[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100612295":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":10,"centralContacts":15,"locations":21,"responsibleParty":39,"collaborators":10,"id":42,"slug":43,"hasResults":44,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":50,"sex":51,"minAge":52,"maxAge":10,"enrollmentInfo":53,"targetDuration":10,"studyType":56,"phases":10,"briefSummary":57,"conditions":58,"keywords":10,"overallStatus":24,"whyStopped":10,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":63,"completionDateStruct":65,"leadSponsor":67,"locationsCount":68},{"fullName":5,"class":6},"Fondazione IRCCS Policlinico San Matteo di Pavia","OTHER",[8,12],{"label":9,"type":10,"description":11,"interventionNames":10},"FPF",null,"Familial Pulmonary Fibrosis",{"label":13,"type":10,"description":14,"interventionNames":10},"IPF","idiopathic pulmonary fibrosis",[16],{"name":17,"role":18,"phone":19,"phoneExt":10,"email":20},"Ilaria Campo, PhD","CONTACT","+39 0382 501007","i.campo@smatteo.pv.it",[22],{"facility":23,"status":24,"city":25,"state":26,"zip":27,"country":28,"countryCode":29,"cosmosGeoPoint":30,"geoPoint":35,"contacts":36},"Fondazione IRCCS Policlinico San Matteo","RECRUITING","Pavia","Lombardy","27100","Italy","IT",{"type":31,"coordinates":32},"Point",[33,34],9.15917,45.19205,{"lat":34,"lon":33},[37],{"name":38,"role":18,"phone":19,"phoneExt":10,"email":20},"Ilaria Campo",{"type":40,"investigatorFullName":38,"investigatorTitle":41,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"PRINCIPAL_INVESTIGATOR","MD","100612295","gen-fpf-genetic-exploration-of-familial-pulmonary-fibrosis-100612295",false,"NCT07251725","GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis","Unravelling the Genetic Basis of Familial Pulmonary Fibrosis: A Next-Generation Sequencing Approach to Fibrogenesis and Surfactant Disorder Genes","GEN-FPF","Inclusion Criteria:\n\nDiagnosis of Familial Pulmonary Fibrosis (FPF):\n\nAt least two individuals from the same family (first-degree relatives) diagnosed with pulmonary fibrosis based on clinical, radiological, or histopathological criteria (e.g., HRCT pattern consistent with usual interstitial pneumonia, UIP).\n\nDefinite or probable FPF diagnosis, according to international classification criteria and verified family history of disease.\n\nAge:\n\nAdults aged 18 years or older at the time of enrollment.\n\nInformed Consent:\n\nAbility and willingness to provide written informed consent (or consent provided by a legally authorized representative).\n\nWillingness to participate in genetic testing, clinical evaluations, and longitudinal follow-up.\n\nAvailability of Family Members:\n\nAffected family members with pulmonary fibrosis willing to provide blood samples and clinical information.\n\nUnaffected first-degree relatives willing to participate in genetic testing and family history documentation.\n\nIdiopathic Pulmonary Fibrosis (IPF) Cohort:\n\nIndividuals with a confirmed diagnosis of idiopathic pulmonary fibrosis (IPF) according to ATS\u002FERS 2018 criteria, enrolled as a comparative (non-familial) cohort.\n\nExclusion Criteria:\n\nNon-Familial Pulmonary Fibrosis:\n\nIndividuals with isolated, sporadic pulmonary fibrosis (without a family history) who are not part of the defined IPF control group.\n\nOther Significant Pulmonary Diseases:\n\nPresence of pulmonary diseases unrelated to fibrosis (e.g., chronic obstructive pulmonary disease, asthma, cystic fibrosis, or active pulmonary infection).\n\nRefusal or Withdrawal of Consent:\n\nIndividuals unwilling to provide or maintain informed consent for participation, genetic testing, or long-term data use.",true,"ALL","18 Years",{"count":54,"type":55},126,"ESTIMATED","OBSERVATIONAL","Pulmonary fibrosis (PF) is a progressive lung disease marked by tissue scarring and impaired breathing. Familial pulmonary fibrosis (FPF) makes up 10-20% of PF cases and shares features with idiopathic PF (IPF), but the genetic causes of FPF are not fully understood.\n\nThis study focuses on uncovering the genetic basis of FPF by analyzing families with multiple affected members. It targets genes involved in fibrogenesis and surfactant disorders, as familial cases often appear earlier and progress more rapidly than sporadic ones.\n\nUnderstanding FPF genetics could:\n\n1. Identify new genetic markers for early diagnosis and prognosis.\n2. Improve genetic counseling and preventive strategies for affected families.\n3. Reveal therapeutic targets for personalized treatments.\n4. Highlight shared molecular pathways between familial and idiopathic PF, potentially benefiting a broader patient group.\n\nIn summary, the study aims to deepen our understanding of FPF genetics to improve diagnosis, counseling, and treatment for both familial and idiopathic forms of pulmonary fibrosis.",[11],"2025-11-24",{"date":61,"type":62},"2025-11-26","ACTUAL",{"date":64,"type":62},"2025-09-17",{"date":66,"type":55},"2028-09",{"name":5,"class":6},1]