[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100556133":3},{"organization":4,"armGroups":7,"interventions":20,"overallOfficials":10,"centralContacts":43,"locations":10,"responsibleParty":49,"collaborators":10,"id":53,"slug":54,"hasResults":55,"nctId":56,"briefTitle":57,"officialTitle":57,"acronym":58,"eligibilityCriteria":59,"healthyVolunteers":60,"sex":61,"minAge":62,"maxAge":10,"enrollmentInfo":63,"targetDuration":10,"studyType":66,"phases":10,"briefSummary":67,"conditions":68,"keywords":10,"overallStatus":71,"whyStopped":10,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":10},{"fullName":5,"class":6},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS","OTHER",[8,17],{"label":9,"type":10,"description":10,"interventionNames":11},"Patients with FPF and sporadic IPF",null,[12,13,14,15,16],"Diagnostic Test: High resolution Computed Tomography (HRCT) scans of the Chest","Diagnostic Test: Pulmonary Function Testing (PFTs)","Diagnostic Test: Digital lung sounds auscultation","Diagnostic Test: Laboratory Assessments","Genetic: DNA sequencing",{"label":18,"type":10,"description":10,"interventionNames":19},"First-degree relatives of patients with FPF and sporadic IPF",[12,13,14,15,16],[21,26,30,34,38],{"type":22,"name":23,"description":24,"armGroupLabels":25,"otherNames":10},"DIAGNOSTIC_TEST","High resolution Computed Tomography (HRCT) scans of the Chest","A chest high-resolution computed tomography (HRCT) scan will be performed",[18,9],{"type":22,"name":27,"description":28,"armGroupLabels":29,"otherNames":10},"Pulmonary Function Testing (PFTs)","Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed",[18,9],{"type":22,"name":31,"description":32,"armGroupLabels":33,"otherNames":10},"Digital lung sounds auscultation","Lung sounds will be recorded using a manual approach with a digital stethoscope",[18,9],{"type":22,"name":35,"description":36,"armGroupLabels":37,"otherNames":10},"Laboratory Assessments","Clinical laboratory tests will be collected from each participant",[18,9],{"type":39,"name":40,"description":41,"armGroupLabels":42,"otherNames":10},"GENETIC","DNA sequencing","A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing",[18,9],[44],{"name":45,"role":46,"phone":47,"phoneExt":10,"email":48},"Luca Richeldi","CONTACT","0630157857","luca.richeldi@policlinicogemelli.it",{"type":50,"investigatorFullName":51,"investigatorTitle":52,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"PRINCIPAL_INVESTIGATOR","RICHELDI LUCA","Professor","100556133","clinical-genetics-and-screening-for-idiopathic-pulmonary-fibrosis-100556133",false,"NCT06521125","Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis","GENESI","Criteria for PATIENTS:\n\nInclusion Criteria:\n\n1. patients aged ≥18 years when signing the informed consent\n2. diagnosis of IPF based on 2022 ATS\u002FERS\u002FJRS\u002FALAT Guidelines as confirmed by the investigator based on chest HRCT scan and if available surgical lung biopsy\n3. diagnosis of FPF defined as the presence of fibrotic ILD in at least two members of the same biological family\n4. at least one 1st degree relative \\>40 years of age.\n\nExclusion Criteria:\n\n1. patients with Interstitial Lung Diseases other than Idiopathic Pulmonary Fibrosis, including but not limited to patients with granulomatous lung disease, autoimmune\u002Fcollagen vascular disease associated interstitial lung disease, and drug induced interstitial lung disease\n2. unwilling or unable to sign informed consent\n\nCriteria for FIRST DEGREE BIOLOGICAL RELATIVES:\n\nInclusion Criteria:\n\na. subjects aged ≥40 years\n\nExclusion Criteria:\n\n1. previous diagnosis of IPF\n2. a history of severe or poorly controlled anxiety, severe or poorly controlled depression according to the opinion of the investigators, suicidal ideation, or other psychiatric illness requiring hospitalization\n3. unwilling or unable to sign informed consent 400 first-degree relatives of participating patients will be recruited",true,"ALL","18 Years",{"count":64,"type":65},600,"ESTIMATED","OBSERVATIONAL","Background:\n\nIdiopathic pulmonary fibrosis (IPF) is the most common and severe form of interstitial lung disease. Between 2% and 20% of patients with IPF have a family history of the disease, which is considered the strongest risk factor. Therefore, genetic testing has been increasingly considered as a potential tool to identify patients at risk of developing IPF.\n\nAccording to some studies, genetic testing (particularly of MUC5B and TERT mutations) could be useful to rapidly identify unidentified and\u002For asymptomatic individuals (in families as well as in the general population) who have interstitial lung anomalies (ILA) that may indicate a initial stage of pulmonary fibrosis. Finding efficient screening methods and associated targeted treatments for IPF may be essential to improving the prognosis and quality of life of those suffering from this disease.\n\nObjectives of the study:\n\nThe study involves two populations of study subjects:\n\n* patients with FPF and sporadic IPF\n* first-degree relatives of patients with FPF and sporadic IPF (biological relatives, not spouses)\n\nThe primary objective is to determine the prevalence rates of interstitial lung abnormalities in at-risk relatives of patient with IPF and FPF.\n\nStudy design:\n\nMulticenter, cross-sectional study without drug and without device conducted in two major Italian tertiary referral hospitals.\n\nThe entire project is expected to last 24 months.",[69,70],"Familial Pulmonary Fibrosis","Idiopathic Pulmonary Fibrosis","NOT_YET_RECRUITING","2024-07-22",{"date":74,"type":75},"2024-07-25","ACTUAL",{"date":77,"type":65},"2024-09-01",{"date":79,"type":65},"2026-09-01",{"name":5,"class":6}]