which may include an x-ray or computed tomography (CT), lung function tests; and collection of samples of blood, urine, and sputum (phlegm or mucus). Other tests may be performed as required by the researchers, and will be explained to patients as needed.\n* Both patients and relatives (if asked to participate) will provide the following samples: blood or buccal (cheek swab) cells for genetic testing, sputum, and urine.\n* To prevent infections and potential disease progression, patients may receive standard medical care and treatment for bronchiectasis and related infections during this protocol.",[26,27,28,29],"Bronchiectasis","Cystic Fibrosis","Autoimmune Disease","Common Variable Immunodeficiency",[31,32,33,34,35,36],"Variant Cystic Fibrosis","Bronchopulmonary Mycosis","Airway Infection Susceptibility","Chronic Respiratory Infection","Primary Ciliary Dyskinesia","Natural History","RECRUITING","2026-07-10",{"date":40,"type":41},"2026-07-13","ACTUAL",{"date":43,"type":41},"2009-08-01",{"name":45,"class":46},"National Heart, Lung, and Blood Institute (NHLBI)","NIH",1,{"id":49,"slug":50,"hasResults":12,"nctId":51,"briefTitle":52,"officialTitle":52,"acronym":4,"eligibilityCriteria":53,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":58,"conditions":59,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":47},"100520526","quantitation-and-spatial-registration-of-airways-dysfunction-with-dynamic-19f-mri-in-cystic-fibrosis-100520526","NCT06057714","Quantitation and Spatial Registration of Airways Dysfunction With Dynamic 19F MRI in Cystic Fibrosis","Inclusion Criteria:\n\n1. Subjects must be ≥18 years of age\n2. Non-smokers (\\\u003C10 pack\u002Fyear history and no active smoking in the past year)\n3. Diagnosis of cystic fibrosis via standard sweat chloride\u002Fphenotypic features\u002Fgenotyping\n4. No use of supplemental oxygen\n5. Stable lung function (within 10% of personal best in the last 6 months) with no pulmonary exacerbations in the past 4 weeks and baseline FEV1≥60% of predicted\n6. Evidence of a personally signed and dated consent indicating that the subject has been informed of all pertinent aspects of the trial\n7. Subjects must be willing and able to comply with scheduled visits and other trial procedures\n\nExclusion Criteria:\n\nSubjects presenting with any of the following will not be included in the trial:\n\n1. Active or past smokers or vapers with less than 1 year since quitting or \\>10 pack-year smoking history\n2. Unable to undergo a 3.0-Tesla MRI exam of the lungs and chest because of contraindications including\n\n   1. Occupation (past or present) of machinist, welder, or grinder;\n   2. Injury to the eye involving a metallic object\n   3. Injury to the body by a metallic object (bullet, bullet ball, shrapnel)\n   4. Presence of a cardiac pacemaker or defibrillator\n   5. Presence of aneurysm clips\n   6. Presence of carotid artery vascular clamp\n   7. Presence of neurostimulator\n   8. Presence of insulin or infusion pump\n   9. Presence of implanted drug infusion device that is not known to be MRI compatible (i.e., was placed outside of UNC or is older than 10 years)\n   10. Bone growth or fusion simulator\n   11. Presence of cochlear, otologic or ear implant\n   12. Any type of prosthesis (eye, penile, etc.)\n   13. Artificial limb or joint\n   14. Non-removable electrodes (on body, head or brain)\n   15. Intravascular stents, filters or coils\n   16. Shunt (spinal or intraventricular)\n   17. Swan-Ganz catheter\n   18. Any implant held in place by a magnet\n   19. Transdermal delivery system (e.g. Nitro)\n   20. An intrauterine device or diaphragm that is not MRI compatible\n   21. Tattooed makeup (eyeliner, lips, etc.) or tattoos covering \\>25% of body surface area\n   22. Body piercings (must be removed before MRI)\n   23. Any metal fragments\n   24. Internal pacing wires\n   25. Metal or wire mesh implants\n   26. Hearing aid (remove before MRI) aa. Dentures (remove before MRI) bb. Claustrophobia\n3. Unable to tolerate inhalation of gas mixture\n4. Presence of facial hair that may interfere with the fit of the mask (and unwillingness to shave prior to each MRI)\n5. Any changes in medications that may affect CF lung disease in the past 28 days, including any experimental therapies\n6. Other severe acute or chronic medical or psychiatric condition or laboratory abnormality that may increase the risk associated with trial participation or may interfere with the interpretation of trial results and, in the judgment of the investigator, would make the subject inappropriate for entry into this trial.\n7. Pregnancy; women of childbearing potential must have a confirmed negative urine pregnancy test on the day of the MR scan, prior to the MRI scan.","18 Years","99 Years",{"count":57,"type":22},30,"The purpose of this study is to look at lung ventilation in people with cystic fibrosis over time (1 year) using magnetic resonance imaging (MRI) with an inhaled contrast gas, and compare these measures to lung function assessed by spirometry and multiple breath nitrogen washout. This study also looks at how these measures change in response to a pulmonary exacerbation and treatment (if applicable). Over the span of a year, participants would be asked to complete 3-5 visits to the University of North Carolina at Chapel Hill (UNC). with each lasting up to 4 hours. If participants do not have a pulmonary exacerbation during the year they would be asked to complete 3 visits (one at enrollment, a second roughly 2 weeks later, and the third approximately a year later). If participants do experience a CF pulmonary exacerbation they would complete 5 visits (Visit 1, Visit 2, two exacerbation visits with one before treatment and the other after, and Visit 3 at one year after Visit 1). Only one exacerbation per participant will be tracked. Participants are eligible for this study if they are 18 years old or older, have Cystic Fibrosis (CF) with mild lung disease (FEV1 \\>\u002F= 60%), and can undergo an MRI. There are no known benefits for participating in this study.",[27,60],"Ventilatory Defect","2026-06-30",{"date":63,"type":41},"2026-07-02",{"date":65,"type":41},"2021-01-20",{"date":67,"type":22},"2026-08",{"name":69,"class":70},"University of North Carolina, Chapel Hill","OTHER",{"id":72,"slug":73,"hasResults":12,"nctId":74,"briefTitle":75,"officialTitle":76,"acronym":77,"eligibilityCriteria":78,"healthyVolunteers":12,"sex":17,"minAge":79,"maxAge":54,"enrollmentInfo":80,"targetDuration":4,"studyType":82,"phases":83,"briefSummary":85,"conditions":86,"keywords":87,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":93,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":101},"100566405","streamlined-treatment-of-pulmonary-exacerbations-in-pediatrics-100566405","NCT06654752","Streamlined Treatment of Pulmonary Exacerbations in Pediatrics","Streamlined Treatment of Pulmonary Exacerbations in Pediatrics Randomized Controlled Trial (STOP PEDS RCT)","STOP PEDS RCT","Inclusion Criteria:\n\n1. Age\n\n   1. For main cohort and non-HEMT cohort: age 6 to \\\u003C19 years\n   2. For preschool cohort: age 3 to \\\u003C6 years\n2. Documentation of a CF diagnosis as evidenced by one or more clinical features consistent with the CF phenotype and one or more of the following criteria:\n\n   1. sweat chloride ≥ 60 mEq\u002Fliter\n   2. two disease-causing variants in the cystic fibrosis transmembrane conductive regulator (CFTR) gene\n3. Written informed consent (and assent when applicable) obtained from participant or participant's legal representative and ability of participant to comply with the requirements of the study\n4. Highly Effective Modulator Therapy\n\n   1. For main cohort and preschool cohort: Taking HEMT for at least 3 months at enrollment\n   2. For non-HEMT cohort: not eligible for HEMT based on CFTR genotype or eligible but not taking for at least 3 months and no plans to start HEMT in the next year, and also not taking tezacaftor-ivacaftor or lumacaftor-ivacaftor for at least 3 months\n5. For main cohort and non-HEMT cohort: able to perform acceptable and reproducible spirometry\n6. For main cohort and non-HEMT cohort: ppFEV1 ≥ 50% predicted at enrollment based on the Global lung Initiative (GLI) reference equations\n7. Ability to receive text messages and access the internet\n\nExclusion Criteria:\n\n1. Presence of a condition or abnormality that in the opinion of the Investigator would compromise the safety of the individual or the quality of the data\n2. Receiving an acute course of oral or IV antibiotics at the time of enrollment or within the 14 days prior to enrollment. Individuals may be re-screened ≥21 days after completion of antibiotics if they are at their baseline state of health, per self-report\n3. Treatment with systemic corticosteroids at enrollment or within the 14 days prior to enrollment. Individuals may be re- screened ≥21 days after completion of systemic corticosteroids if they are at their clinical baseline, per self-report\n4. History of solid organ transplant\n5. History of positive culture for Mycobacterium abscessus in the 12 months prior to enrollment\n6. Treatment with antibiotics for any non-tuberculous mycobacteria (NTM) at enrollment\n7. Three or more IV antibiotic-treated PEx in the 12 months prior to enrollment\n8. Treatment with chronic oral antibiotics other than azithromycin at enrollment\n9. Treatment with systemic corticosteroids for allergic bronchopulmonary aspergillosis (ABPA) in the 12 months prior to enrollment","3 Years",{"count":81,"type":22},430,"INTERVENTIONAL",[84],"NA","The STOP PEDS RCT is a multicenter, parallel, open label randomized controlled trial evaluating the long-term (one year) and short-term safety and efficacy of two antibiotic treatment strategies for the management of outpatient pulmonary exacerbations (PEx) in the pediatric CF population.",[27],[88,89,90,91],"cystic fibrosis","oral antibiotics","pulmonary exacerbation","pediatric","2026-06-18",{"date":94,"type":41},"2026-06-22",{"date":96,"type":41},"2024-12-01",{"date":98,"type":22},"2029-02-28",{"name":100,"class":70},"University of Washington, the Collaborative Health Studies Coordinating Center",33,{"id":103,"slug":104,"hasResults":12,"nctId":105,"briefTitle":106,"officialTitle":107,"acronym":108,"eligibilityCriteria":109,"healthyVolunteers":12,"sex":17,"minAge":110,"maxAge":111,"enrollmentInfo":112,"targetDuration":4,"studyType":82,"phases":114,"briefSummary":115,"conditions":116,"keywords":117,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":120,"startDateStruct":121,"completionDateStruct":123,"leadSponsor":125,"locationsCount":127},"100511313","intestine-lung-axis-of-cystic-fibrosis-patients-treated-with-the-combination-elexacaftortezacaftorivacaftor-100511313","NCT05937815","Intestine-lung Axis of Cystic Fibrosis Patients Treated With the Combination Elexacaftor\u002FTezacaftor\u002FIvacaftor","Monitoring of the Intestine-lung Axis of Cystic Fibrosis Patients Treated With the Combination Elexacaftor\u002FTezacaftor\u002FIvacaftor: Study of the Pulmonary and Gut Microbiota and Inflammation","KAF-BIOTA","Inclusion Criteria:\n\n* To have cystic fibrosis (sweat test \\> 60 mmol\u002Fl);\n* Carrier of at least one DeltaF508 mutation;\n* Be followed in the current care by a participant in the CRCM study;\n* Start treatment with elexacaftor\u002Ftezacaftor\u002Fivacaftor in routine care, according to the indications in the Marketing Authorization at the time of inclusion;\n* Be of the age specified in the marketing authorization in force;\n* Person affiliated or beneficiary of a social security scheme;\n* Consent obtained by the patient (for adult patients) or the holders of parental authority (for minor patients) before any examination required by the research and oral and\u002For written consent by the participant (depending on his or her age) .\n* Patient agreeing to take part in cohort follow-up studies of patients treated with elexacaftor\u002Ftezacaftor\u002Fivacaftor, included in the French cystic fibrosis register (cf. Study by Pr BURGEL and\u002For MODUL CF).\n\nExclusion Criteria:\n\n* Start of treatment with elexacaftor\u002Ftezacaftor\u002Fivacaftor as part of a therapeutic trial.\n* Patient already on CFTR modulator (including lumacaftor\u002Fivacaftor)\n* Vulnerable people (pregnant woman, person under guardianship\u002Fcurators)","6 Years","17 Years",{"count":113,"type":22},253,[84],"Cystic fibrosis is a systemic disease, which affects in particular the respiratory and digestive systems of patients, sites of chronic inflammation.\n\nA new combination of elexacaftor\u002Ftezacaftor\u002Fivacaftor has proven its efficacy for the treatment of patients aged 12 years and over with two F508del mutations or a so-called \"minimal function\" mutation associated with one F508del mutation. European marketing authorization was obtained in August 2020 and access in France should therefore arrive soon. Given that this treatment targets new mutations and that the efficacy seems greater than with LUM\u002FIVA, it is important to assess its impact on the microbiota and the pulmonary and digestive inflammation of patients.\n\nIt is therefore a question of taking advantage of the experience of the Lum-Iva-Biota cohort, and the validated and operational sample circuit established in the various participating centers to set up a biological collection for the collection and storage of sputum and stools of patients during the first year of treatment with elexacaftor\u002Ftezacaftor\u002Fivacaftor, in order to study the effect of treatment on the lung and digestive microbiota\u002Fmycobiota and inflammation.",[27],[118,119],"elexacaftor\u002Ftezacaftor\u002Fivacaftor","lung and digestive microbiota and inflammation",{"date":94,"type":41},{"date":122,"type":41},"2021-09-13",{"date":124,"type":22},"2026-09-13",{"name":126,"class":70},"University Hospital, Bordeaux",15,{"id":129,"slug":4,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":130,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":131,"keywords":132,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":133,"startDateStruct":134,"completionDateStruct":4,"leadSponsor":135,"locationsCount":47},"100128676",{"count":21,"type":22},[26,27,28,29],[31,32,33,34,35,36],{"date":94,"type":41},{"date":43,"type":41},{"name":45,"class":46},{"id":137,"slug":138,"hasResults":12,"nctId":139,"briefTitle":140,"officialTitle":141,"acronym":4,"eligibilityCriteria":142,"healthyVolunteers":16,"sex":17,"minAge":143,"maxAge":144,"enrollmentInfo":145,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":147,"conditions":148,"keywords":153,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":160,"lastUpdatePostDateStruct":161,"startDateStruct":163,"completionDateStruct":4,"leadSponsor":165,"locationsCount":166},"100054548","role-of-genetic-factors-in-the-development-of-lung-disease-100054548","NCT00001532","Role of Genetic Factors in the Development of Lung Disease","Role of Genetic Factors in the Pathogenesis of Lung Disease","* INCLUSION CRITERIA:\n\nInclusion criteria for patients with AAT deficiency include: (1) Diagnosis of AAT with a confirmed phenotype considered in the high risk category; (2) Clinical phenotype consistent with potential genetic diseases and other genetic causes of lung diseases (3) symptoms consistent with pulmonary disease; (4) chest x-ray consistent with pulmonary disease; (5) pulmonary function tests consistent with pulmonary disease; (6) smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have quit smoking three or more years ago;\n\nInclusion criteria for individuals with chronic obstructive pulmonary diseases include:\n\n1. symptoms consistent with pulmonary disease\n2. chest x-ray consistent with pulmonary disease\n3. pulmonary function tests consistent with pulmonary disease;\n4. smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have not smoked for three or more years.\n\nInclusion criteria for patients with cystic fibrosis include a defined genetic mutation (i.e., any of the known variants of the CFTR gene, such as delta F508 allele) or a cystic fibrosis phenotype and clinical features consistent with this disease. Children with cystic fibrosis over eight years of age may be included.\n\nPatients with established diagnoses of sarcoidosis; mycobacterial infections; TSC (definite or possible); cystic lung diseases including genetic diseases; lymphangioleiomyomatosis or diseases associated with lymphatic disorders; history of pneumothorax; pulmonary fibrosis; asthma; histiocytosis X and diabetes mellitus will be included in this protocol. Relatives of patients may also be seen under this protocol. Children with lymphangiomatosis who are two years of age or older may be included. Participants with asthma may be enrolled at Suburban Hospital.\n\nResearch volunteers in the pulmonary control group are defined as individuals with no pulmonary disease (e.g. rheumatoid arthritis without evidence of pulmonary disease). Research volunteers in the diabetes control group are defined as individuals with no history of diabetes, coronary artery disease, or pulmonary disease.\n\nPregnant and or nursing women can be included in accordance with Federal Regulations at Subpart B of 45 CFR 46. Subjects who are pregnant and or nursing will be excluded from procedures during their pregnancy that are greater than minimal risk, until they are no longer pregnant and\u002For nursing. Procedures that will not be completed while the subject is pregnant and\u002For nursing including: PFTs, Six Minute Walk Test, thoracentesis, bronchoscopy, and measurements with imaging modalities requiring contrast or with radiation exposure such as Chest x-ray, CT scan, MRI. Allowing subjects to be included in the study may glean important information about individuals with uncommon pulmonary disease during and post pregnancy.\n\nPatients with abnormalities in ADP-ribosyltransferases, ADP-ribosyl-acceptor hydrolases, and their substrates. Children who are two years of age or older may be studied if they have a known defect in ADP-ribosylation, or if they have a family member with a defect in ADP-ribosylation and may be affected.\n\nEXCLUSION CRITERIA:\n\nExclusion criteria for all participants include:\n\n1. age less than 18 or greater than 90 except for NIH patients with diseases \u002Fdisorders as described in this protocol (except cystic fibrosis, lymphangiomatosis or defects in ADP-ribosylation) who are 16 years of age or older, patients with cystic fibrosis who are over eight years of age, patients who are two years of age or older with lymphangiomatosis or a known defect in ADP-ribosylation, or who have a family member with a defect in ADP-ribosylation, or unless patient-specific IRB approval is obtained and;\n2. inability to obtain reliable pulmonary function testing. As clarification, healthy volunteers, relatives of patients (except as noted for an ADP-ribosylation defect), and asthmatic patients from Suburban Hospital will be excluded if less than 18 or greater than 90 years of age.\n\nExclusion criteria for participating in the bronchoscopy portion of the study are:\n\n1. presence of any contraindication for fiberoptic bronchoscopy, with lavage and\u002For bronchial brushing;\n2. advanced stage of a pulmonary or a systemic illness such that the risk is judged to be significant even in the absence of a specific contraindication to the procedure\n3. allergy to topical anesthetic (e.g., lidocaine)\n4. current or recent respiratory infection (within the last 4 weeks)\n5. pregnancy or lactation\n6. age less than 18 or greater than 65.","2 Years","90 Years",{"count":146,"type":22},3500,"This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.\n\nThe study will focus on defining the distribution of abnormal genes responsible for processes directly involved in different diseases affecting the lungs of patients and healthy volunteers.\n\nOptional CT Sub-study\n\nThe standard CT scan will be compared to the low dose radiation CT scan for the 150 subjects enrolled in the sub-study to assess the variation between the two techniques. Specifically, the quantitative computer aided detection of lung CT abnormalities from LAM can be compared to assess whether low radiation dose CT exams is an alternative to conventional CT to monitor disease\n\nstatus.\n\nThis optional sub-study will be offered to up to 100 adult subjects with lung disease and up to 50 children age 9 and older with CF. Children will not be enrolled in the optional CT sub-study unless they have had a standard CT scan for medical purposes to use in comparison. One additional low dose radiation CT scan of the chest may be done as part of this sub-study when these subjects have their next annual CT scan.",[27,149,150,151,152],"Pulmonary Fibrosis","Tuberous Sclerosis","Asthma","Pulmonary Sarcoidosis",[154,155,156,157,158,36,159,27,151],"Genetic Polymorphism","Nitric Oxide Synthesis","Alpha 1-Antitrypsin","Candidate Genes","Lung Pathology","Lung Disease","2026-06-13",{"date":162,"type":41},"2026-06-16",{"date":164,"type":41},"1996-09-13",{"name":45,"class":46},2,{"id":168,"slug":169,"hasResults":12,"nctId":170,"briefTitle":171,"officialTitle":172,"acronym":173,"eligibilityCriteria":174,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":4,"enrollmentInfo":175,"targetDuration":4,"studyType":82,"phases":177,"briefSummary":178,"conditions":179,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":181,"lastUpdatePostDateStruct":182,"startDateStruct":184,"completionDateStruct":186,"leadSponsor":188,"locationsCount":47},"100498170","feed-cystic-fibrosis-feed-cf-100498170","NCT05766774","FEED-Cystic Fibrosis (FEED-CF)","Feeding Study to Optimize Endocrine Dysfunction in Cystic Fibrosis","FEED-CF","Inclusion Criteria:\n\n1. Confirmed CF diagnosis\n2. Ages 18 years and older\n3. Baseline estimated daily total added sugar intake \\>16 tsp, as estimated from the Dietary Screener Questionnaire (DSQ).\n\nExclusion Criteria:\n\n1. Nocturnal tube feeds\n2. BMI \\\u003C18.5 kg\u002Fm2\n3. Life expectancy \\\u003C 12 months\n4. Confirmed diagnosis of CFRD\n5. Screening OGTT showing fasting hyperglycemia (≥126 mg\u002FdL)\n6. Chronic steroid use\n7. Current pregnancy or lactation\n8. Inability\u002Funwillingness to consume the majority of foods on the menu during the study period\n9. MRI-incompatible metal that cannot be removed for testing\n10. Uncontrolled exocrine pancreatic insufficiency\u002Fmalabsorption\n11. Clinically instability, defined as no changes in medical regimen (including medications and pulmonary exacerbations) for at least 21 days prior to study visit\n12. Initiation of CFTR modulator within previous 8 weeks OR unstable changes in weight and lung function due to CFTR modulator use\n13. Actively trying to gain or lose weight\n14. Any food allergies or intolerances that cannot be accommodated\n15. Any medical condition deemed by the a study physician or PI that may preclude completion of the study or interfere with primary end points.",{"count":176,"type":22},60,[84],"The goal of this study is to determine the extent to which excess dietary sugars serve as a precipitating factor in glucose intolerance in adults with cystic fibrosis (CF), a population at especially high risk for a unique form of diabetes (CF-related diabetes, CFRD) and with standard-of-care dietary recommendations (high-calorie, high-fat) that conflict with recommendations for other forms of diabetes.\n\nThis trial will investigate if the typical high-sugar, high-fat CF diet plays a role in diabetes risk and visceral fat accumulation in people with CF. A total of 30 participants will get a low-added sugar, high-fat diet and the other 30 will get a standard CF diet with no sugar restrictions. Participants will be randomized to the diet group they are assigned. All foods will be provided for 8 weeks.",[27,180],"Cystic Fibrosis-related Diabetes","2026-06-01",{"date":183,"type":41},"2026-06-03",{"date":185,"type":41},"2023-06-28",{"date":187,"type":22},"2028-06-30",{"name":189,"class":70},"Emory University",{"id":191,"slug":192,"hasResults":12,"nctId":193,"briefTitle":194,"officialTitle":194,"acronym":4,"eligibilityCriteria":195,"healthyVolunteers":12,"sex":17,"minAge":196,"maxAge":19,"enrollmentInfo":197,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":199,"conditions":200,"keywords":205,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":211,"lastUpdatePostDateStruct":212,"startDateStruct":213,"completionDateStruct":215,"leadSponsor":217,"locationsCount":47},"100241172","natural-history-of-noncirrhotic-portal-hypertension-100241172","NCT02417740","Natural History of Noncirrhotic Portal Hypertension","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n* Male or female, aged \\>= 18 years of age, and minors 12-17 years of age.\n* Women of childbearing potential must agree to use birth control unless they are menopausal or had hysterectomy.\n* Known diagnosis of NCPH, or to be at the risk for NCPH by virtue of underlying disease processes such as but not limited to; CGD, SCD, Mastocytosis, CVID, CF, and CHF.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Pregnancy.\n* Evidence of other forms of liver disease that typically result in cirrhosis.\n* Evidence of active Chronic Hepatitis B infection as defined by the presence of hepatitis B surface antigen (HBsAg) in serum and elevated HBV DNA (\\>10,000 IU\u002FmL).\n* Hepatitis C as defined by the presence of hepatitis C RNA in serum.\n* Evidence of other liver disease such as primary sclerosing cholangitis, primary biliary cirrhosis, Wilson s disease, autoimmune hepatitis as defined by either liver histology or laboratory abnormalities.\n* Hemochromatosis as defined by presence of 3+ or 4+ stainable iron on liver biopsy or homozygosity for C282Y. Patients with iron saturation indices of \\>45% and serum ferritin levels of \\>300 ng\u002Fml for men and \\>250 ng\u002Fml for women will undergo genetic testing for hemochromatosis.\n* Bile duct obstruction as suggested by imaging studies done within the previous six months.\n* The presence of cirrhosis confirmed by liver biopsy.\n* Active substance abuse, such as alcohol, inhaled or injection drugs within the previous one year (assessed during subject interviews by subject self-report).\n* Evidence of hepatocellular carcinoma; either alpha-fetoprotein (AFP) levels greater than 50 ng\u002Fml (normal \\\u003C6.6ng\u002Fml) and\u002For ultrasound (or other imaging study) demonstrating a mass suggestive of liver cancer.\n* Evidence of cholangiocarcinoma as suggested by liver histology.\n* Any other severe condition, which in the opinion of the investigators would impede the patient s participation or compliance in the study.\n* Inability to comply or give written informed consent.","12 Years",{"count":198,"type":22},400,"Background:\n\n\\- Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs. Many people may not even know that they have a liver disease. There are no specific treatments for NCPH.\n\nObjectives:\n\n\\- To learn more about how NCPH develops over time.\n\nEligibility:\n\n\\- People age 12 and older who have NCPH or are at risk for getting it. In the past year, they cannot have had other types of liver disease that typically result in cirrhosis, liver cancer, or active substance abuse.\n\nDesign:\n\n* Participants will have 2 screening visits.\n* Visit 1: to see if they have or may develop NCPH.\n* Medical history\n* Physical exam\n* Urine and stool studies\n* Abdominal ultrasound\n* Fibroscan. Sound waves measure liver stiffness.\n\n\\\u003CTAB\\>- Visit 2:\n\n* Blood tests\n* Abdominal MRI\n* Echocardiogram\n* Questionnaire\n* Liver blood vessel pressure (hepatic venous portal gradient (HVPG)) measurement. This is done with a small tube inserted in a neck vein.\n* They may have a liver biopsy.\n* All participants will visit the clinic every 6 months for a history, physical exam, and blood tests. They will also repeat some of the screening tests yearly.\n* Participants with NCPH will also have:\n* Upper endoscopy test. A tube inserted in the mouth goes through the esophagus and stomach.\n* At least every 2 years: Esophagogastroduodenoscopy.\n* At least every 4 years: testing including HVPG measurements and liver biopsy.\n* Participants without NCPH will also have:\n* Liver biopsy and HVPG measurements to see if they have NCPH.\n* Every 2 years: abdominal MRI and stool studies.\n* The study will last indefinitely.",[27,201,202,203,204],"Immunologic Deficiency Syndrome","Turner Syndrome","Congenital Hepatic Fibrosis","Idiopathic Non-Cirrhotic Portal Hypertension",[206,207,208,209,210,36],"Portal Hypertension","Portal Fibrosis","Liver Disease","Varices","Splenomegaly","2026-05-29",{"date":181,"type":41},{"date":214,"type":41},"2015-07-27",{"date":216,"type":22},"2029-09-04",{"name":218,"class":46},"National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)",{"id":220,"slug":221,"hasResults":12,"nctId":222,"briefTitle":223,"officialTitle":223,"acronym":224,"eligibilityCriteria":225,"healthyVolunteers":12,"sex":17,"minAge":111,"maxAge":4,"enrollmentInfo":226,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":228,"conditions":229,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":230,"lastUpdatePostDateStruct":231,"startDateStruct":232,"completionDateStruct":234,"leadSponsor":236,"locationsCount":47},"100298191","rare-cftr-mutation-cell-collection-protocol-rare-100298191","NCT03161808","Rare CFTR Mutation Cell Collection Protocol (RARE)","RARE","Inclusion Criteria:\n\n* Male or female ≥ 17 years of age at time of consent\n* Documentation of a CF diagnosis as evidenced by one or more clinical features consistent with CF and one or more of the following criteria (1. Sweat chloride ≥ 60 milliequivalents\u002FLiter (mEq\u002FL) by quantitative pilocarpineiontophoresis test (QPIT) OR upon permission of the RARE Investigator- Sponsors, 2. Two well-characterized mutations in the cystic fibrosis transmembrane conductive regulator (CFTR) gene, 3.Abnormal nasal potential difference (NPD) (change in NPD in response to a low chloride solution and isoproterenol of lessthan -6.6 mV)\n* Confirmed genotype of the current recruitment focus for certain target rare mutations. The initial recruitment focus will be CF patients who are homozygous for pre-mature stop codons. Operations Memos will detail any future current genotype targets.\n* Written informed consent (and assent when applicable) obtained from participant or participant's legal representative and ability to comply with the requirements of the study.\n* Willing to travel (if needed) to a regional study site for cell collection.\n\nExclusion Criteria:\n\n1. Presence of a medical condition, abnormality, or laboratory value(s) that in the opinion of the onsite principal investigator and\u002For collaborating gastroenterologist may compromise the quality of the data or place the subject at significant risk by undergoing the research related biopsy, including:\n\n   Significantly diseased distal rectal\u002FGI tissue that could place the participant at risk by participating in the study (as judged by the collaborating gastroenterologist, such as significant hemorrhoids, vascular abnormalities, colonic infection, radiation injury or history of radiation therapy to the rectum, prostate and\u002For pelvic area)\n\n   Any of the following abnormal lab values at the study visit:\n\n   i. Platelets \\\u003C 50 x 10\\^3\u002FµL ii. Hemoglobin \\\u003C 10 gm\u002FdL iii. Hematocrit \\\u003C 30% iv. WBC \\> 20 x 10\\^3\u002FµL v. Neutropenia (ANC \\\u003C 1.5 x 10\\^3\u002FµL) vi. Lymphopenia (absolute lymphocyte count \\\u003C 1.5 x 10\\^3\u002FµL) vii. PT\u002FINR \\> 1.5 viii. Other bleeding diathesis\n2. Positive pregnancy test (for female of childbearing potential) at the study visit.\n3. Breastfeeding (if patient opts to use sedation).\n4. Current use of drugs with significant risks of compromising immunity (e.g. oral steroid use \\>20 mg\u002Fday) for \\>14 days prior to the rectal biopsy.\n5. History of organ transplant.\n6. Use of oral anticoagulant medications (e.g., chronic anticoagulant therapy such as warfarin or platelet inactivators such as aspirin) within seven days prior to rectal biopsy.\n7. Unable or unwilling to withhold use of oral anticoagulant medications (e.g., chronic anticoagulant therapy such as warfarin or platelet inactivators such as aspirin) within 7 days after rectal biopsy.",{"count":227,"type":22},500,"Over 1,900 mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein are implicated in causing Cystic Fibrosis (CF). Potential therapies that directly target defective CFTR are being evaluated in important clinical trials, but most target the most common CFTR mutation F508del. Many patients with rare CF mutations are not able to participate in those studies. The RARE study is specifically designed for people with CF caused by rare mutations. Eligible rare mutations are listed below:\n\n• CF patients who are heterozygous for pre-mature stop codons as noted below: i. one allele must be a F508del ii. the other allele must be a pre-mature stop codon mutation\n\n• CF Patients with other genotypes that require Study PI permission: i. CF patients with two mutations that are not eligible for Trikafta ii. CF patients homozygous or heterozygous (other allele must be F508del) for rare mutations of special interest (e.g., 711+3A-\\>G, 2789+5G-\\>A, 3272-26A-\\>G, 3849+10kbC-\\>T). Other rare mutations will be considered on a case by case basis\n\nThis is a multi-site, specimen collection study. Investigators will collect blood, intestinal cells and nasal cells from each participant. Cells from these specimens will be used to test future CFTR modulators to see if they might work for people with study eligible rare mutations. Having cells to test in the lab is an important first step in identifying potential new therapies for people with these mutations.",[27],"2026-05-27",{"date":211,"type":41},{"date":233,"type":41},"2017-10-05",{"date":235,"type":22},"2028-12-01",{"name":237,"class":70},"George Solomon",{"id":239,"slug":240,"hasResults":12,"nctId":241,"briefTitle":242,"officialTitle":243,"acronym":4,"eligibilityCriteria":244,"healthyVolunteers":12,"sex":17,"minAge":245,"maxAge":4,"enrollmentInfo":246,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":248,"conditions":249,"keywords":250,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":256,"lastUpdatePostDateStruct":257,"startDateStruct":259,"completionDateStruct":261,"leadSponsor":263,"locationsCount":265},"100337209","correction-of-nonsense-mutations-in-cystic-fibrosis-100337209","NCT03670472","Correction of Nonsense Mutations in Cystic Fibrosis","Optimization of Correcting Molecules of Nonsense Mutations in Epithelial Cells of the Upper Airways of Patients With Cystic Fibrosis With Nonsense Mutations in the CFTR Gene","Inclusion Criteria:\n\n* Male \u002F female adults and minors aged 8 years and over\n* Patients with cystic fibrosis and carry a nonsense mutation on the 2 alleles of the gene coding for the CFTR channel.\n* Patients whose genotype of patients concerning the CFTR gene is known.\n* Patients with social security\n* Major patients who have given their consent\n* Minor patients with parental authorization\n\nExclusion Criteria:\n\n* Patients who have a mutation other than nonsense in the CFTR gene\n* Patients whose CFTR gene was not sequenced on the 2 alleles\n* Patients not wishing to participate in this study or persons not giving or not able to give consent.\n* Pregnant or lactating women\n* Patients under curatorship or guardianship","8 Years",{"count":247,"type":22},85,"The presence of a nonsense mutation leads to the rapid degradation of the carrier mRNA mutation by a mechanism called NMD (nonsense-mediated mRNA decay) \\[6, 13\\]. There are currently 3 main strategies at least for correcting nonsense mutations: exon skipping, inhibition of NMD and nonsense mutation readthrough.\n\nIn the laboratory, we developed a strategy for correcting nonsense mutations combining inhibition of NMD and activation of translecture. For this purpose, we have constructed screening systems to identify NMD-inhibiting and\u002For readthrough enhancers. The molecules thus identified are then tested on cell lines and in murine models carrying a nonsense mutation.\n\nOne of our goals is to select a set of molecules that can correct effectively nonsense mutations. For this we have to test these molecules on a great diversity of nonsense mutations.\n\nThis work will:\n\n* determine if we can correct all the nonsense mutations tested with at least one of our molecules\n* determine what is common within a group of mutations corrected by a given molecule\n* be able to assign the parameters that make one mutation is corrected by one molecule and not or little by another.\n\nThis study will therefore improve our theoretical knowledge on the recognition of premature stop codons but also to propose therapeutic approaches for the correction of nonsense mutations of the CFTR gene in cystic fibrosis in a targeted way for a patient.",[27],[251,252,253,254,255],"Cystic fibrosis","nonsense mutations","CFTR gene","nasal epithelial cells","nonsense mutation readthrough","2026-05-21",{"date":258,"type":41},"2026-05-22",{"date":260,"type":41},"2016-02-03",{"date":262,"type":22},"2030-01",{"name":264,"class":70},"University Hospital, Lille",8,{"id":267,"slug":268,"hasResults":12,"nctId":269,"briefTitle":270,"officialTitle":271,"acronym":4,"eligibilityCriteria":272,"healthyVolunteers":16,"sex":17,"minAge":273,"maxAge":4,"enrollmentInfo":274,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":276,"conditions":277,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":278,"lastUpdatePostDateStruct":279,"startDateStruct":281,"completionDateStruct":283,"leadSponsor":285,"locationsCount":166},"100362721","role-of-body-fat-distribution-in-metabolic-and-pulmonary-decline-in-cystic-fibrosis-orbit-cf-100362721","NCT04002882","Role of Body Fat Distribution in Metabolic and Pulmonary Decline in Cystic Fibrosis (ORBIT-CF)","Outcomes Related to Body Composition in Teens and Adults With Cystic Fibrosis (ORBIT-CF)","Inclusion Criteria:\n\nCF inclusion criteria\n\n1. confirmed CF diagnosis based on sweat testing by pilocarpine iontophoresis and\u002For CFTR genotyping with two disease causing mutations\n2. be aged ≥ 16 yrs\n3. clinically stable, defined as no changes in medical regimen (including medications) for at least 21 days prior to study visit\n4. participation in the CFF Patient Registry\n\nLongitudinal study inclusion:\n\nCF participants who have normal glucose tolerance results after their initial study oral glucose tolerance test (OGTT).\n\nHealthy controls inclusion criteria:\n\n1. male or female ages 16 years and older\n2. clinically stable. Healthy controls will be recruited who are similar in age, gender, and BMI as the participants with CF.\n\nExclusion Criteria:\n\nCF exclusion criteria:\n\n1. diagnosis of CF-related diabetes (CFRD)\n2. nocturnal tube feeds\n3. life expectancy \\\u003C6 months\n4. history of or on waiting list for lung transplant\n5. un-removable metal that is incompatible with MRI\n6. inability or unwillingness to perform major study activities (OGTT, DEXA, MRI) due to claustrophobia, fear of blood draw, or other reasons\n7. current pregnancy or lactation\n8. study visit falls between window of 1 week to 8 weeks of initiation of CFTR modulator\n9. use of chronic oral corticosteroids,\n10. in the opinion of the CF Care Team or study physician, participant should not participate in the study, or\n11. inability to provide informed consent or assent.\n\nHealthy controls exclusion criteria:\n\n1. malignant neoplasm (other than localized basal cell cancer of the skin) during the previous 5 years\n2. respiratory (including asthma), endocrine (including diabetes), autoimmune, or other chronic disease\n3. HIV or other chronic infection\n4. current use of any medications to treat an acute or chronic disease or illness (anti-depressants, anti-anxiety medications are acceptable),\n5. acute illness within the past 3 weeks\n6. intravenous or oral antibiotics or use of systemic corticosteroids within the past 3 weeks\n7. inability or unwillingness to perform major study activities due to claustrophobia, fear of blood draw, or other reasons\n8. current pregnancy or lactation, or\n9. inability to provide informed consent or assent.","16 Years",{"count":275,"type":22},90,"Nutrition and body composition, the amount of muscle and fat in the body, has a role in overall health. This study wants to learn more about how nutrition and body composition affects health outcomes like glucose tolerance and lung function in patients with cystic fibrosis (CF) who are ages 16-30 years old. 60 adolescents and young adults with CF will be recruited, and 30 volunteers without cystic fibrosis. A total of 40 of these study participants with CF will be asked to return for annual study visits for 2 years after the first visit.\n\nThe long-term goal of this study is to use the information collected to make decisions about future nutrition monitoring and interventions which help maintain optimal health for individuals with CF.",[27],"2026-05-15",{"date":280,"type":41},"2026-05-18",{"date":282,"type":41},"2019-07-08",{"date":284,"type":22},"2027-05",{"name":189,"class":70},{"id":287,"slug":288,"hasResults":12,"nctId":289,"briefTitle":290,"officialTitle":291,"acronym":4,"eligibilityCriteria":292,"healthyVolunteers":16,"sex":17,"minAge":54,"maxAge":293,"enrollmentInfo":294,"targetDuration":4,"studyType":82,"phases":296,"briefSummary":298,"conditions":299,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":300,"lastUpdatePostDateStruct":301,"startDateStruct":302,"completionDateStruct":304,"leadSponsor":306,"locationsCount":47},"100614759","phase-1-dose-escalation-study-evaluating-the-safety-and-pharmacokinetics-of-vx-581-in-healthy-participants-100614759","NCT07283770","Dose Escalation Study Evaluating the Safety and Pharmacokinetics of VX-581 in Healthy Participants","A Phase 1, Randomized, Double-blind, Placebo-controlled, Dose Escalation Study Evaluating Safety and Pharmacokinetics of VX-581 in Healthy Subjects","Key Inclusion Criteria:\n\n* Body mass index (BMI) of 18.0 to 32.0 kilogram per meter square (kg\u002Fm\\^2)\n* A total body weight of more than (\\>) 50 kg\n* Male and Female participants of non-childbearing potential\n\nKey Exclusion Criteria:\n\n* History of febrile illness or other acute illness that has not fully resolved within 14 days before the first dose of study drug\n* Any condition possibly affecting drug absorption\n\nOther protocol defined Inclusion\u002FExclusion criteria may apply.","55 Years",{"count":295,"type":22},128,[297],"PHASE1","The purpose of this study is to evaluate the safety, tolerability, and pharmacokinetics of single and multiple ascending doses of VX-581.",[27],"2026-05-13",{"date":280,"type":41},{"date":303,"type":41},"2025-12-09",{"date":305,"type":22},"2026-11-19",{"name":307,"class":308},"Vertex Pharmaceuticals Incorporated","INDUSTRY",{"id":310,"slug":311,"hasResults":12,"nctId":312,"briefTitle":313,"officialTitle":314,"acronym":4,"eligibilityCriteria":315,"healthyVolunteers":12,"sex":17,"minAge":316,"maxAge":4,"enrollmentInfo":317,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":319,"conditions":320,"keywords":322,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":300,"lastUpdatePostDateStruct":326,"startDateStruct":327,"completionDateStruct":329,"leadSponsor":331,"locationsCount":47},"100460700","trikafta-exercise-study-in-cystic-fibrosis-100460700","NCT05279040","Trikafta Exercise Study in Cystic Fibrosis","Long-term Effects of Elexacaftor\u002FTezacaftor\u002FIvacaftor (Trikafta) on Exertional Symptoms, Exercise Performance, Ventilatory Responses, and Body Composition in Adults With Cystic Fibrosis","Inclusion Criteria:\n\n* Confirmed diagnosis of CF and at least one copy of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene\n* Plan to initiate Trikafta by the treating physician within 30 days of the enrolment visit\n* Aged 19 years or older\n* Stable clinical status based on clinical judgment of the treating physician\n* Forced Expiratory Volume in 1 second (FEV1.0) \\\u003C 90% predicted\n* Body mass index greater than 16 or less than 30 kg\u002Fm\\^2\n* Currently non-smoking or a past smoking history of less than 20 pack-years\n* Able to read and understand English\n* Fully vaccinated (at least 2 doses) for Covid-19\n\nExclusion Criteria:\n\n* A disease other than CF that could importantly contribute to dyspnea or exercise limitation\n* Chronic airway infection with Mycobacterium abscessus, Burkholderia cepacia complex, or other organisms with infection control implications based on the treating physicians\n* Contraindications to clinical exercise testing\n* Use of supplemental oxygen or desaturation less than 85% with exercise\n* Diagnosis of pneumothorax in the past 4 weeks\n* History of organ transplantation","19 Years",{"count":318,"type":22},20,"Shortness of breath (dyspnea) during exercise is a major source of distress and is a commonly reported symptom in patients with cystic fibrosis (CF). A recent drug treatment option known as Trikafta, which contains elexacaftor, tezacaftor, and ivacaftor, may be used in patients with CF to help improve lung health. However, the effects of this combination therapy on dyspnea and exercise performance, a known predictor of survival in CF, are not clear. The investigators aim to understand the effects of Trikafta on these symptoms and to gain new insight into the potential health improvements in CF from using this treatment option.",[27,321],"Lung Diseases",[323,324,325],"Dyspnea","Exercise","Trikafta",{"date":280,"type":41},{"date":328,"type":41},"2021-11-10",{"date":330,"type":22},"2027-01",{"name":332,"class":70},"University of British Columbia",{"id":334,"slug":335,"hasResults":12,"nctId":336,"briefTitle":337,"officialTitle":338,"acronym":4,"eligibilityCriteria":339,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":4,"enrollmentInfo":340,"targetDuration":4,"studyType":82,"phases":341,"briefSummary":343,"conditions":344,"keywords":348,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":300,"lastUpdatePostDateStruct":353,"startDateStruct":354,"completionDateStruct":356,"leadSponsor":357,"locationsCount":166},"100418635","phase-2-glp-1-agonist-therapy-in-cystic-fibrosis-related-glucose-intolerance-100418635","NCT04731272","GLP-1 Agonist Therapy in Cystic Fibrosis-Related Glucose Intolerance","Effect of GLP-1 Agonist Therapy on Insulin Secretion in Adults With Pancreatic Insufficient Cystic Fibrosis and Abnormal Glucose Tolerance: a Randomized, Open-label, Cross-over Trial","Inclusion Criteria:\n\n* 1\\. Male or female, aged ≥18 years on date of consent\n* 2\\. Confirmed diagnosis of CF, defined by positive sweat test or Cystic Fibrosis transmembrane conductance regulator (CFTR) mutation analysis according to Cystic Fibrosis Foundation (CFF) diagnostic criteria.\n* 3\\. Pancreatic insufficiency defined by clinical requirement for pancreatic enzyme replacement.\n* 4\\. Abnormal glucose tolerance defined by OGTT criteria for EGI, IGT, or CFRD, or diagnosed CFRD.\n\n  1. There will be no restriction on enrollment of individuals with CFRD but without fasting hyperglycemia (fasting hyperglycemia is defined as fasting glucose ≥126 mg\u002FdL)\n  2. Individuals with CFRD and fasting hyperglycemia (defined as above or by the use of basal insulin therapy) must also have a HbA1c ≤8% and a random (non-fasting) C-peptide ≥1.2 ng\u002FmL17; enrollment of this subgroup will be limited to n =10.\n* 5\\. Ability to take subcutaneous medication and be willing to adhere to the weekly administration regimen and complete study specific procedures (MMTT)\n* 6\\. For females of reproductive potential: use of highly effective contraception for at least 1 month prior to screening and agreement to use such a method during study participation and for an additional 6 weeks after the end of dulaglutide or observation administration; oral contraceptives, intra-uterine devices, Norplant®, Depo-Provera®, and barrier devices with spermicide are acceptable contraceptive methods; condoms used alone are not acceptable\n\nExclusion Criteria:\n\n* 1\\. BMI \\\u003C19 kg\u002Fm2\n* 2\\. Presence of first-degree atrioventricular block or other evidence for cardiac conduction system or structural heart defects\n* 3\\. Pregnancy or lactation; a negative urine pregnancy test will be required at enrollment\n* 4\\. Known allergic reactions to any GLP-1 agonist, and any history of severe hypersensitivity reactions (anaphylaxis or angioedema)\n* 5\\. Personal or family history of medullary thyroid cancer or multiple endocrine neoplasia syndrome type 2 (MEN2)\n* 6\\. Pulmonary exacerbation requiring IV antibiotics or systemic glucocorticoids within 4 weeks prior to study procedures\n* 7\\. Gastrointestinal symptom exacerbation defined by current nausea\u002Fvomiting or diarrhea\n* 8\\. Established diagnosis of non-CF diabetes (e.g. type 1 diabetes) or CFRD with fasting hyperglycemia (fasting glucose ≥126 mg\u002FdL \\[use of prandial insulin or repaglinide will be permitted\\])\n* 9\\. History of clinically symptomatic pancreatitis within the last year\n* 10\\. Prior lung, liver or other solid organ transplant\n* 11\\. Severe CF liver disease, as defined by the presence of portal hypertension\n* 12\\. History of fundoplication-related dumping syndrome\n* 13\\. Hemoglobin \\\u003C10 g\u002FdL, within 90 days of study procedures or at screening\n* 14\\. Abnormal renal function, within 90 days of study procedures or at screening; defined as creatinine \\>2x upper limit of normal (ULN) or potassium \\>5.5mEq\u002FL on non-hemolyzed specimen\n* 15\\. History of any illness or condition that, in the opinion of the investigator might confound the results of the study or pose an additional risk to the subject",{"count":57,"type":22},[342],"PHASE2","Diabetes is a major co-morbidity in pancreatic insufficient cystic fibrosis (PI-CF) and associated with worse outcomes. While reduced β-cell mass contributes to the insulin secretory defects that characterizes cystic fibrosis-related diabetes (CFRD), other modifiable determinants appear operative in the emergence and progression of abnormal glucose tolerance towards diabetes. Identifying interventions to preserve β-cell function are crucial for delaying and potentially preventing CFRD development. In this study, we hypothesize that weekly administration of the long-acting glucagon-like peptide-1 (GLP-1) agonist dulaglutide will improve defective early-phase insulin secretion and improve glucose tolerance during a mixed-meal tolerance test.",[27,345,346,347],"Pancreatic Insufficiency","Abnormal Glucose Tolerance","Diabetes",[349,350,351,352],"Cystic Fibrosis Related Diabetes","Glucose Intolerance","Insulin Secretion","Glucagon-Like Peptide-1 (GLP-1)",{"date":280,"type":41},{"date":355,"type":41},"2021-07-16",{"date":187,"type":22},{"name":358,"class":70},"University of Pennsylvania",{"id":360,"slug":361,"hasResults":12,"nctId":362,"briefTitle":363,"officialTitle":364,"acronym":4,"eligibilityCriteria":365,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":4,"enrollmentInfo":366,"targetDuration":4,"studyType":82,"phases":368,"briefSummary":369,"conditions":370,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":371,"lastUpdatePostDateStruct":372,"startDateStruct":374,"completionDateStruct":376,"leadSponsor":378,"locationsCount":380},"100549066","phase-2-safety-tolerability-pharmacokinetics-and-preliminary-efficacy-of-spl84-in-patients-with-cystic-fibrosis-100549066","NCT06429176","Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of SPL84 in Patients With Cystic Fibrosis","A Phase 2a, Randomized, Placebo-Controlled, Double Blind Multiple Ascending Dose Study in Patients With Cystic Fibrosis Carrying the 3849 +10 Kb C->T Mutation to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of SPL84","Cohort 1-3:\n\nInclusion Criteria:\n\n* Diagnosis of CF and two CF causing mutations; 3849+10 Kb C-\\>T mutation on one allele in the CF transmembrane conductance regulator (CFTR) gene (homozygote or compound heterozygote). Source documentation from a certified genetic laboratory is required.\n* Body mass index (BMI) of ≥ 17 kg\u002Fm2.\n* FEV1 40-90% predicted at screening.\n* Non-smokers or vapers for at least 180 days (6 months) prior to screening, per participant report.\n\nExclusion Criteria:\n\n* Use of Kalydeco, Orkambi, Symdeko\u002FSymkevi or Trikafta\u002FKaftrio within 30 days of first dose with study intervention.\n* Use of any investigational drug (other than SPL84) or device within 30 days of first dose with study intervention.\n* Use of systemic steroids over 3 consecutive months in the last 6 months prior to screening, or use of systemic steroids in the last month prior to screening. Use of inhaled steroids above 1 mg.\n* Use of CF medications, e.g. inhaled antibiotics, dornase alfa (Pulmozyme), hypertonic saline and physiotherapy should be on stable regimen for the period 28 days prior to screening; those participants taking inhaled antibiotics for prophylaxis must be on a stable regimen of these drugs for at least 90 days prior to first dose with study intervention.\n* Any acute infection including acute upper respiratory or lower respiratory infections, pulmonary exacerbation, changes in therapy for pulmonary disease, or any non CF-related illness which results in the initiation of any new therapy within 14 days prior to first dose with study intervention.\n* Hemoptysis of greater than 30 mL within 90 days prior to Day 1, or hospitalization for hemoptysis within 6 months of first dose with study intervention.\n* Liver disease characterized by clinically significant cirrhosis and\u002For documented portal hypertension.\n* History of any organ transplantation.\n* Documented coronavirus disease (COVID-19) infection within 4 weeks prior to dosing.\n\nCohort 4:\n\nInclusion Criteria:\n\n* Diagnosis of CF and two CF causing mutations; 3849+10 Kb C-\\>T mutation on one allele in the CF transmembrane conductance regulator (CFTR) gene (homozygote or compound heterozygote). Source documentation from a certified genetic laboratory is required.\n* Body mass index (BMI) of ≥ 17 kg\u002Fm2.\n* FEV1 40-80% predicted at screening.\n* Non-smokers or vapers for at least 180 days (6 months) prior to screening, per participant report.\n* Stable adherence to standard use of Trikafta\u002FKaftio or Alyftrek for at least 3 months, or Alyftrek for 1 month after switching from Trikafta\u002FKaftio, according to prescribing information.\n\nExclusion Criteria:\n\n* Previous participation in active arm of SPL84-002 study (Cohort 1-3)\n* Use of any investigational drug (other than SPL84) or device within 30 days of first dose with study intervention.\n* Use of systemic steroids over 3 consecutive months in the last 6 months prior to screening, or use of systemic steroids in the last month prior to screening. Use of inhaled steroids above 1 mg.\n* Use of CF medications, e.g. inhaled antibiotics, dornase alfa (Pulmozyme), hypertonic saline and physiotherapy should be on stable regimen for the period 28 days prior to screening; those participants taking inhaled antibiotics for prophylaxis must be on a stable regimen of these drugs for at least 90 days prior to first dose with study intervention.\n* Any acute infection including acute upper respiratory or lower respiratory infections, pulmonary exacerbation, changes in therapy for pulmonary disease, or any non CF-related illness which results in the initiation of any new therapy within 14 days prior to first dose with study intervention.\n* Hemoptysis of greater than 30 mL within 90 days prior to Day 1, or hospitalization for hemoptysis within 6 months of first dose with study intervention.\n* Liver disease characterized by clinically significant cirrhosis and\u002For documented portal hypertension.\n* History of any organ transplantation.\n* Documented coronavirus disease (COVID-19) infection within 4 weeks prior to dosing.",{"count":367,"type":22},64,[342],"The goal of this clinical trial is to learn if drug SPL84 is safe for adult patients with cystic fibrosis (CF). It will also learn if the drug works to treat works to treat CF with a specific mutation (3849 +10kb C--\\>T).\n\nThe purpose of this research study is to test the safety and effectiveness of multiple doses of the study drug, SPL84.\n\nResearchers will compare drug SPL84 to a placebo (a look-alike substance that contains no drug) to see if drug SPL84 is safe and if it works to treat CF. In cohorts 1-3, SPL84 will be tested as a monotherapy, and in Cohort 4, SPL84 will be tested in participants who are already stable on CFTR modulator therapy.\n\nParticipants will take drug SPL84 or a placebo by inhalation every week for 9 weeks (cohorts 1-3) or 12 weeks (cohort 4) and visit the clinic approximately weekly for checkups and tests.",[27],"2026-05-11",{"date":373,"type":41},"2026-05-14",{"date":375,"type":41},"2024-06-24",{"date":377,"type":22},"2027-12-31",{"name":379,"class":308},"SpliSense Ltd.",3,{"id":382,"slug":383,"hasResults":12,"nctId":384,"briefTitle":385,"officialTitle":386,"acronym":387,"eligibilityCriteria":388,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":4,"enrollmentInfo":389,"targetDuration":4,"studyType":82,"phases":390,"briefSummary":391,"conditions":392,"keywords":394,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":397,"lastUpdatePostDateStruct":398,"startDateStruct":400,"completionDateStruct":402,"leadSponsor":404,"locationsCount":406},"100573559","phase-2-safety-tolerability-and-efficacy-study-of-arct-032-in-people-with-cystic-fibrosis-100573559","NCT06747858","Safety, Tolerability and Efficacy Study of ARCT-032 in People With Cystic Fibrosis","A Phase 2, Open-label, Multiple Ascending-Dose Study to Evaluate the Safety, Tolerability and Efficacy of ARCT-032 in People With Cystic Fibrosis","LunairCF","Key Inclusion Criteria:\n\n1. Confirmed diagnosis of Cystic Fibrosis\n2. Not eligible for CFTR modulator therapy or not taking CFTR modulators for at least 60 days prior to dosing (e.g. due to intolerance, poor response, or lack of access to modulators)\n3. FEV1 between 40% to 100% (cohorts 1-3) and 45% to 90% (cohort 4, inclusive) of predicted value for age, sex and height\n\nExclusion Criteria:\n\n1. History of illness or medical condition that might pose an additional risk or may confound study results\n2. Recent moderate or severe hemoptysis\n3. Recent major surgery\n4. Solid organ or hematologic transplant\n5. Requirement of supplemental oxygen while awake or \\> 2L per minute while sleeping.\n6. Chronic maintenance systemic corticosteroids exceeding equivalent of daily 15 mg oral prednisone or 30 mg every other day\n7. Adequate liver and kidney function as determined by lab tests",{"count":101,"type":22},[342],"ARCT-032-02 is a Phase 2, open-label, multicenter, multiple-ascending dose study of ARCT-032 in adults with CF who are not eligible for CFTR modulator therapy or are not taking CFTR modulators due to drug intolerance, poor response, or lack of access to modulators.",[27,393],"CFTR Gene Mutation",[395,396],"CFTR","mRNA","2026-05-06",{"date":399,"type":41},"2026-05-08",{"date":401,"type":41},"2024-12-12",{"date":403,"type":22},"2027-06",{"name":405,"class":308},"Arcturus Therapeutics, Inc.",13,{"id":408,"slug":409,"hasResults":12,"nctId":410,"briefTitle":411,"officialTitle":411,"acronym":4,"eligibilityCriteria":412,"healthyVolunteers":12,"sex":17,"minAge":143,"maxAge":245,"enrollmentInfo":413,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":415,"conditions":416,"keywords":421,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":397,"lastUpdatePostDateStruct":424,"startDateStruct":425,"completionDateStruct":427,"leadSponsor":429,"locationsCount":431},"100530811","sinus-disease-in-young-children-with-cystic-fibrosis-100530811","NCT06191640","Sinus Disease in Young Children With Cystic Fibrosis","Inclusion Criteria:\n\nHEMT Group:\n\n* Children with documentation of a CF diagnosis\n* Age 2-8 years old at first study visit\n* CFTR mutation consistent with FDA labeled indication of highly effective modulator therapy (ivacaftor or elexacaftor\u002Ftezacaftor\u002Fivacaftor)\n* Clinician intent to prescribe ivacaftor or ETI so that enrollment is before start of HEMT\n\nNon-HEMT\u002FControl Group:\n\n* Children with documentation of a CF diagnosis\n* Age 2-8 years at first study visit\n* Ineligible for highly effective modulator therapy (ivacaftor or elexacaftor\u002Ftezacaftor\u002Fivacaftor) based on CFTR mutation or clinical decision not to initiate HEMT if eligible\n\nExclusion Criteria:\n\nFor Both Groups:\n\n* Use of an investigational drug within 28 days prior to the first study visit\n* Use of ivacaftor or elexacaftor\u002Ftezacaftor\u002Fivacaftor within the 180 days prior to and including the first study visit\n* Use of chronic oral corticosteroids within the 28 days prior to and including the first study visit.\n* Sinus surgery within 180 days prior to the first study visit",{"count":414,"type":22},80,"This is a prospective, observational study examining the impact of highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators on chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) in young children with cystic fibrosis (YCwCF). This study involves two groups: children 2-8 years old, inclusive at initial visit, receiving highly effective modulator therapy (HEMT), and a control group of children 2-8 years old, inclusive at initial visit, not receiving HEMT. Outcomes will include sinus magnetic resonance imaging (MRI) scans, olfactory tests, and quality of life surveys obtained over a two-year period.",[417,27,418,419,420],"Cystic Fibrosis in Children","Chronic Rhinosinusitis (Diagnosis)","Olfactory Disorder","Olfactory Impairment",[27,422,423],"Chronic Rhinosinusitis","Olfactory Dysfunction",{"date":371,"type":41},{"date":426,"type":41},"2023-04-12",{"date":428,"type":22},"2029-06-30",{"name":430,"class":70},"University of California, Los Angeles",6,{"id":433,"slug":434,"hasResults":12,"nctId":435,"briefTitle":436,"officialTitle":437,"acronym":4,"eligibilityCriteria":438,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":4,"enrollmentInfo":439,"targetDuration":4,"studyType":82,"phases":440,"briefSummary":441,"conditions":442,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":443,"lastUpdatePostDateStruct":444,"startDateStruct":446,"completionDateStruct":448,"leadSponsor":450,"locationsCount":431},"100478043","phase-1-a-study-assessing-kb407-for-the-treatment-of-cystic-fibrosis-100478043","NCT05504837","A Study Assessing KB407 for the Treatment of Cystic Fibrosis","KB407-02 A Phase 1 Study of Inhaled KB407, a Replication-Defective, Non-Integrating Vector Expressing Human Cystic Fibrosis Transmembrane Conductance Regulator, for the Treatment of Cystic Fibrosis","Inclusion Criteria:\n\n1. The subject must have read, understood, and signed an Institutional Review Board\u002FEthics Committee (IRB\u002FIEC) approved Informed Consent Form and must be able to and willing to follow study procedures and instructions\n2. Subjects aged 18 years or older at the time of Informed Consent\n3. A confirmed diagnosis of CF as defined by clinical signs and symptoms of CF and at least one of the following:\n\n   * A historical sweat chloride value \\>60 mmol\u002FL\n   * Two copies of a disease causing mutation in the CFTR gene\n4. Clinically stable in the opinion of the Investigator\n5. Percent predicted FEV1 ≥40% and ≤90% of the predicted normal for age, gender, and height at Screening\n6. Resting oxygen saturation ≥92% on room air at Screening\n\nExclusion Criteria:\n\n1. Initiation of any new chronic therapy (eg, CFTR modulator, hypertonic saline, inhaled antibiotic) or any change in chronic therapy (excluding pancreatic enzyme replacement therapy) within 28 days prior to the first dose\n2. Hospitalization, sinopulmonary infection, CF exacerbation, or other clinically significant infection or illness 14 days prior to the first dose that, in the opinion of the Investigator, may confound study results\n3. Treatment for Mycobacterium abscessus within 3 months prior to the first dose or more than two pulmonary exacerbations with a history of Burkholderia cenocepacia infection within 6 months prior to the first dose\n4. Participation in another clinical study or treatment with an investigational agent 30 days or 5 half-lives, whichever is longer, prior to the first dose\n5. History of or listed for solid organ transplantation\n6. Any condition (including a history or current evidence of substance abuse or dependence, uncontrolled asthma, or is considered to be immunocompromised) that, in the opinion of the Investigator, would impact a subject's ability to complete all study-related procedures and\u002For poses an additional risk to the assessment of safety of KB407\n7. An active oral herpes infection 30 days prior to the first dose\n8. Women who are pregnant or nursing\n9. Subject who is unwilling to comply with contraception requirements per protocol\n10. Clinically significant abnormalities of hematology or chemistry testing at Screening that the Investigator believes may interfere with the assessment of safety and\u002For efficacy of the study treatment\n11. Subject has a known hypersensitivity to inhaled glycerol\n12. Subject is known to be noncompliant or is unlikely to comply with the requirements of the study protocol in the opinion of the Investigator\n13. Bronchoscopy participants only: Unable to tolerate bronchoscopy procedure and airway sampling, in the opinion of the Investigator\n14. Cohort 4 participants only: Subjects who are ineligible for, do not tolerate, or do not benefit from modulator therapy",{"count":318,"type":22},[297],"This study will evaluate safety and tolerability of ascending doses of nebulized KB407 in adults with cystic fibrosis.",[27],"2026-05-01",{"date":445,"type":41},"2026-05-07",{"date":447,"type":41},"2023-06-30",{"date":449,"type":22},"2027-03",{"name":451,"class":308},"Krystal Biotech, Inc.",{"id":453,"slug":454,"hasResults":12,"nctId":455,"briefTitle":456,"officialTitle":456,"acronym":4,"eligibilityCriteria":457,"healthyVolunteers":16,"sex":17,"minAge":79,"maxAge":4,"enrollmentInfo":458,"targetDuration":4,"studyType":82,"phases":460,"briefSummary":461,"conditions":462,"keywords":468,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":470,"lastUpdatePostDateStruct":471,"startDateStruct":472,"completionDateStruct":474,"leadSponsor":476,"locationsCount":47},"100410437","phase-1-hyperpolarized-129xe-mr-imaging-of-lung-function-in-healthy-volunteers-and-subjects-with-pulmonary-disease-100410437","NCT04624490","Hyperpolarized 129Xe MR Imaging of Lung Function in Healthy Volunteers and Subjects With Pulmonary Disease","Inclusion Criteria:\n\nHealthy Volunteers:\n\n* Subject has no diagnosed pulmonary conditions\n* Ability to read and understand English or Spanish\n\nSubjects with Lung Disease:\n\n* Subject has a diagnosis of pulmonary dysfunction made by a physician\n* No acute worsening of pulmonary function in the past 30 days\n* Ability to read and understand English or Spanish\n\nExclusion Criteria:\n\n* MRI is contraindicated based on responses to MRI screening questionnaire\n* Subject is pregnant or lactating\n* Subject does not fit into 129Xe vest coil used for MRI\n* Subject cannot hold his\u002Fher breath for 15-16 seconds\n* Subject deemed unlikely to be able to comply with instructions during imaging\n* Oxygen saturation \\\u003C88% on room air or with supplemental oxygen\n* Cognitive deficits that preclude ability to provide consent\n* Institutionalization",{"count":459,"type":22},260,[297],"The purpose of this study is to develop and evaluate the usefulness of hyperpolarized (HP) 129Xe gas MRI for regional assessment of pulmonary function.",[151,463,464,27,465,466,467],"COPD","Interstitial Lung Disease","Pulmonary Hypertension","Pulmonary Infection","Other Lung Disease",[469],"Hyperpolarized 129Xe MRI","2026-04-30",{"date":397,"type":41},{"date":473,"type":41},"2020-11-02",{"date":475,"type":22},"2028-10-26",{"name":477,"class":70},"Mario Castro, MD, MPH",{"id":479,"slug":480,"hasResults":12,"nctId":481,"briefTitle":482,"officialTitle":482,"acronym":4,"eligibilityCriteria":483,"healthyVolunteers":16,"sex":17,"minAge":54,"maxAge":484,"enrollmentInfo":485,"targetDuration":4,"studyType":82,"phases":487,"briefSummary":489,"conditions":490,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":470,"lastUpdatePostDateStruct":491,"startDateStruct":493,"completionDateStruct":495,"leadSponsor":497,"locationsCount":47},"100356442","phase-4-markers-of-osteoporosis-in-cystic-fibrosis-100356442","NCT03921060","Markers of Osteoporosis in Cystic Fibrosis","Cystic Fibrosis Main Study Inclusion Criteria:\n\n* Must have CF diagnosis confirmed by sweat test or genotype analysis\n* Subjects (and parents\u002Flegal guardians as applicable) must have the ability to read and write in English\n\nSub-study Exclusion Criteria:\n\n* No CF diagnosis\n* Men or women without osteoporosis\n* Less than 18 years of age\n* Unwilling to return annually for study visits for up to 5 years\n* Unwilling and\u002For medically unable to take denosumab","64 Years",{"count":486,"type":22},100,[488],"PHASE4","Main Study Up to 100 subjects, both non-CF volunteers and Cystic Fibrosis (CF) patients, will participate in a single study visit that will include a DEXA scan, micro CT, and blood collection.\n\nDenosumab (Prolia) Sub study Approximately 10 adult subjects with CF who participated in the main study and have results indicating bone disease will receive treatment with Denosumab for up to 5 years. They will be asked to return for repeat DEXA scans, micro CT, blood collection, and documenting of any adverse events.",[27],{"date":492,"type":41},"2026-05-05",{"date":494,"type":41},"2021-09-02",{"date":496,"type":22},"2027-07",{"name":498,"class":70},"University of Texas Southwestern Medical Center",{"id":500,"slug":501,"hasResults":12,"nctId":502,"briefTitle":503,"officialTitle":504,"acronym":505,"eligibilityCriteria":506,"healthyVolunteers":12,"sex":507,"minAge":54,"maxAge":4,"enrollmentInfo":508,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":510,"conditions":511,"keywords":526,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":540,"lastUpdatePostDateStruct":541,"startDateStruct":543,"completionDateStruct":545,"leadSponsor":546,"locationsCount":47},"100527411","development-of-non-invasive-prenatal-diagnosis-for-single-gene-disorders-100527411","NCT06147414","Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","DANNIgene","Inclusion Criteria:\n\n* pregnant woman with 9 weeks of amenorrhea or more\n* singleton pregnancy\n* undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK\n* germinal pathogenic paternal and\u002For maternal mutations previously identified\n* age 18 years old or over\n* signing an informed consent\n\nExclusion Criteria:\n\n* at risk of SGD involving a de novo pathogenic mutation in a previous child\n* woman under legal protection","FEMALE",{"count":509,"type":22},550,"Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting.\n\nThe present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.",[512,513,27,514,515,516,517,518,519,520,521,522,523,524,525],"Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including","Sickle Cell Disease","Fragile X Syndrome","Proximal Spinal Muscular Atrophy","Myotonic Dystrophy","Muscular Dystrophy, Duchenne","Muscular Dystrophy, Becker","Neurofibromatosis-Noonan Syndrome","Huntington Disease","Hemophilia A","Hemophilia B","MODY2 Diabetes","X-Linked Hydrocephalus","Autosomal Recessive Polycystic Kidney Disease",[527,528,529,530,531,532,533,534,535,536,537,538,539],"Gene HBB","Gene CFTR","Gene FMR1","Gene SMN1","Gene DMPK","Gene DMD","Gene NF1","Gene HTT","Gene F8","Gene F9","Gene GCK","Gene L1CAM","Gene PKHD1","2026-04-20",{"date":542,"type":41},"2026-04-23",{"date":544,"type":41},"2024-10-23",{"date":284,"type":22},{"name":547,"class":70},"Assistance Publique - Hôpitaux de Paris",{"id":549,"slug":550,"hasResults":12,"nctId":551,"briefTitle":552,"officialTitle":553,"acronym":4,"eligibilityCriteria":554,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":55,"enrollmentInfo":555,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":557,"conditions":558,"keywords":559,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":561,"lastUpdatePostDateStruct":562,"startDateStruct":564,"completionDateStruct":566,"leadSponsor":568,"locationsCount":569},"100398538","impact-of-sinus-surgery-on-individuals-with-cystic-fibrosis-100398538","NCT04469439","Impact of Sinus Surgery on Individuals With Cystic Fibrosis","The Impact of Sinus Surgery in the Era of Highly Effective Modulatory Therapy","Inclusion Criteria:\n\n1. Subjects between the ages of 18 years old (inclusive) and 99 years old (inclusive, subjects over the age of 89 will be recorded to be 89 years old).\n2. Diagnosed with cystic fibrosis as established by genetic testing combined with clinical assessment and\u002For sweat chloride\n3. Diagnosed with chronic rhinosinusitis by multidisciplinary sinusitis guidelines\n4. chronic rhinosinusitis symptoms persisting beyond initial medical treatment\n5. Counseled for endoscopic sinus surgery and ongoing medical therapy with each patient electing their preferred treatment\n\nExclusion Criteria:\n\n1. Underwent endoscopic sinus surgery in past 12 months\n2. Will obtain follow up care at non-participating institutions\n3. Unable to complete follow-up surveys",{"count":556,"type":22},170,"This study will be a prospective, observational study of patients who undergo endoscopic sinus surgery for cystic fibrosis-related chronic rhinosinusitis (CRS). Individuals who do not undergo surgery but are treated medically for CRS will also be enrolled to serve as a control group. Outcomes analyzed will include pulmonary, quality of life, and others.",[418,27],[422,27,560],"Endoscopic Sinus Surgery","2026-04-17",{"date":563,"type":41},"2026-04-22",{"date":565,"type":41},"2020-07-01",{"date":567,"type":22},"2027-01-31",{"name":430,"class":70},9,{"id":571,"slug":572,"hasResults":12,"nctId":573,"briefTitle":574,"officialTitle":575,"acronym":4,"eligibilityCriteria":576,"healthyVolunteers":12,"sex":17,"minAge":577,"maxAge":54,"enrollmentInfo":578,"targetDuration":4,"studyType":82,"phases":579,"briefSummary":581,"conditions":582,"keywords":584,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":588,"lastUpdatePostDateStruct":589,"startDateStruct":591,"completionDateStruct":593,"leadSponsor":595,"locationsCount":47},"100547853","phase-2-maralixibat-in-patients-with-cystic-fibrosis-and-constipation-100547853","NCT06413368","Maralixibat in Patients With Cystic Fibrosis and Constipation","Maralixibat in Patients With Cystic Fibrosis and Constipation, A Within-Subjects Pilot Study","Inclusion Criteria\n\n* Ages 1 to 18 years.\n* Proven diagnosis of Cystic Fibrosis confirmed by genetic testing or sweat chloride testing.\n* Proven diagnosis of chronic constipation, defined as a Bristol Stool Scale (BSS) score \\\u003C3 while on a stable conventional constipation therapy regimen.\n* Stable conventional constipation medication regimen (no medication changes or dose adjustments) for at least 4 weeks prior to enrollment. Conventional therapy may include stool softeners, stimulant laxatives, or dietary interventions.\n\nExclusion Criteria\n\n* Uncontrolled fat-soluble vitamin deficiency (Vitamin A, D, E, or K).\n* Changes to conventional constipation medication regimen within 4 weeks prior to initiation of Maralixibat.\n* Adequately treated chronic constipation, defined as a Bristol Stool Scale (BSS) score \\>3 on the current regimen.\n* Known allergy or sensitivity to Maralixibat or any study-related ingredients.\n* Inability or unwillingness of the participant or legal guardian\u002Frepresentative to provide written informed consent.","1 Year",{"count":318,"type":22},[342,580],"PHASE3","Chronic constipation is common in children with cystic fibrosis (CF), likely due to impaired chloride channel function that reduces intestinal secretions. Standard osmotic laxatives often provide inadequate relief in this population.\n\nMaralixibat is an ileal bile acid transporter inhibitor (IBATi) that increases the amount of bile acids reaching the colon. Bile acids can enhance intestinal secretion, reduce transit time, and soften stool. This study will evaluate whether Maralixibat improves stool consistency in children with CF who experience constipation.\n\nWe will enroll 20 children with CF and constipation, defined as a Bristol Stool Scale score \\\u003C4 for at least one week while on a stable laxative regimen. Each participant will receive Maralixibat for two weeks in addition to their usual laxatives. Families will record stool consistency and ease of defecation before and during treatment.\n\nThe primary objective is to determine whether Maralixibat improves stool consistency to a Bristol Stool Scale score \\>4. The secondary objective is to assess changes in ease of defecation using standardized questionnaires.",[583,27],"Constipation Chronic Idiopathic",[585,27,586,587],"Maralixibiat","Chronic Constipation","Bristol Stool","2026-04-16",{"date":590,"type":41},"2026-04-21",{"date":592,"type":41},"2025-04-09",{"date":594,"type":22},"2027-06-30",{"name":596,"class":70},"Children's Hospital Los Angeles",{"id":598,"slug":599,"hasResults":12,"nctId":600,"briefTitle":601,"officialTitle":602,"acronym":4,"eligibilityCriteria":603,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":4,"enrollmentInfo":604,"targetDuration":4,"studyType":82,"phases":605,"briefSummary":606,"conditions":607,"keywords":608,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":610,"lastUpdatePostDateStruct":611,"startDateStruct":613,"completionDateStruct":615,"leadSponsor":617,"locationsCount":47},"100403214","phase-2-metformin-for-people-with-cfrd-on-cftr-modulator-therapy-to-improve-ion-channel-function-100403214","NCT04530383","Metformin for People With CFRD on CFTR Modulator Therapy to Improve Ion Channel Function","An Open Label Clinical Trial of Metformin in Those With CFRD on CFTR Modulator Therapy to Improve Ion Channel Function","Inclusion criteria:\n\n1. Age \\>18 years with a prior diagnosis of CF.\n2. Use of ivacaftor or elexacaftor\u002Ftezacaftor\u002Fivacaftor or vanzacaftor\u002Ftezacaftor\u002Fdeutivacaftor for 30 days prior to day 0\n3. Diagnosis of CFRD with evidence of continued glucose intolerance at least 6 months after starting qualifying modulator therapy will be based upon one of the following:\n\n   1. Insulin use\n   2. Hemoglobin A1C \\>6.5%\n   3. Fasting glucose \\>126 mg\u002Fdl\n   4. Non-fasting glucose \\>200 mg\u002Fdl (random or as part of a 2-hr OGTT)\n\nExclusion criteria:\n\n1. Prior lung or liver transplant\n2. Use of supplemental oxygen\n3. BMI \\\u003C18\n4. CF pulmonary exacerbation requiring hospitalization or intravenous antibiotics in the preceding 30 days\n5. Systemic corticosteroid or regular non-steroidal anti-inflammatory use in the preceding 30 days\n6. Cardiac, renal (creatinine clearance \\\u003C45 mL\u002Fminute), neurologic, psychiatric, endocrine or neoplastic diseases that are judged to interfere with participation in the study\n7. Alanine aminotransferase, aspartate aminotransferase or alkaline phosphatase \\>1.5X the upper limit of normal; bilirubin \\>3 mg\u002FdL\n8. Taking medications that interact with metformin.\n9. Vitamin B12 deficiency\n10. Pregnancy or lactation\n11. Inability or unwillingness to comply with an approved contraceptive method during the study period (females of childbearing age)\n12. Use of medications known to be strong CYP inducers or moderate to strong CYP inhibitors\n13. In the opinion of the investigator any severe or acute or chronic condition or laboratory abnormality that may increase the risk associated with trial participation or make the subject inappropriate for enrollment\n14. Participation in another interventional trial that, in the opinion of the investigator, has the potential to affect the primary outcome",{"count":57,"type":22},[342],"The purpose of this study is to assess the efficacy of metformin to improve airway ion channel function in those with CF-related diabetes (CFRD)",[180,27],[609],"Metformin","2026-04-10",{"date":612,"type":41},"2026-04-15",{"date":614,"type":41},"2022-02-14",{"date":616,"type":22},"2028-07-15",{"name":618,"class":70},"University of Kansas Medical Center",{"id":620,"slug":621,"hasResults":12,"nctId":622,"briefTitle":623,"officialTitle":624,"acronym":4,"eligibilityCriteria":625,"healthyVolunteers":12,"sex":17,"minAge":273,"maxAge":626,"enrollmentInfo":627,"targetDuration":4,"studyType":82,"phases":629,"briefSummary":630,"conditions":631,"keywords":632,"overallStatus":634,"whyStopped":4,"lastUpdateSubmitDate":635,"lastUpdatePostDateStruct":636,"startDateStruct":638,"completionDateStruct":640,"leadSponsor":641,"locationsCount":47},"100632882","effects-of-high-frequency-chest-wall-oscillation-combined-with-concurrent-training-on-coughin-cystic-fibrosis-patients-100632882","NCT07519460","Effects of High-Frequency Chest Wall Oscillation Combined With Concurrent Training on Cough,in Cystic Fibrosis Patients","Effects of High-Frequency Chest Wall Oscillation Combined With Concurrent Training on Cough, Sputum, Exercise Tolerance and Respiratory Muscle Strength in Cystic Fibrosis Patients","Inclusion Criteria:\n\n* Diagnosed with Cystic Fibrosis, confirmed by genotype or sweat chloride \\>60 mmol\u002FL.\n* Age 16-35 years.\n* Both male and female participants.\n* Stable clinical condition (no exacerbations in the last 2 weeks).\n* Forced expiratory volume in 1 second (FEV₁ ≥ 20% predicted).\n\nExclusion Criteria:\n\n* Active hemoptysis or pneumothorax.\n* Risk of hemodynamic instability or severe hypoxia.\n* Acute airway infection.\n* Cognitive disorders affecting compliance.\n* Pregnancy.\n* Cardiac diseases such as heart failure or arrhythmias.\n* Neurological or orthopedic illnesses or recent chest injury.","35 Years",{"count":628,"type":22},24,[84],"This randomized clinical trial aims to evaluate the effects of high-frequency chest wall oscillation (HFCWO) combined with concurrent training on cough, sputum clearance, exercise tolerance, and respiratory muscle strength in patients with Cystic Fibrosis. A total of 24 participants meeting inclusion criteria will be randomly allocated into two groups: Group A will receive HFCWO plus concurrent training, while Group B will receive HFCWO alone for 8 weeks. Outcomes will be measured before and after intervention using the 6-minute walk test, spirometry, Leicester Cough Questionnaire, sputum volume, and the Cystic Fibrosis Questionnaire-Revised. The study will be conducted at Pulmonary Rehabilitation Unit, Gulab Devi Hospital and Mayo Hospital, Lahore. Statistical analysis will be performed using IBM SPSS Statistics, with significance set at p \\\u003C 0.05.",[27],[633],"Cystic fibrosis High-frequency chest wall oscillation Concurrent training","NOT_YET_RECRUITING","2026-04-02",{"date":637,"type":41},"2026-04-09",{"date":639,"type":22},"2026-04",{"date":211,"type":22},{"name":642,"class":70},"Riphah International University"]