[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"alpha-1-antitrypsin-deficiency-aatd\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:alpha-1-antitrypsin-deficiency-aatd":23},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,36,64],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":4,"overallStatus":24,"whyStopped":4,"lastUpdateSubmitDate":25,"lastUpdatePostDateStruct":26,"startDateStruct":29,"completionDateStruct":31,"leadSponsor":33,"locationsCount":4},"100642846","natural-course-and-molecular-basis-of-alpha-1--antitrypsin-deficiency-associated-liver-disease-100642846",false,"NCT07639996","Natural Course and Molecular Basis of Alpha 1- Antitrypsin Deficiency-associated Liver Disease.","Inclusion Criteria:\n\n* Adult patients (≥18 years) with genetically confirmed alpha-1 antitrypsin deficiency (Pi\\*ZZ genotype).\n* Availability of longitudinal clinical follow-up data (minimum 5 years) within the AATD consortium.\n* At least one documented liver assessment including liver stiffness measurement (LSM) and serum-based fibrosis markers.\n* Availability of stored serum samples for proteomic analysis.\n* For translational analyses: availability of liver tissue samples (pediatric or adult) and\u002For induced pluripotent stem cell (iPSC)-derived hepatocyte-like cells.\n\nExclusion Criteria:\n\n* Presence of other chronic liver diseases (e.g., viral hepatitis, autoimmune hepatitis) that may confound fibrosis assessment.\n* History of liver transplantation prior to study inclusion.\n* Incomplete clinical, laboratory, or follow-up data.\n* Poor-quality or insufficient biological samples for proteomic or molecular analyses.\n* Patients lost to follow-up or with unreliable longitudinal data","ALL","18 Years",{"count":18,"type":19},45,"ESTIMATED","OBSERVATIONAL","* To define the course of AATD-associated liver disease.\n* To use the obtained samples for biomedical research which includes:\n\n  1. Search for serum-based disease biomarkers and the associated molecular pathways.\n  2. Multi-omic spatial analysis of human AATD-LD.",[23],"Alpha 1-antitrypsin Deficiency (AATD)","NOT_YET_RECRUITING","2026-06-05",{"date":27,"type":28},"2026-06-10","ACTUAL",{"date":30,"type":19},"2026-10-01",{"date":32,"type":19},"2028-09-30",{"name":34,"class":35},"Assiut University","OTHER",{"id":37,"slug":38,"hasResults":11,"nctId":39,"briefTitle":40,"officialTitle":41,"acronym":4,"eligibilityCriteria":42,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":43,"enrollmentInfo":44,"targetDuration":4,"studyType":46,"phases":47,"briefSummary":50,"conditions":51,"keywords":4,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":54,"lastUpdatePostDateStruct":55,"startDateStruct":57,"completionDateStruct":59,"leadSponsor":61,"locationsCount":5},"100610409","phase-1-a-study-of-tsra-196-in-adults-with-pizz-alpha-1-antitrypsin-deficiency-aatd-100610409","NCT07227207","A Study of TSRA-196 in Adults With PiZZ Alpha-1 Antitrypsin Deficiency (AATD)","A Phase 1\u002F2, Open-Label, Multi-Center, Dose Escalation, Dose Expansion, and Single Repeat Dose Study of TSRA-196 in Adults With the PiZZ Genotype Who Have Lung and\u002For Liver Disease Associated With Severe Alpha-1 Antitrypsin Deficiency","Inclusion Criteria:\n\n* Males or females who are 18 to 70 years of age, inclusive, at the time of signing the informed consent\n* Body mass index of 18 to 37 kg\u002Fm2, inclusive\n* Confirmed diagnosis of AATD and PiZZ genotype\n* At least one previous measure of blood total AAT level \\\u003C11 µmol\u002FL\n* Nonsmoker for at least 6 months before screening and must remain nonsmoking for the entire study duration\n* Either AAT treatment-naïve or washed out of all investigational or approved treatments that modify AAT levels for 5 half-lives or at least 4 weeks, whichever is longer, before TSRA-196 administration\n\nParts 1A and 2A (AATD lung disease with no or minimal liver fibrosis)\n\n* Clinically significant lung disease, defined as 1) evidence of emphysema or bronchiectasis by computed tomography or 2) DLCO \\\u003C70% of the predicted value or 3) ppFEV1 \\\u003C80%\n* ppFEV1 ≥35%\n* METAVIR fibrosis score F0 or F1 confirmed by liver biopsy at screening, or a liver stiffness measure by FibroScan ≤7 kPa at screening\n* FIB-4 index score ≤3.25 at screening\n* ALT and\u002For AST \\\u003CULN at screening\n\nParts 1B and 2B (AATD liver disease with significant or severe liver fibrosis, with or without AATD lung disease)\n\n* METAVIR fibrosis score F2 or F3 confirmed by liver biopsy at screening. A liver biopsy conducted within 12 months before screening is acceptable as a substitute.\n* Liver stiffness measure by FibroScan \\>7 and ≤15 kPa at screening\n* ALT and\u002For AST \\\u003C2 x ULN at screening\n\nExclusion Criteria:\n\n* Presence of genetic variation in SERPINA1 gene that may disrupt the function of TSRA-196, determined by screening genotyping\n* History of liver disease unrelated to AATD, or history of or clinical signs of cirrhosis\n* Significant lung disease not attributable to manifestations of AATD, as determined by the investigator\n* History of one or more hospitalizations due to severe exacerbation of underlying lung disease during the year before screening or received IV antibiotics for treatment of a pulmonary infection within 6 months before screening\n* Unstable AATD-related COPD, as determined by the investigator, or severe bronchiectasis\n* Lung volume reduction surgery within 1 year before screening or plan to receive lung volume reduction surgery during the study period\n* Documented chronic need for positive airway pressure therapy beyond nocturnal use\n* Seropositive for human immunodeficiency virus (HIV) (HIV-1 or HIV-2)\n* Seropositive for hepatitis B (hepatitis B surface antigen \\[HBsAg\\] or hepatitis B core antibody \\[HBcAb\\] positive) with detectable HBV DNA\n* Hepatitis C virus (HCV) RNA positive at screening (Parts 1A and 2A), or HCV RNA positive and\u002For HCV antibody positive at screening (Parts 1B and 2B)\n* Has received an organ transplant or is on a waiting list for an organ transplant\n* Prior treatment with gene therapy using viral vectors or intended to permanently change the patient's DNA\n* Any investigational products within 30 days before dosing or plan to take an investigational product before the end of study","70 Years",{"count":45,"type":19},72,"INTERVENTIONAL",[48,49],"PHASE1","PHASE2","This is a Phase 1\u002F2, open-label, multi-center, dose escalation (Part 1), dose expansion (Part 2), and single repeat dose (Part 3) study to evaluate the safety, tolerability, efficacy, and PK\u002FPD parameters of TSRA-196 in adults with the PiZZ genotype who have lung and\u002For liver disease associated with severe alpha-1 antitrypsin deficiency (AATD)",[52],"Alpha-1 Antitrypsin Deficiency (AATD)","RECRUITING","2026-05-13",{"date":56,"type":28},"2026-05-18",{"date":58,"type":28},"2026-04-21",{"date":60,"type":19},"2029-03",{"name":62,"class":63},"Tessera Therapeutics, Inc.","INDUSTRY",{"id":65,"slug":66,"hasResults":11,"nctId":67,"briefTitle":68,"officialTitle":69,"acronym":70,"eligibilityCriteria":71,"healthyVolunteers":72,"sex":15,"minAge":16,"maxAge":4,"enrollmentInfo":73,"targetDuration":75,"studyType":20,"phases":4,"briefSummary":76,"conditions":77,"keywords":78,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":85,"completionDateStruct":87,"leadSponsor":89,"locationsCount":91},"100604693","screening-for-alpha-1-antitrypsin-deficiency-in-patients-with-airway-obstruction-100604693","NCT07152834","Screening for Alpha-1 Antitrypsin Deficiency in Patients With Airway Obstruction","Evaluation of the Relationship Between Dyspnoea and Functional Airway Obstruction in Alpha-1 Antitrypsin Deficiency: A Prospective, Case-Control, Analytical Study","AATD-SAO","Inclusion Criteria:\n\n* Achieve a post-bronchodilator FEV1\u002FFVC ratio of 70 or above in the respiratory function test.\n* Be able to speak and understand Turkish.\n* Have the mental and cognitive capacity to understand the questions asked.\n\nExclusion Criteria:\n\n* Renal dysfunction; acute inflammation; rheumatological, haematological, or liver diseases; COPD; asthma; bronchiectasis; and a history of malignancy.\n* Pregnant women and users of oral contraceptives.",true,{"count":74,"type":19},734,"1 Day","Brief Summary:\n\nThis study aims to find out if a genetic condition called Alpha-1 Antitrypsin Deficiency (AATD) is more common in people who have shortness of breath and signs of airway obstruction on their breathing tests.\n\nAlpha-1 antitrypsin (AAT) is a protein that protects the lungs from damage. AATD is an inherited condition where the body does not make enough of this protein, which can lead to lung diseases like emphysema, especially in smokers.\n\nInvestigators hypothesize that low AAT levels or related genetic mutations may be a contributing factor to airway obstruction in patients complaining of shortness of breath.\n\nTo test this, investigators will recruit patients from our outpatient clinic who are being evaluated for shortness of breath and are having a standard breathing test (spirometry). Investigators will measure their AAT levels and test for the most common genetic mutations that cause AATD using a small blood sample. Investigators will then compare the AAT levels and genetic results between different groups of patients, such as smokers and non-smokers with and without airway obstruction. Investigators will also see if the severity of a patient's shortness of breath is related to their AAT levels.\n\nThe goal is to improve the detection of AATD in this patient population, which could lead to better diagnoses and specific treatments for those who have this condition.",[23],[79,80,81],"Alpha 1-Antitrypsin Deficiency","Airway Obstruction","PRISm","2025-09-03",{"date":84,"type":28},"2025-09-10",{"date":86,"type":28},"2025-08-06",{"date":88,"type":19},"2026-01-05",{"name":90,"class":35},"Muğla Sıtkı Koçman University",1]