[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100522148":3},{"organization":4,"armGroups":7,"interventions":15,"overallOfficials":25,"centralContacts":30,"locations":39,"responsibleParty":55,"collaborators":20,"id":57,"slug":58,"hasResults":59,"nctId":60,"briefTitle":61,"officialTitle":62,"acronym":20,"eligibilityCriteria":63,"healthyVolunteers":59,"sex":64,"minAge":65,"maxAge":20,"enrollmentInfo":66,"targetDuration":20,"studyType":69,"phases":70,"briefSummary":72,"conditions":73,"keywords":20,"overallStatus":41,"whyStopped":20,"lastUpdateSubmitDate":76,"lastUpdatePostDateStruct":77,"startDateStruct":80,"completionDateStruct":82,"leadSponsor":84,"locationsCount":85},{"fullName":5,"class":6},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"FSHD patients","EXPERIMENTAL","Patients with genetically confirmed FSHD undergoing routine neurological and pneumological follow-up, who will be assessed with diaphragmatic ultrasound and standard pulmonary function tests at baseline and at 12 months.",[13,14],"Other: Diaphragmatic ultrasound","Other: Pulmonary function test",[16,21],{"type":6,"name":17,"description":18,"armGroupLabels":19,"otherNames":20},"Diaphragmatic ultrasound","Ultrasound evaluation of diaphragm thickness, contractility, and excursion in semi-supine and sitting positions.",[9],null,{"type":6,"name":22,"description":23,"armGroupLabels":24,"otherNames":20},"Pulmonary function test","Routine spirometry, body plethysmography (FRC, TLC), maximal inspiratory\u002Fexpiratory pressures (MIP, MEP), and nocturnal oximetry.",[9],[26],{"name":27,"affiliation":28,"role":29},"Ricci Enzo","Fondazione Policlinico Gemelli IRCCS","PRINCIPAL_INVESTIGATOR",[31,36],{"name":32,"role":33,"phone":34,"phoneExt":20,"email":35},"Enzo Ricci","CONTACT","+390630157088","enzo.ricci@policlinicogemelli.it",{"name":37,"role":33,"phone":20,"phoneExt":20,"email":38},"Eleonora Torchia","eleonora.torchia@unicatt.it",[40],{"facility":28,"status":41,"city":42,"state":20,"zip":43,"country":44,"countryCode":45,"cosmosGeoPoint":46,"geoPoint":51,"contacts":52},"RECRUITING","Roma","00168","Italy","IT",{"type":47,"coordinates":48},"Point",[49,50],11.10642,44.99364,{"lat":50,"lon":49},[53,54],{"name":32,"role":33,"phone":34,"phoneExt":20,"email":35},{"name":37,"role":33,"phone":34,"phoneExt":20,"email":38},{"type":56,"investigatorFullName":20,"investigatorTitle":20,"investigatorAffiliation":20,"oldNameTitle":20,"oldOrganization":20},"SPONSOR","100522148","longitudinal-study-on-diaframmatic-ultrasound-in-fshd-patients-100522148",false,"NCT06078852","Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients","Longitudinal Interventional Study on Diaphragmatic Ultrasound in Facioscapulohumeral Dystrophy (FSHD) Patients","Inclusion Criteria:\n\n* Diagnosis of FSHD, genetically confirmed.\n* Adult patients (18 years or older)\n* Signature from the patient on the written informed consent document\n\nExclusion Criteria:\n\n\\- Medical history of neck and mediastinal trauma and\u002For surgery and\u002For radiation therapy (e.g. total thyroidectomy, mastectomy) with evidence of phrenic nerve injury.","ALL","18 Years",{"count":67,"type":68},34,"ESTIMATED","INTERVENTIONAL",[71],"NA","The goal of this prospective, longitudinal, single-center study is to describe respiratory function in patients affected by FSHD at baseline and after one year using both diaphragmatic ultrasound and pulmonary function test. The primary questions this study aims to answer are:\n\n1. How does respiratory function assessed by diaphragmatic ultrasound and pulmonary function tests change over 12 months in FSHD patients?\n2. How accurate is diaphragmatic ultrasound in detecting respiratory abnormalities in these patients compared to pulmonary function tests?\n3. What is the relationship between ultrasound and functional indices, and how do these indices correlate with demographic, clinical, and genetic data?\n\nTo achieve this, we will enroll a cohort of 34 patients affected by FSHD, and each of them will undergo a comprehensive neurological examination, body plethysmography, measurement of maximal inspiratory pressure (MIP) and maximal espiratory pressure (MEP) and nocturnal oximetry at baseline and after 12 months.",[74,75],"FSHD1","FSHD2","2025-09-02",{"date":78,"type":79},"2025-09-08","ACTUAL",{"date":81,"type":79},"2023-07-18",{"date":83,"type":68},"2026-07-30",{"name":5,"class":6},1]