[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Meyer Children's Hospital IRCCS\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":614},{"pageToken":4,"total":5,"offset":6,"count":7,"results":8},null,44,0,25,[9,51,78,112,139,160,183,208,235,255,279,301,321,342,363,391,414,436,456,475,498,519,549,566,589],{"id":10,"slug":11,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":15,"acronym":16,"eligibilityCriteria":17,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":20,"enrollmentInfo":21,"targetDuration":4,"studyType":24,"phases":25,"briefSummary":27,"conditions":28,"keywords":33,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":39,"lastUpdatePostDateStruct":40,"startDateStruct":43,"completionDateStruct":45,"leadSponsor":47,"locationsCount":50},"100586946","lung-ultrasound-for-guiding-antibiotic-use-in-pediatric-pneumonia-100586946",false,"NCT06921993","Lung Ultrasound for Guiding Antibiotic Use in Pediatric Pneumonia","Lung Ultrasound for Antibiotic Stewardship in Community-Acquired Pneumonia: A Randomized Clinical Trial","LUSCAP","Inclusion Criteria:\n\n* Well-appearing, clinically stable patients aged 3 to 10 years, presenting to the pediatric ED with suspected pneumonia based on a combination of signs and symptoms suggestive of lower respiratory tract infection (LRTI), including:\n\n  1. Respiratory Symptoms: Cough, Tachypnea, Dyspnea (Increased work of breathing), Abnormal findings on auscultation.\n  2. Systemic Symptoms: Fever, Hypoxia, Decreased appetite.\n\n     Exclusion Criteria:\n* Neonates and children up to 3 years of age, and children older than 10 years\n* Children aged 3 to 10 years with any of the following factors:\n\n  1. Recent hospitalization (within the past 14 days)\n  2. Prior CXR or any other chest imaging (e.g. CT scan)\n  3. Ongoing antibiotic therapy\n  4. Hemodynamic instability\n  5. Respiratory failure or severe respiratory distress and\u002For hypoxemia, requiring urgent assessment for conditions such as pneumothorax, hemothorax, or other emergency respiratory conditions\n  6. History of aspiration or ab ingestis pneumonia\n  7. Underlying medical conditions predisposing to severe or recurrent pneumonia, including immunodeficiency, chronic corticosteroid use, chronic lung disease, malignancy, sickle cell disease, congenital heart disease, tracheostomy, and neuromuscular disorders affecting respiration","ALL","3 Years","10 Years",{"count":22,"type":23},659,"ESTIMATED","INTERVENTIONAL",[26],"NA","Pneumonia is a major cause of illness and death in children, with an annual incidence of about 3.3 per 1,000 in those under five years old, many requiring hospitalization. The diagnosis is challenging due to the absence of a universally accepted gold standard, leading to variability in emergency settings. Current guidelines recommend diagnosis based on history and physical examination, which do not reliably differentiate pneumonia from other respiratory infections or identify whether it is bacterial or viral in nature. This uncertainty can lead to the unnecessary use of antibiotics.\n\nCommonly used chest X-rays have limitations such as low sensitivity, moderate interobserver reliability, and the inability to distinguish bacterial from viral pneumonia. In contrast, lung ultrasound has shown high sensitivity and specificity for diagnosing pneumonia in children. However, lung ultrasound also cannot reliably distinguish between bacterial and viral causes and might lead to increased antibiotic prescriptions by detecting minor lung consolidations not seen on chest X-rays. Despite these issues, lung ultrasound is widely used in pediatric pulmonary assessment.\n\nThe primary objective of the study is to determine if using lung ultrasound for diagnosing pneumonia in children can reduce antibiotic prescriptions compared to the standard care approach-which mainly relies on clinical diagnosis (often supplemented by chest X-ray and blood tests in selected cases). The secondary objective is to assess how frequently lung ultrasound impacts management decisions during a single clinical visit, beyond the information provided by history and physical examination. The third objective is to compare the diagnostic accuracy of lung ultrasound-supported diagnosis with existing diagnostic methods.\n\nThe study hypothesizes that lung ultrasound results can act as a decision modifier, similar to other clinical tools and examination findings. However, a lack of consensus on specific lung ultrasound parameters and their clinical correlations contributes to variability in managing suspected pneumonia, potentially leading to antibiotic overuse.\n\nEligible participants are children aged three to ten years who are in good general condition and clinically stable, presenting with signs and symptoms of lower respiratory tract infection indicative of pneumonia. Exclusion criteria include children outside the specified age range, those recently hospitalized, those who have undergone prior chest imaging, those already on antibiotic therapy, those with severe clinical instability, and those with underlying conditions predisposing them to severe or recurrent pneumonia. These criteria help ensure that the study population represents general pediatric community-acquired pneumonia cases, avoiding biases from high-risk patients.\n\nThe ultimate goal of this study is to provide evidence on whether lung ultrasound can serve as a reliable tool to guide antibiotic prescriptions, thereby reducing unnecessary antibiotic use in the management of pediatric pneumonia.",[29,30,31,32],"Pneumonia Childhood","Pneumonia","Lung Ultrasound","Antibiotic Stewardship",[30,34,35,36,37],"Children","Pediatrics","Lung ultrasound","point-of-care ultrasound","RECRUITING","2026-04-02",{"date":41,"type":42},"2026-04-03","ACTUAL",{"date":44,"type":42},"2025-04-24",{"date":46,"type":23},"2028-06-30",{"name":48,"class":49},"Meyer Children's Hospital IRCCS","OTHER",18,{"id":52,"slug":53,"hasResults":12,"nctId":54,"briefTitle":55,"officialTitle":56,"acronym":4,"eligibilityCriteria":57,"healthyVolunteers":12,"sex":18,"minAge":58,"maxAge":59,"enrollmentInfo":60,"targetDuration":4,"studyType":24,"phases":62,"briefSummary":63,"conditions":64,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":69,"lastUpdatePostDateStruct":70,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":77},"100632690","slit-abs-study-on-patients-with-autoimmune-podocytopathy-100632690","NCT07516964","SLIT ABS: Study on Patients With Autoimmune Podocytopathy","Validation and Implementation of Diagnostic Techniques for the Detection of Circulating Factors in Patients With Autoimmune Podocytopathy","Inclusion Criteria:\n\n* Pediatric and adult patients with a diagnosis of podocytopathy\n* Patients with nephrotic syndrome and\u002For histological diagnosis of minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), collapsing glomerulopathy (CG), or diffuse mesangial sclerosis (DMS)\n* Both newly diagnosed (incident) patients and patients already under follow-up at participating centers\n* Availability of clinical data from medical records (including paper and\u002For electronic records, laboratory reports, and discharge summaries)\n* Availability of biological samples (e.g., blood and\u002For renal biopsy), if collected as part of routine clinical care\n* Signed informed consent by the patient or legal guardian (and assent when applicable)\n\nExclusion Criteria:\n\n* Refusal or inability of the patient, parents, or legal guardian to provide informed consent\n* Lack of sufficient clinical data or unavailable biological samples required for the study","0 Years","99 Years",{"count":61,"type":23},50,[26],"Nephrotic syndrome is a kidney condition that mainly affects children and is characterized by high levels of protein in the urine, low levels of protein in the blood, and swelling. While many children respond well to steroid treatment, a large proportion experience relapses or become dependent on therapy. In some cases, the disease does not respond to standard treatments and may progress to chronic kidney disease.\n\nRecent research suggests that, in addition to genetic factors, immune system mechanisms may play a key role in the development and progression of nephrotic syndrome. In particular, some patients produce autoantibodies against nephrin, an essential protein of the kidney filtration barrier. These autoantibodies may be associated with disease activity and treatment response.\n\nThe aim of this study is to investigate the presence of anti-nephrin autoantibodies in children with nephrotic syndrome and to better understand their role in disease mechanisms and clinical outcomes.The study will also explore the presence of other autoantibodies targeting components of the glomerular filtration barrier. The study will use advanced laboratory techniques, including blood tests and detailed analysis of kidney biopsy samples, to identify these antibodies and their relationship with kidney structure and function.\n\nBy integrating laboratory findings with clinical data, this study aims to improve the understanding of nephrotic syndrome and support the development of more personalized diagnostic and therapeutic strategies, with the goal of improving patient outcomes and reducing unnecessary or ineffective treatments.",[65,66,67,68],"Nephrotic Syndrome With Edema (Diagnosis)","Minimal Change Nephrotic Syndrome","Focal Segmental Glomerulosclerosis (FSGS)","Nephrotic Syndrome Due to Idiopathic Membranous Nephropathy","2026-04-01",{"date":71,"type":42},"2026-04-08",{"date":73,"type":42},"2025-06-10",{"date":75,"type":23},"2036-10",{"name":48,"class":49},14,{"id":79,"slug":80,"hasResults":12,"nctId":81,"briefTitle":82,"officialTitle":83,"acronym":84,"eligibilityCriteria":85,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":86,"enrollmentInfo":87,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":90,"conditions":91,"keywords":96,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":104,"lastUpdatePostDateStruct":105,"startDateStruct":106,"completionDateStruct":108,"leadSponsor":110,"locationsCount":111},"100631751","leish-ped-study-on-leishmaniasis-in-children-100631751","NCT07504757","LEISH-PED: Study on Leishmaniasis in Children","A Multicenter Study on Leishmaniasis in Children: Clinical and Epidemiological Characteristics and Outcomes","LEISH-PED","Inclusion Criteria:\n\n* Patients younger than 18 years of age at the time of diagnosis\n* Diagnosis of human leishmaniasis according to World Health Organization (WHO) criteria\n* Written informed consent signed by parents or legal guardians; patient assent when applicable\n\nExclusion Criteria:\n\n* Patients who do not meet the diagnostic criteria for confirmed human leishmaniasis\n* Lack of informed consent signed by parents or legal guardians, when required","17 Years",{"count":88,"type":23},200,"OBSERVATIONAL","Leishmaniasis is an infection caused by Leishmania parasites. In children, it can affect the skin or internal organs. Diagnosis may be delayed because the signs and symptoms can be similar to those of other conditions. Delayed diagnosis or treatment may lead to worse outcomes. Treatment approaches, especially for cutaneous leishmaniasis, may also vary across centers. This study aims to improve knowledge about pediatric leishmaniasis in Italy.\n\nThis is a multicenter observational study in children younger than 18 years of age with a diagnosis of human leishmaniasis according to World Health Organization criteria. The study includes both retrospective and prospective data from participating centers in Italy. Researchers will collect and analyze clinical, diagnostic, epidemiological, treatment, and outcome data from the baseline visit and from follow-up during the first year.\n\nThe main goal of the study is to describe the clinical and epidemiological features of pediatric leishmaniasis in Italy over the study period, with a particular focus on diagnostic and treatment delay and on patient outcomes. The study will also assess the frequency and severity of disease over time and compare outcomes associated with different treatment approaches, particularly in cutaneous leishmaniasis. Patients evaluated between January 1, 2013 and June 30, 2031 may be included.",[92,93,94,95],"Leishmania Infantum Disease","Leishmaniasis, Visceral","Leishmaniasis, Cutaneous","Leishmaniasis, Mucocutaneous",[97,98,99,100,34,101,102,103],"Pediatric leishmaniasis","Visceral leishmaniasis","Cutaneous leishmaniasis","Mucocutaneous leishmaniasis","Italy","Diagnostic delay","Leishmania infantum","2026-03-26",{"date":69,"type":42},{"date":107,"type":42},"2025-01-30",{"date":109,"type":23},"2031-12-30",{"name":48,"class":49},1,{"id":113,"slug":114,"hasResults":12,"nctId":115,"briefTitle":116,"officialTitle":116,"acronym":117,"eligibilityCriteria":118,"healthyVolunteers":12,"sex":18,"minAge":119,"maxAge":120,"enrollmentInfo":121,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":123,"conditions":124,"keywords":126,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":130,"lastUpdatePostDateStruct":131,"startDateStruct":133,"completionDateStruct":135,"leadSponsor":137,"locationsCount":138},"100626673","outcomes-in-arms-comparison-between-surgical-techniques-in-patients-with-perineal-or-vestibular-fistula---a-multicenter-italian-study-100626673","NCT07438691","Outcomes in ARMs: Comparison Between Surgical Techniques in Patients With Perineal or Vestibular Fistula - a Multicenter Italian Study","MAR-ITA","Inclusion Criteria:\n\n* Pediatric patients (\\\u003C18 years)\n* Diagnosis of anorectal malformation with perineal or vestibular fistula\n* Surgical correction with PSARP (or variants), ASARP, or TAP\n* Signed informed consent from parents\u002Flegal guardians\n\nExclusion Criteria:\n\n* Age \\>18 years\n* Other types of anorectal malformations\n* Surgical technique other than those specified","0 Days","18 Years",{"count":122,"type":23},500,"This is a national, multicenter, retro-prospective longitudinal cohort study evaluating mid- and long-term outcomes of different surgical techniques used for the correction of anorectal malformations (ARM) with perineal or vestibular fistula.\n\nPatients undergoing surgical correction between 2020 and 2027 will be included. Functional outcomes, particularly fecal continence assessed using the Krickenbeck score, will be evaluated at 3 and 6 years post-surgery or until continence is achieved.",[125],"Anorectal Malformations",[127,128,129],"Anorectal Malformation","Perineal Fistula","Rectovestibular Fistula","2026-03-23",{"date":132,"type":42},"2026-03-27",{"date":134,"type":42},"2026-02-05",{"date":136,"type":23},"2033-02",{"name":48,"class":49},21,{"id":140,"slug":141,"hasResults":12,"nctId":142,"briefTitle":143,"officialTitle":144,"acronym":4,"eligibilityCriteria":145,"healthyVolunteers":12,"sex":18,"minAge":146,"maxAge":147,"enrollmentInfo":148,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":150,"conditions":151,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":130,"lastUpdatePostDateStruct":153,"startDateStruct":154,"completionDateStruct":156,"leadSponsor":158,"locationsCount":159},"100537124","rchilduvstudy-on-non-infectious-chronic-uveitis-in-pediatric-age-100537124","NCT06273748","RChildUV:Study on Non-infectious Chronic Uveitis in Pediatric Age","Retrospective and Prospective Observational Study on Non-infectious Chronic Uveitis in Pediatric Age","Inclusion Criteria:\n\n* diagnosis of non-infectious chronic uveitis before the age of 16;\n* signed informed consent form.\n\nExclusion Criteria:\n\n* Patients with a diagnosis of infectious uveitis\n* history of malignant pathology,\n* history of demyelinating pathology,\n* history of cerebral vasculitis","1 Year","16 Years",{"count":149,"type":23},290,"Uveitis is an inflammatory disease of the uvea, one of the highly vascularized fundamental structures of the eye. It is a rare condition in children, with an incidence in the pediatric population ranging from 2% to 14% of all uveitis cases. The diagnosis and management of patients with uveitis rely on a multidisciplinary approach involving an ophthalmologist, a rheumatologist, and an infectious disease specialist to establish the correct diagnosis and assess the involvement of other organs. In Italy, there is no national or regional registry for non-infectious chronic uveitis as per the Prime Ministerial Decree (DPCM) of March 3, 2017 (Identification of surveillance systems and registries for mortality, tumors, and other diseases). However, many clinical centers adopt data recording systems to evaluate the quality of care and to study diseases and outcomes. The Universitary Hospital Meyer Institute Research Hospital (IRCCS) is a national referral center for managing these pediatric cases of non-infectious chronic uveitis, estimated to constitute 95% of all pediatric uveitis cases",[152],"Uveitis",{"date":132,"type":42},{"date":155,"type":42},"2022-02-10",{"date":157,"type":23},"2032-05-02",{"name":48,"class":49},19,{"id":161,"slug":162,"hasResults":12,"nctId":163,"briefTitle":164,"officialTitle":165,"acronym":4,"eligibilityCriteria":166,"healthyVolunteers":12,"sex":18,"minAge":167,"maxAge":86,"enrollmentInfo":168,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":170,"conditions":171,"keywords":4,"overallStatus":174,"whyStopped":4,"lastUpdateSubmitDate":175,"lastUpdatePostDateStruct":176,"startDateStruct":178,"completionDateStruct":180,"leadSponsor":182,"locationsCount":111},"100630765","maskd-a-study-on-kawasaki-disease-kd-complicated-by-macrophage-activation-syndrome-mas-100630765","NCT07491926","MASKd: a Study on Kawasaki Disease (KD) Complicated by Macrophage Activation Syndrome (MAS)","MACROPHAGE ACTIVATION SYNDROME IN KAWASAKI DISEASE: Features, Treatment, Outcome, Predictive and Diagnostic Factors (The MASKd Study)","Inclusion Criteria:\n\n* Age between 4 weeks and under 18 years at the time of KD diagnosis\n* Diagnosis of KD made according to the 2024 AHA guidelines\n* Diagnosis of MAS made by the attending physician within 30 days from the onset of KD.\n\nExclusion Criteria:\n\n* Unconfirmed diagnosis of KD (e.g., mimicking conditions)\n* Primary (genetic) HLH\n* Lack of informed consent\n* MAS diagnosed more than 30 days after or more than 15 days before the onset of KD","4 Weeks",{"count":169,"type":23},150,"Kawasaki Disease (KD) is one of the most common vasculitides in childhood and represents a leading cause of acquired heart disease in developed countries. Macrophage Activation Syndrome (MAS) is a potentially life threatening hyperinflammatory condition belonging to the spectrum of hemophagocytic lymphohistiocytosis (HLH), and it can complicate various rheumatologic diseases. Awareness of MAS in the context of KD has recently increased, supporting the hypothesis that it is an underdiagnosed complication. The study aims to define the epidemiology, clinical characteristics, management, and therapeutic strategies of MAS in patients with KD, through a multicenter data collection in Europe.",[172,173],"Kawasaki Disease","Macrophage Activation Syndrome (MAS)","NOT_YET_RECRUITING","2026-03-18",{"date":177,"type":42},"2026-03-25",{"date":179,"type":23},"2026-02",{"date":181,"type":23},"2029-02",{"name":48,"class":49},{"id":184,"slug":185,"hasResults":12,"nctId":186,"briefTitle":187,"officialTitle":187,"acronym":4,"eligibilityCriteria":188,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":120,"enrollmentInfo":189,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":191,"conditions":192,"keywords":197,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":200,"lastUpdatePostDateStruct":201,"startDateStruct":202,"completionDateStruct":204,"leadSponsor":206,"locationsCount":207},"100582952","psychotropic-drug-induced-qt-prolongation-and-ecg-monitoring-in-the-pediatric-population-100582952","NCT06870006","Psychotropic-Drug-induced QT Prolongation and ECG Monitoring in the Pediatric Population","Inclusion Criteria:\n\n* Admitted to psychiatry ward\n* Starting a psychotropic drug acting on QT interval\n\nExclusion Criteria:\n\n* Age \\>18aa\n* History of administration of drug acting on QT interval in the 3 months prior",{"count":190,"type":23},100,"Electrocardiogram (ECG) Q-T prolongation is a cardiac electrophysiological disorder associated with the occurrence of arrhythmias potentially fatal. Several psychotropic drugs are associated with an increased risk of QT prolongation, which is why in clinical practice a baseline ECG is performed before a psychotropic drug is prescribed. However, there are no validated protocols establishing when to repeat this examination or describing clinical events when this examination should be repeated in clinical follow-up.\n\nThe study aims to investigate the incidence of QTc prolongation events as a side effect of chronic psychotropic drug administration. For this purpose, ECGs will be recorded and confounding factors of patients at the beginning of psychotropic therapy and after 3, 6 and 12 months will be analyzed.",[193,194,195,196],"Eating Disorders","Mood Disorders in Children and Adolescents","Psychotic Disorder","QTc Intervals Changes",[198,199],"QTc interval","psychotropic drugs","2026-03-17",{"date":175,"type":42},{"date":203,"type":42},"2024-01-01",{"date":205,"type":23},"2027-01",{"name":48,"class":49},6,{"id":209,"slug":210,"hasResults":12,"nctId":211,"briefTitle":212,"officialTitle":213,"acronym":214,"eligibilityCriteria":215,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":120,"enrollmentInfo":216,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":218,"conditions":219,"keywords":224,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":226,"lastUpdatePostDateStruct":227,"startDateStruct":229,"completionDateStruct":231,"leadSponsor":233,"locationsCount":234},"100628962","cacp-study-on-camptodactyly---arthropathy---coxa-vara---pericarditis-cacp-syndrome-100628962","NCT07468461","CACP: Study on Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome","Profiling Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome: A Multicenter European Study","CACP","Inclusion Criteria:\n\n* Patients with clinical diagnosis and genetic confirmation of CACP syndrome.\n* Patients diagnosed during pediatric age (\\\u003C18 years).\n* Time frame: Patients diagnosed with CACP between January 2005 and January 1, 2026.\n* Informed consent obtained from parents or legal guardians.\n\nExclusion Criteria:\n\n* Patients without genetic confirmation of the diagnosis.\n* Lack of informed consent from parents or legal guardians.\n* Patients diagnosed before January 1, 2005, or after January 1, 2026.",{"count":217,"type":23},15,"CACP syndrome is a rare autosomal recessive disorder characterized by the triad of camptodactyly, non-inflammatory arthropathy with synovial hyperplasia, and coxa vara. Occasionally, non-inflammatory pericarditis and pleural effusion may also occur. This syndrome is likely underdiagnosed due to its rarity. Epidemiological information is limited to isolated case reports or small patient series, with the largest reported cohort including 35 patients.\n\nThe genetic cause of CACP syndrome is associated with mutations in the PRG4 gene, located on chromosome 1q31.1. While clinical signs (camptodactyly, non-inflammatory arthropathy, and coxa vara) and radiological findings suggest the diagnosis, genetic testing confirms it by identifying pathogenic biallelic mutations in PRG4.\n\nTo date, twenty-two mutations have been identified, all leading to premature stop codons and the absence of functional lubricin. However, the exact pathophysiology of CACP syndrome remains incompletely understood.\n\nClinical manifestations of CACP syndrome can vary, even within the same family. The progressive and slow onset can initially present as an incomplete clinical picture. However, camptodactyly (85- 100%) and arthropathy (100%) are constant features.\n\nAlthough genetically homogeneous, CACP exhibits significant intra- and interfamilial phenotypic variability due to secondary genetic factors, environmental modifiers, and complex molecular mechanisms.\n\nCamptodactyly is symmetrical, with variable distribution. It may affect fingers or toes and can be congenital or develop during childhood.\n\nArthropathy is symmetrical, primarily involving large joints (wrists, knees, ankles, elbows, and hips).\n\nCoxa vara is present in 50-90% of cases, is progressive, and tends to worsen with age. Spinal abnormalities such as lordosis, scoliosis, and kyphosis are possible, though the cervical spine is generally spared.\n\nThe articular manifestations of CACP syndrome may mimic juvenile idiopathic arthritis (JIA), and patients are often initially misdiagnosed and treated inappropriately.\n\nJoints appear swollen due to non-inflammatory synovial effusion and synovial thickening. They develop contractures, functional limitations, and sometimes musculoskeletal pain.\n\nNon-inflammatory pericarditis is reported in 30% of published cases, with variable clinical courses that may require surgical intervention in cases of constrictive pericarditis.\n\nThe routine pathway of assessments and follow-up for patients with CACP syndrome includes an initial detailed evaluation and regular monitoring. Following the diagnosis, which is based on clinical history, imaging studies, and genetic confirmation of PRG4 mutations, patients undergo periodic clinical visits, generally scheduled every six months. During these visits, the progression of the disease, articular symptoms (e.g., camptodactyly, mobility limitations), and possible extraarticular complications, such as pericarditis, are assessed.\n\nRadiological (e.g., X-rays, MRI) and laboratory assessments, however, can be spaced out over longer intervals compared to the schedule of clinical visits, typically every 1-2 years, unless specific indications arise. Nonetheless, these examinations may be requested based on contingent clinical needs, such as a sudden worsening of symptoms or suspicion of complications. This flexible approach helps to balance thorough disease monitoring with minimizing the burden on patients, while ensuring personalized and timely management of the condition.\n\nAt present, there is no specific pharmacological treatment for CACP. Management is primarily symptomatic and aimed at preventing joint deformities and extra-articular complications.\n\nCurrently, no experimental therapies are available for CACP syndrome, but future research could explore gene therapy, regenerative medicine, and biologics.\n\nThis study, involving pediatric and pediatric rheumatology centers across Italy and Europe, aims to collect epidemiological, clinical, and therapeutic data from a large cohort of patients. Its goals include better defining the disease's characteristics, understanding its natural history, and evaluating different therapeutic approaches and their efficacy. The study will also analyze potential genotypephenotype correlations.",[220,221,222,223],"Camptodactyly","Arthropathy","Coxa Vara","Pericarditis",[225],"Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome","2026-03-13",{"date":228,"type":42},"2026-03-16",{"date":230,"type":42},"2025-08-01",{"date":232,"type":23},"2038-01-01",{"name":48,"class":49},10,{"id":236,"slug":237,"hasResults":12,"nctId":238,"briefTitle":239,"officialTitle":240,"acronym":241,"eligibilityCriteria":242,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":120,"enrollmentInfo":243,"targetDuration":4,"studyType":24,"phases":244,"briefSummary":245,"conditions":246,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":248,"lastUpdatePostDateStruct":249,"startDateStruct":250,"completionDateStruct":252,"leadSponsor":254,"locationsCount":111},"100629119","mici-bio-study-on-patient-with-chronic-inflammatory-bowel-disease-100629119","NCT07470502","MICI-BIO: Study on Patient With Chronic Inflammatory Bowel Disease","Single-center Pilot Study for Proactive Monitoring of Infliximab in Patients With Chronic Inflammatory Bowel Disease Starting Biologic Therapy: Comparative Assessment of Plasma and Salivary Levels","MICI-BIO","Inclusion Criteria:\n\n* Age between 3 and 18 years\n* diagnosis of Crohn's disease or ulcerative colitis\n* starting biological therapy with infliximab;\n* Signed informed consent.\n\nExclusion Criteria:\n\n* Patients in whom the diagnosis of IBD has not been confirmed according to standardized endoscopic and histological criteria;\n* Patients who refuse to participate in the study.",{"count":217,"type":23},[26],"This is a monocentric, non-profit prospective cohort study with longitudinal biological sampling. The study will include patients with IBD starting biological therapy with infliximab. During four routine clinical visits in the induction phase (standard or accelerated) and the first maintenance visit, two saliva samples (pre- and post-infusion) and one plasma sample (pre-infusion) will be collected. Plasma samples will be obtained from leftover blood collected during routine clinical practice, with no additional blood draws required. The induction regimen (standard or accelerated) will be determined by the treating physicians based on the patient's clinical and laboratory characteristics and will not be influenced by study participation. The study focuses on the first four infliximab infusions (three induction and one maintenance). Standard induction lasts 14 weeks (infusions at weeks 0, 2, 6, and 14), while accelerated induction lasts 8 weeks (infusions at weeks 0, 1, 4, and 8).\n\nThe primary objective of the study is to compare infliximab levels measured in plasma with infliximab levels in saliva in a sample of 15 patients receiving the drug during the first four infusions after a diagnosis of IBD. The study is purely exploratory, and the collected data will not be used for diagnostic or therapeutic purposes.",[247],"IBD (Inflammatory Bowel Disease)","2026-03-10",{"date":226,"type":42},{"date":251,"type":42},"2025-02-13",{"date":253,"type":23},"2028-08-13",{"name":48,"class":49},{"id":256,"slug":257,"hasResults":12,"nctId":258,"briefTitle":259,"officialTitle":260,"acronym":4,"eligibilityCriteria":261,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":120,"enrollmentInfo":262,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":264,"conditions":265,"keywords":267,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":271,"lastUpdatePostDateStruct":272,"startDateStruct":274,"completionDateStruct":276,"leadSponsor":278,"locationsCount":217},"100619718","efeso-study-on-juvenile-onset-eosinophilic-fasciitis-100619718","NCT07348263","EFESO: Study on Juvenile Onset Eosinophilic Fasciitis","International Multicentre Cohort Study on Clinical Manifestations and Response to Therapy in Juvenile Onset Eosinophilic Fasciitis","Inclusion criterai:\n\nAll patients diagnosed from 2000 to 31\u002F12\u002F2026\n\n* minimum follow-up 6 months\n* Age \\\u003C18 years at diagnosis;\n* All patients whose informed consent is collected in accordance with current local legislation will also be considered enrollable.\n\nExclusion Criteria:\n\n* Age ≥18 years at diagnosis;\n* Unwilling to participate into the study;\n* A follow-up period \\\u003C 6 months.",{"count":263,"type":23},20,"Eosinophilic fasciitis is a connective tissue disorder characterized by inflammation of the muscle fasciae, which is very rare in children. In juvenile-onset eosinophilic fasciitis (JEF), there may be severe joint involvement and skin manifestations may be less prevalent than in adults. It represents an important differential diagnosis of both juvenile-onset systemic sclerosis and localized scleroderma, and the correct classification of these patients is necessary to define a targeted diagnostic-therapeutic pathway. The diagnostic criteria proposed for eosinophilic fasciitis in the adult population do not necessarily require confirmation by skin biopsy, currently the \"gold standard,\" which is an invasive procedure for pediatric patients; however, these criteria have never been directly applied to the pediatric population. From a therapeutic point of view, the combination of glucocorticoids and methotrexate is recommended for both adults and pediatric patients, but the data supporting this treatment in children are very limited, and there are no studies comparing the therapeutic approaches currently in use in pediatrics. Finally, there are no studies in the literature documenting the long-term prognosis of these patients in terms of functional limitations, quality of life, or complications related to the disease or treatments.",[266],"Eosinophilic Fasciitis",[266,268,269,270],"Juvenile eosinophilic fasciitis","juvenile scleroderma","sclerosing disorders","2026-03-09",{"date":273,"type":42},"2026-03-11",{"date":275,"type":42},"2025-05-15",{"date":277,"type":23},"2027-05-15",{"name":48,"class":49},{"id":280,"slug":281,"hasResults":12,"nctId":282,"briefTitle":283,"officialTitle":284,"acronym":4,"eligibilityCriteria":285,"healthyVolunteers":12,"sex":18,"minAge":286,"maxAge":4,"enrollmentInfo":287,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":289,"conditions":290,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":292,"lastUpdatePostDateStruct":293,"startDateStruct":295,"completionDateStruct":297,"leadSponsor":299,"locationsCount":300},"100627877","ecd-score-a-study-on-erdheim-chester-disease-100627877","NCT07454343","ECD-Score: a Study on Erdheim-Chester Disease","Predicting Long-term Prognosis in Erdheim-Chester Disease: A New Comprehensive Approach","Inclusion Criteria:\n\n* informed consent signed by the patient or, for minors, by a parent or legal guardian\n* confirmed diagnosis of ECD according to the latest international guidelines (Goyal G, Blood 2020)\n* availability of clinical, molecular, treatment and response to therapy data\n* a minimum follow-up period of one year.\n\nExclusion Criteria:\n\n* lack of diagnostic or follow-up data\n* refusal or inability to sign the informed consent form","7 Years",{"count":288,"type":23},1000,"Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis that primarily affects adults but may also occur in pediatric patients. It is characterized by the accumulation of foamy histiocytes with a distinctive immunophenotype in multiple anatomical sites, most commonly the long bones, retroperitoneal and perirenal tissues, the heart, the central nervous system, and the pituitary gland. The disease shows marked clinical heterogeneity, ranging from localized and asymptomatic forms to severe manifestations with multiorgan involvement. From a pathogenetic perspective, ECD is mainly driven by gain-of-function mutations affecting the MAPK and PI3K-AKT pathways, particularly the BRAFV600E mutation, leading to aberrant activation of the MAPK and mTOR signaling pathways. The release of pro-inflammatory cytokines and chemokines plays a key role in systemic inflammation and tissue damage, resulting in significant complications and disability depending on the organs involved.\n\nDespite the significant efforts of international research in recent years, particularly given the extreme rarity of the disease (incidence below 5 cases per 10,000,000 adults per year), substantial knowledge gaps remain, especially with regard to the prediction of long-term outcomes, both in terms of survival and disability. Although some prognostic factors associated with survival have already been identified (such as central nervous system involvement), to date only limited-scale studies have systematically evaluated the prognosis of patients with ECD, focusing in particular on factors influencing organ-specific complications. Moreover, in clinical practice, several aspects that significantly affect patients' quality of life tend to be underestimated, partly due to the time required to perform comprehensive assessments using detailed questionnaires designed to quantify disease-related consequences, such as chronic disability, depression, and cognitive impairment. Nevertheless, there is a growing need for and interest in these parameters, commonly referred to as patient-reported outcomes. In light of these considerations, the development and implementation of a comprehensive prognostic score aimed at predicting survival and long-term disease outcomes could improve the overall assessment of patients and provide more accurate and clinically meaningful prognostic information.",[291],"Erdheim-Chester Disease (ECD)","2026-03-02",{"date":294,"type":42},"2026-03-06",{"date":296,"type":42},"2024-12-23",{"date":298,"type":23},"2028-12",{"name":48,"class":49},7,{"id":302,"slug":303,"hasResults":12,"nctId":304,"briefTitle":305,"officialTitle":306,"acronym":307,"eligibilityCriteria":308,"healthyVolunteers":12,"sex":18,"minAge":119,"maxAge":120,"enrollmentInfo":309,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":310,"conditions":311,"keywords":313,"overallStatus":174,"whyStopped":4,"lastUpdateSubmitDate":314,"lastUpdatePostDateStruct":315,"startDateStruct":316,"completionDateStruct":318,"leadSponsor":320,"locationsCount":4},"100626674","outcomes-of-pediatric-robotic-surgery-at-a-tertiary-childrens-hospital-100626674","NCT07438704","Outcomes of Pediatric Robotic Surgery at a Tertiary Children's Hospital","Outcomes of Pediatric Robotic Surgery at a Tertiary Children's Hospital: A Retrospective Cohort Study","ROB-PED","Inclusion Criteria:\n\n* Age \\\u003C 18 years at the time of surgery\n* Underwent robotic-assisted surgical procedure (digestive, urologic, gynecologic, or thoracic surgery)\n* Surgery performed between January 2025 and December 2025 at Meyer Children's Hospital IRCCS\n* Availability of essential clinical and perioperative data in the medical record\n\nExclusion Criteria:\n\n* Missing essential clinical or postoperative data required for analysis\n* Documented opposition to the use of clinical data for research purposes",{"count":190,"type":23},"This is a single-center retrospective observational cohort study evaluating surgical and clinical outcomes in pediatric patients undergoing robotic surgery at a tertiary children's hospital.\n\nAll consecutive patients younger than 18 years who underwent robotic-assisted procedures (digestive, urologic, gynecologic, or thoracic surgery) between January 2025 and December 2025 at Meyer Children's Hospital IRCCS will be included.\n\nThe primary objective is to describe postoperative complications within 30 days. Secondary objectives include conversion to open surgery, reintervention and readmission rates, length of hospital stay, postoperative pain, recovery parameters, and recurrence of the underlying disease within 12 months.\n\nData will be collected retrospectively from electronic medical records, operative registries, laboratory reports, and follow-up documentation up to 12 months after surgery.",[312],"Robotic Surgical Procedures",[312],"2026-02-27",{"date":292,"type":42},{"date":317,"type":23},"2026-03",{"date":319,"type":23},"2026-12",{"name":48,"class":49},{"id":322,"slug":323,"hasResults":12,"nctId":324,"briefTitle":325,"officialTitle":326,"acronym":4,"eligibilityCriteria":327,"healthyVolunteers":12,"sex":18,"minAge":58,"maxAge":120,"enrollmentInfo":328,"targetDuration":4,"studyType":24,"phases":330,"briefSummary":331,"conditions":332,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":334,"lastUpdatePostDateStruct":335,"startDateStruct":337,"completionDateStruct":339,"leadSponsor":341,"locationsCount":111},"100627599","glueped2024-study-on-the-use-of-peripheral-venous-catheters-in-pediatric-patients-with-emergency-room-access-100627599","NCT07450729","GLUEPED2024: Study on the Use of Peripheral Venous Catheters in Pediatric Patients With Emergency Room Access.","Randomized, Open-label, Parallel-arm, Controlled Study to Evaluate the Stabilization of Peripheral Venous Catheters Through the Application of Cyanoacrylate Skin Adhesive to the Exit Site in Pediatric Patients With Emergency Room Access.","Inclusion Criteria:\n\n* Age 0-18 years old\n* Venous access device for at least 24 hours.\n* Informed consent form signed\n\nExclusion Criteria:\n\n* Patients with language barriers\n* patients with pre-existing central venous access\n* patients requiring immediate surgery with venous access placed under sedation\n* skin lesions in the affected area\n* patients exhibiting psychomotor agitation\n* patients assigned to the emergency code\n* unaccompanied minors",{"count":329,"type":23},300,[26],"A venous access device (VADs) is a biocompatible plastic catheter that establishes a connection between the skin surface and a venous system. They can be categorized using various classifications; notably, based on the position of the catheter tip, they are distinguished into central venous catheters (CVCs) and peripheral venous catheters (PVCs). Depending on their length, PVCs can be further divided into long-cannula PVCs and short-cannula PVCs.\n\nCurrently, these catheters are stabilized \"in situ\" using transparent semipermeable dressings with a high moisture vapor transmission rate (MVTR), which keep the insertion site visible. Considering the pediatric patient population, this type of stabilization is currently somewhat archaic, and accidental displacement of PVCs is frequently encountered, along with subsequent complications such as extravasation, occlusion, phlebitis, and local infections.\n\nThe addition of skin glue to the transparent semipermeable dressing ensures optimal stabilization of the device, reducing dislodgement, further complications, and consequently the need for multiple punctures for repositioning.\n\nDue to various clinical conditions, some patients presenting to the Emergency Department have a venous network that is difficult to identify by direct visualization or palpation. In these patients, the occurrence of an accidental displacement would significantly compromise the quality of care. Currently, there are no studies in the literature conducted in a pediatric emergency department that demonstrate the superiority of using cyanoacrylate glue for PVC stabilization compared to the semipermeable dressing alone. This study aim to investigate the use of cyanoacrylate glue for stabilizing venous access devices in the emergency setting as well, and to evaluate potential improvements to current daily clinical practice.\n\nThe primary objective is to evaluate whether applying cyanoacrylate skin glue at the exit site provides better stabilization of a correctly placed peripheral venous catheter (PVC) compared to PVC stabilization with a transparent semipermeable dressing alone.",[333],"Venous Catheterization","2026-02-26",{"date":336,"type":42},"2026-03-05",{"date":338,"type":42},"2025-01-14",{"date":340,"type":23},"2026-12-31",{"name":48,"class":49},{"id":343,"slug":344,"hasResults":12,"nctId":345,"briefTitle":346,"officialTitle":347,"acronym":348,"eligibilityCriteria":349,"healthyVolunteers":12,"sex":18,"minAge":119,"maxAge":350,"enrollmentInfo":351,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":353,"conditions":354,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":356,"lastUpdatePostDateStruct":357,"startDateStruct":359,"completionDateStruct":361,"leadSponsor":362,"locationsCount":111},"100626358","neonatal-intestinal-obstruction-prenatal-factors-and-postnatal-outcomes-100626358","NCT07434596","Neonatal Intestinal Obstruction: Prenatal Factors and Postnatal Outcomes","Neonatal Intestinal Obstruction: A Retrospective Observational Study on Prenatal Prognostic Factors and Postnatal Outcomes","OIN","Inclusion Criteria:\n\n* Neonates from singleton pregnancies with prenatal ultrasound suspicion of intestinal obstructive pathology\n* Availability of complete postnatal follow-up data\n\nExclusion Criteria:\n\n* Missing delivery data\n* Missing prenatal ultrasound data","28 Days",{"count":352,"type":23},60,"Neonatal intestinal obstruction is one of the most common surgical emergencies in newborns. In some cases, signs of possible intestinal obstruction can already be detected during pregnancy through prenatal ultrasound. However, not all prenatal ultrasound findings accurately predict whether a newborn will truly have an intestinal obstruction after birth.\n\nThe purpose of this retrospective observational study is to evaluate which prenatal ultrasound findings are most strongly associated with confirmed intestinal obstruction after birth. In particular, the study aims to identify a specific cutoff value for fetal bowel dilation that best predicts postnatal intestinal obstruction. Other prenatal ultrasound features, such as excess amniotic fluid (polyhydramnios), ascites, echogenic bowel, and other abdominal findings, will also be analyzed.\n\nThe study will include newborns with a prenatal suspicion of intestinal obstruction who were evaluated at Meyer Children's Hospital between January 2016 and December 2024. Researchers will review existing medical records and ultrasound data. No additional tests or interventions will be performed for study purposes.\n\nThe results of this study may help improve prenatal counseling, optimize delivery planning in specialized centers, and support early postnatal management of newborns at risk for intestinal obstruction.",[355],"Intestinal Obstruction","2026-02-20",{"date":358,"type":42},"2026-02-25",{"date":360,"type":42},"2025-03-11",{"date":319,"type":23},{"name":48,"class":49},{"id":364,"slug":365,"hasResults":12,"nctId":366,"briefTitle":367,"officialTitle":368,"acronym":4,"eligibilityCriteria":369,"healthyVolunteers":12,"sex":18,"minAge":370,"maxAge":120,"enrollmentInfo":371,"targetDuration":4,"studyType":24,"phases":372,"briefSummary":373,"conditions":374,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":384,"lastUpdatePostDateStruct":385,"startDateStruct":387,"completionDateStruct":389,"leadSponsor":390,"locationsCount":111},"100624680","rems25-study-on-the-use-of-rems-technology-in-diseases-commonly-associated-with-reduced-bone-mineral-density-bmd-100624680","NCT07412782","REMS25: Study on the Use of REMS Technology in Diseases Commonly Associated With Reduced Bone Mineral Density (BMD)","Observational Study for the Assessment of Bone Mineral Density (BMD) Using REMS Technology","Inclusion Criteria:\n\n* Written informed consent from adult patients or parents\u002Flegal guardians\n* Age between 5 and 18 years\n* Both sexes and all ethnicities\n* Known condition negatively affecting bone health\n\nExclusion Criteria:\n\n\\- Age below 5 years or over 18 years","5 Years",{"count":190,"type":23},[26],"This study evaluates bone mineral density (BMD) in pediatric patients aged 5-18 years with conditions negatively affecting bone health, using REMS (Radiofrequency Echographic Multi Spectrometry), a non-invasive and radiation-free ultrasound technology. Bone health is crucial during childhood, when peak bone mass develops, and reduced BMD is associated with increased fracture risk. DXA is the current reference method but has limitations in children, including radiation exposure and growth-related measurement issues. REMS has been validated in adults and shows promise in pediatrics, despite the lack of reference values. The study is a single-center, national, non-profit interventional study lasting about 12 months. Participants will undergo REMS BMD measurement, clinical history collection, and assessment of anthropometric and pubertal parameters, with prior DXA data collected when available. The primary aim is to describe BMD values measured by REMS in pediatric osteoporosis, with secondary aims including subgroup analyses and comparison with DXA. A sample of 100 patients is planned. Statistical analyses will assess BMD distributions, correlations with clinical variables, and agreement between REMS and DXA using correlation coefficients and Bland-Altman analysis.",[375,376,377,378,379,380,381,382,383],"Osteogenesis Imperfecta","Osteoporosis","Hypogonadisms","Neoplasia","Obesity & Overweight","Malnutrition (Calorie)","Hypercortisolism","Growth Hormone Deficiency (GHD)","Osteopenia","2026-02-13",{"date":386,"type":42},"2026-02-17",{"date":388,"type":42},"2025-12-04",{"date":340,"type":23},{"name":48,"class":49},{"id":392,"slug":393,"hasResults":12,"nctId":394,"briefTitle":395,"officialTitle":396,"acronym":4,"eligibilityCriteria":397,"healthyVolunteers":12,"sex":18,"minAge":398,"maxAge":86,"enrollmentInfo":399,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":396,"conditions":400,"keywords":405,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":384,"lastUpdatePostDateStruct":407,"startDateStruct":408,"completionDateStruct":410,"leadSponsor":412,"locationsCount":413},"100624679","asmact-study-on-management-of-bronchial-asthma-100624679","NCT07412769","ASMact: Study on Management of Bronchial Asthma","Standardization According to GINA 2025 Recommendations for the Treatment, Management, and Follow-up of Acute Asthma Attacks: Observational, Multicenter Cohort Study.","Inclusion Criteria:\n\n* Age between 6 and 17 years\n* Presentation to the emergency department with a diagnosis of acute asthma exacerbation\n* Evaluation in the emergency department of one of the participating centers during the study periods\n\nExclusion Criteria:\n\n* Age \\\u003C 6 years or \\> 17 years\n* Diagnosis other than acute asthma exacerbation\n* Incomplete or missing clinical data\n* Patients transferred from other hospitals already treated for the same episode\n* history of allergy to any drugs used in the protocol","6 Years",{"count":122,"type":23},[401,402,403,404],"Asthma Acute","Asthma Childhood","Asthma in Children","Asthma Crisis",[406],"asthma attack, exacerbation,",{"date":386,"type":42},{"date":409,"type":42},"2025-11-05",{"date":411,"type":23},"2026-06-30",{"name":48,"class":49},2,{"id":415,"slug":416,"hasResults":12,"nctId":417,"briefTitle":418,"officialTitle":419,"acronym":4,"eligibilityCriteria":420,"healthyVolunteers":421,"sex":18,"minAge":19,"maxAge":120,"enrollmentInfo":422,"targetDuration":4,"studyType":24,"phases":423,"briefSummary":424,"conditions":425,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":428,"lastUpdatePostDateStruct":429,"startDateStruct":431,"completionDateStruct":433,"leadSponsor":435,"locationsCount":111},"100625011","micro-brain-2024-study-on-pediatric-brain-tumors-100625011","NCT07417085","MICRO-BRAIN 2024: Study on Pediatric Brain Tumors","Implications and Applications of Microbiota in Pediatric Brain Tumors","Inclusion Criteria:\n\n* aged between 3 and 18 years with suspected CNS tumour undergoing neurosurgery (intracranial and spinal localisation)\n* Patients who have not undergone prolonged antibiotic or probiotic therapy in the three months prior to sample collection.\n* Signature of informed consent form.\n\nExclusion Criteria:\n\n* personal history of chronic inflammatory bowel disease (colitis, Crohn's disease, ulcerative colitis) and congenital or acquired gastrointestinal diseases (coeliac disease, diverticulitis and diverticulosis, peritonitis, Hirschsprung's disease, short bowel syndrome, intestinal malrotation or duplication, intestinal atresia, omphalocele, presence of stomas, acute gastroenteritis)\n* history of previous cancer-related treatments\n* diagnosis of brain tumour not confirmed by histology (data obtainable post-surgery)",true,{"count":190,"type":23},[26],"In recent years, there has been growing interest in the human gut microbiota, whose health is characterised by high microbial diversity. Through the gut-brain axis, the microbiota influences the homeostasis of the central nervous system by regulating neurological, immune and epigenetic functions. Intestinal dysbiosis is associated with various neurological and oncological diseases, including paediatric diseases and colorectal cancer. Recent studies highlight a significant link between microbiota and brain tumours: cancer patients show reduced microbial richness and altered bacterial composition. In addition, an intratumoural microbial population has been identified that can influence tumour initiation, progression and response to therapies by modulating tumour cells and the immune system. The aim of this study is to analyse stool samples to study the microbiota in children suspected CNS brain tumor as there are currently no studies of this kind reported in the literature to assess whether microbial changes can be detected at diagnosis, can be found during the course of the disease or are associated with tumour progression.",[426,427],"Brain Tumor","Microbiota","2026-02-10",{"date":430,"type":42},"2026-02-18",{"date":432,"type":42},"2025-02-06",{"date":434,"type":23},"2027-10",{"name":48,"class":49},{"id":437,"slug":438,"hasResults":12,"nctId":439,"briefTitle":440,"officialTitle":441,"acronym":4,"eligibilityCriteria":442,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":120,"enrollmentInfo":443,"targetDuration":4,"studyType":24,"phases":444,"briefSummary":445,"conditions":446,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":428,"lastUpdatePostDateStruct":450,"startDateStruct":451,"completionDateStruct":453,"leadSponsor":455,"locationsCount":111},"100625010","genodrugp-2025-study-on-three-dimensional-models-derived-from-brain-tumors-in-pediatric-patients-100625010","NCT07417072","GenoDrugP 2025: Study on Three-dimensional Models Derived From Brain Tumors in Pediatric Patients","Preliminary Study With Biological Samples, Single-center, Non-profit, to Identify Biological Mechanisms and Resistance to Therapies in Three-dimensional Models Derived From Brain Tumors in Pediatric Patients.","Inclusion Criteria:\n\n* Patients aged 3-18 years with suspected brain tumours undergoing neurosurgery\n* No previous bone marrow transplants or other haematological procedures that could potentially interfere with germline analysis.\n* Patients who have not received any systemic anticancer treatment (including chemotherapy, radiotherapy or targeted therapies) prior to enrolment surgery.\n* Signature of informed consent\n\nExclusion Criteria:\n\n* Subsequent histological confirmation of non-neoplastic brain pathology (e.g. malformations, inflammatory lesions, demyelinating processes).\n* Insufficient quantity or quality of tumour tissue or peripheral blood for the analyses required by the protocol.\n* Presence of serious clinical conditions, systemic infections or haemodynamic instability that contraindicate the collection of biological samples or inclusion in the study.",{"count":61,"type":23},[26],"Central nervous system tumours are the most common solid tumours and the leading cause of cancer mortality in children, with high biological and prognostic heterogeneity. Despite advances in the 2021 WHO molecular classifications, treatment options remain limited and often ineffective in high-grade tumours. New third-generation sequencing technologies and three-dimensional models derived from patient tumours offer promising tools for more comprehensive genomic characterisation and preclinical evaluation of drug responses. However, the lack of integrated preclinical studies remains a limitation, necessitating coordinated projects to develop personalised therapeutic strategies. The study aims to investigate the genetic and biological characteristics of paediatric brain tumours. To this end, tumour tissue samples taken during planned surgery and peripheral blood samples will be analysed. Advanced genetic analyses will be performed on these materials to identify tumour alterations and the patient's genetic characteristics. In addition, experimental in vitro models derived from the tumour will be developed to evaluate the response to different chemotherapy drugs. The information obtained will be used to better understand the mechanisms of tumour growth and resistance and to promote the future development of more targeted and personalised therapies.",[447,448,449],"Pediatric Brain Tumors","Genomics","Epigenetic",{"date":430,"type":42},{"date":452,"type":42},"2025-10-21",{"date":454,"type":23},"2026-10",{"name":48,"class":49},{"id":457,"slug":458,"hasResults":12,"nctId":459,"briefTitle":460,"officialTitle":461,"acronym":4,"eligibilityCriteria":462,"healthyVolunteers":12,"sex":18,"minAge":463,"maxAge":86,"enrollmentInfo":464,"targetDuration":4,"studyType":24,"phases":465,"briefSummary":466,"conditions":467,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":469,"lastUpdatePostDateStruct":470,"startDateStruct":471,"completionDateStruct":473,"leadSponsor":474,"locationsCount":111},"100623757","tedorg-study-on-short-bowel-syndrome-100623757","NCT07400783","TED_ORG: Study on Short Bowel Syndrome","Short Bowel Syndrome: Human Intestinal Organoids to Investigate the Different Efficacy of the GLP-2 Analogue Teduglutide in Pediatric Patients With Short Bowel Syndrome","Inclusion Criteria:\n\n* Patients or His\u002Fher Parents\u002F legal guardian must provide informed consent before they can participate in the study.\n* Paediatric patients: Male and female patients aged ≥ 4 months old and ≤ 18 years;\n* SBS patient or patient undergoing intestinal resective surgery\n\nExclusion Criteria:\n\n* Adult patients (≥ 18 years old);\n* Patients who have never undergone intestinal resective surgery\n* Current or past use of teduglutide","4 Months",{"count":61,"type":23},[26],"The goal of this clinical trial is to understand why pediatric patients with short bowel syndrome respond differently to treatment with the glucagon-like peptide-2 (GLP-2) analogue teduglutide. Short bowel syndrome is a rare and severe condition in children that results from extensive intestinal resection and leads to impaired nutrient absorption, chronic diarrhea, and dependence on parenteral nutrition. Although teduglutide is known to promote intestinal adaptation and improve absorption, the clinical response varies widely among patients, and the biological mechanisms underlying this variability are not fully understood.\n\nThis study aims to investigate the effects of teduglutide using human intestinal organoids derived from intestinal tissue samples of pediatric patients with short bowel syndrome. Intestinal organoids are three-dimensional structures grown from patient-derived stem cells that reproduce key structural and functional characteristics of the human intestine. These organoids provide a human-based experimental model that allows the study of intestinal morphology, cellular behavior, and nutrient absorption in a controlled in vitro environment.\n\nThe main questions this study aims to answer are:\n\nDoes treatment with teduglutide improve the absorptive capacity of human intestinal organoids derived from pediatric patients with short bowel syndrome?\n\nAre there differences in intestinal structure, cellular proliferation, and gene expression between teduglutide-treated organoids and untreated organoids?\n\nAre specific molecular or cellular features associated with different responses to teduglutide?\n\nResearchers will compare intestinal organoids treated with teduglutide to untreated organoids obtained from the same patients. This comparison will be used to evaluate changes in organoid morphology, expression of receptors involved in intestinal growth and absorption, activity of nutrient transporters, and overall absorptive function. The study will also explore differences between organoids derived from patients who show different clinical responses to teduglutide.\n\nParticipants in this study are pediatric patients with short bowel syndrome or patients undergoing intestinal resection surgery as part of their standard clinical care. No experimental treatment is administered directly to participants as part of this study. Intestinal tissue samples are collected only during clinically indicated surgical procedures and are not obtained specifically for research purposes.\n\nParticipants will:\n\nProvide intestinal tissue samples collected during routine or clinically indicated intestinal surgery\n\nHave intestinal organoids generated from their tissue samples using established laboratory techniques\n\nHave their organoids studied in vitro with and without exposure to teduglutide to evaluate intestinal structure, gene and protein expression, and nutrient absorption mechanisms\n\nThe results of this study are expected to improve understanding of the biological mechanisms underlying variable responses to teduglutide and may contribute to the development of more personalized treatment strategies for pediatric patients with short bowel syndrome in the future.",[468],"Short Bowel Syndrome (SBS)","2026-02-06",{"date":428,"type":42},{"date":472,"type":42},"2024-10-30",{"date":454,"type":23},{"name":48,"class":49},{"id":476,"slug":477,"hasResults":12,"nctId":478,"briefTitle":479,"officialTitle":480,"acronym":4,"eligibilityCriteria":481,"healthyVolunteers":12,"sex":18,"minAge":286,"maxAge":482,"enrollmentInfo":483,"targetDuration":4,"studyType":24,"phases":485,"briefSummary":486,"conditions":487,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":490,"lastUpdatePostDateStruct":491,"startDateStruct":493,"completionDateStruct":495,"leadSponsor":497,"locationsCount":111},"100623458","keto-tumor-a-study-on-brain-tumors-and-central-obesity-100623458","NCT07396896","KETO-TUMOR: a Study on Brain Tumors and Central Obesity","Single-arm, Open-label, Single-center, Non-profit Interventional Clinical Trial on the Effects of the Ketogenic Diet in Patients With Brain Tumors and Central Obesity","Inclusion Criteria:\n\n1. Diagnosis of hypothalamic-chiasmatic tumour according to the WHO 2021 classification\n2. Diagnosis of hypothalamic obesity: after 5 years of age, BMI \\>97th percentile in the WHO 2007 curves\n3. Males and females aged between 7 and 30 years\n4. Performance status: Lansky score \\> 40 for patients aged \\\u003C 18 years and Karnofsky score \\> 40 for patients aged between 18 and 30 years\n5. Signature of informed consent to participate in the study\n6. Signature of consent by the minor patient to participate in the study (7-13 years and 14-17 years).\n\nExclusion Criteria:\n\n1\\. Deficiencies of:\n\n* Primary carnitine\n* Carnitine palmitoyltransferase 2 (CPT 2)\n* Carnitine acylcarnitine translocase (CACT)\n* Beta-oxidation\n* Medium-chain acyl-CoA dehydrogenase (MCAD)\n* long-chain acyl-CoA dehydrogenase (LCAD)\n* short-chain acyl-CoA dehydrogenase (SCAD)\n* porphyria\n* pyruvate carboxylase\n* long-chain 3-hydroxyacyl-CoA dehydrogenase.","30 Years",{"count":484,"type":23},30,[26],"Hypothalamic-chiasmatic tumours account for 5-10% of CNS tumours in children and can compromise hypothalamic function, causing alterations in energy balance and weight gain. In inoperable cases, chemotherapy and radiotherapy are used; the latter, although the gold standard, is associated with significant neurocognitive and endocrine-metabolic side effects, proportional to the hypothalamic damage.\n\nThe ketogenic diet, used for decades in the treatment of drug-resistant childhood epilepsy, induces the use of ketone bodies as a source of energy for the brain and is effective in controlling seizures. Among the different variants, the modified Atkins diet was chosen in this study to promote better patient adherence.\n\nThis study aims to evaluate the effectiveness of the ketogenic diet (KD) in treating central obesity secondary to hypothalamic-chiasmatic tumours (gliomas, craniopharyngiomas, germ cell tumours, etc.), which often lead to excessive weight gain. This is refractory to drug therapy and lifestyle changes, such as low-calorie diets and exercise.",[488,489],"Obese Patients","Hypothalamic Neoplasms","2026-02-02",{"date":492,"type":42},"2026-02-09",{"date":494,"type":42},"2025-05-08",{"date":496,"type":23},"2028-04",{"name":48,"class":49},{"id":499,"slug":500,"hasResults":12,"nctId":501,"briefTitle":502,"officialTitle":503,"acronym":4,"eligibilityCriteria":504,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":505,"targetDuration":4,"studyType":24,"phases":507,"briefSummary":508,"conditions":509,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":512,"lastUpdatePostDateStruct":513,"startDateStruct":515,"completionDateStruct":517,"leadSponsor":518,"locationsCount":111},"100621768","col4a1col4a2-study-of-pathological-conditions-involving-multiple-organs-caused-by-mutations-in-the-col4a1-and-col4a2-genes-100621768","NCT07374913","COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes","Study of the Familial Phenotype Associated With Mutations in the COL4A1 and COL4A2 Genes","Inclusion Criteria:\n\n* Individuals (pediatric or adult) with a pathogenic or likely pathogenic mutation in the COL4A1 or COL4A2 genes and a clinical phenotype consistent with small vessel disease.\n* Adult first-degree family members (parents, siblings, or children) who are confirmed carriers or suspected carriers of the same COL4A1\u002FCOL4A2 mutation.\n* Adult first-degree family members who are non-carriers of the pathogenic mutation and who agree to provide a blood sample to be used as controls for laboratory analyses.\n* Ability to provide written informed consent; for minors, consent provided by a parent or legal guardian.\n\nExclusion Criteria:\n\n* Refusal or inability to provide informed consent.\n* Individuals who do not meet the inclusion criteria above.\n* Any condition that, in the opinion of the investigators, would preclude participation in study procedures or reliable data collection.",{"count":506,"type":23},120,[26],"This observational and diagnostic study aims to better understand the clinical features and biological mechanisms associated with mutations in the COL4A1 and COL4A2 genes, which are known to cause a rare inherited small-vessel disease affecting the brain and other organs. These mutations can lead to a wide range of symptoms involving the brain, eyes, heart, blood vessels, kidneys, and muscles, and affected individuals within the same family may show very different clinical manifestations.\n\nThe study will systematically collect clinical and diagnostic information from individuals with confirmed COL4A1\u002FCOL4A2 mutations and their first-degree family members, including both affected and unaffected relatives. Family members who carry, or may carry, the mutation will be offered non-invasive eye and heart examinations to detect early or previously unrecognized organ involvement.\n\nIn addition, blood samples will be analyzed to study the activity of specific enzymes called matrix metalloproteinases (MMP2 and MMP9), which are thought to play a role in blood vessel damage in this condition. By linking genetic findings, clinical features, and laboratory data, the study seeks to clarify how these mutations cause disease and to identify early signs of organ involvement.\n\nThe overall goal of the study is to improve early diagnosis, guide the development of routine multi-organ screening strategies for affected individuals and families, and support future research toward targeted treatments.",[510,511],"COL4A1\\2","COL4A1-Related Brain Small Vessel Disease With Haemorrhage","2026-01-28",{"date":514,"type":42},"2026-01-30",{"date":516,"type":42},"2021-05-01",{"date":319,"type":23},{"name":48,"class":49},{"id":520,"slug":521,"hasResults":12,"nctId":522,"briefTitle":523,"officialTitle":524,"acronym":4,"eligibilityCriteria":525,"healthyVolunteers":12,"sex":18,"minAge":526,"maxAge":482,"enrollmentInfo":527,"targetDuration":4,"studyType":24,"phases":529,"briefSummary":531,"conditions":532,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":540,"lastUpdatePostDateStruct":541,"startDateStruct":543,"completionDateStruct":545,"leadSponsor":547,"locationsCount":548},"100621931","phase-3-tap-grin-interventional-study-on-patients-with-grin-related-neurodevelopmental-disorders-100621931","NCT07377032","TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders","L-serine Supplementation in Patients With GRIN-related Neurodevelopmental Disorders: Multicentre Protocol for an Aggregated Series of Randomised, Placebo-controlled N-of-1 Trials","Inclusion Criteria:\n\n* Clinical diagnosis of a GRIN-related neurodevelopmental disorder (GRIN-NDD)\n* Presence of a pathogenic or likely pathogenic loss-of-function (LoF) variant in GRIN1, GRIN2A, GRIN2B, or GRIN2D\n* Parent(s), caregiver(s), or legally authorised representative(s) have been informed of the nature of the study and have provided written informed consent.\n* Participants who are able to do so have provided written informed consent or assent, according to local regulations and cognitive capacity.\n* Parent(s)\u002Fcaregiver(s) are willing and able to comply with study procedures and visits, in the opinion of the investigator.\n* Participants who have previously received L-serine supplementation are willing to discontinue L-serine for at least one week prior to the baseline observation period.\n\nExclusion Criteria:\n\n* Age younger than 2 years at screening.\n* Known hypersensitivity or intolerance to L-serine, placebo, or any excipients used in the study formulations.\n* Presence of a clinically significant unstable medical condition (other than epilepsy) that, in the investigator's judgement, may place the participant at increased risk or interfere with study participation.\n* Any other significant disease or disorder that may compromise participant safety, affect study outcomes, or impair the participant's ability to complete the study procedures.\n* Inadequate supervision by parent(s) or caregiver(s), as judged by the investigator.\n* Participation in another clinical trial involving an investigational medicinal product within the previous 6 months.\n* Female participants who are pregnant or breastfeeding.\n* Presence of a GRIN1, GRIN2A, GRIN2B, or GRIN2D variant for which a clear loss-of-function effect cannot be demonstrated.","2 Years",{"count":528,"type":23},40,[530],"PHASE3","The goal of this clinical study is to find out whether L-serine dietary supplementation helps improve overall clinical functioning in children and young adults (2-30 years) with GRIN-related neurodevelopmental disorders (GRIN-NDD) caused by loss-of-function (LoF) variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D. It will also assess the safety and tolerability of L-serine.\n\nThe main questions it aims to answer are:\n\nDoes L-serine improve overall clinical status, measured mainly by the Clinical Global Impression-Severity (CGI-S) score?\n\nDoes L-serine improve behaviour, cognition, adaptive functioning, motor skills, sleep, and (in those with epilepsy) seizure frequency and EEG findings?\n\nWhat side effects or medical problems occur during L-serine compared with placebo?\n\nDo neurophysiological measures (including TMS-EMG\u002FTMS-EEG) change with treatment and potentially act as biomarkers of response?\n\nResearchers will compare L-serine to a placebo (maltodextrin powder with similar appearance\u002Ftexture) using a randomised, double-blind, placebo-controlled \"n-of-1\" approach, where each participant receives both treatments in alternating periods. Results from multiple single-patient trials will then be combined (aggregated) to estimate the overall treatment effect across the study population.\n\nParticipants will:\n\nComplete a 4-week baseline period with assessments (and seizure diary use where applicable)\n\nReceive L-serine and placebo in alternating 3-month periods within each cycle (minimum 2 cycles, up to 4 cycles; each cycle lasts 6 months)\n\nTake the assigned study product by mouth 3 times per day at 500 mg\u002Fkg\u002Fday (maximum 30 g\u002Fday for participants ≥60 kg)\n\nHave the first 7 days of each 3-month period treated as washout, with data from that week not analysed\n\nAttend regular clinic visits for clinical exams, safety labs, and standardized assessments of global status, behaviour\u002Fcognition, motor function, and sleep\n\nIf they have epilepsy: keep a seizure diary and undergo EEG assessments after each treatment period\n\nIn some sites (Italy and France): undergo TMS-based neurophysiology testing\n\nOptionally, a subset may join a cellular biomarker substudy (blood collection to generate iPSC-derived neuronal models and organoids) to explore treatment effects in variant-specific lab models.",[533,534,535,536,537,538,539],"GRIN-related Disorders","GRIN1","GRIN2A","GRIN2B","GRIN2D","Epilepsy","Neurodevelopmental Disorder (Diagnosis)","2026-01-26",{"date":542,"type":42},"2026-01-29",{"date":544,"type":42},"2025-08-29",{"date":546,"type":23},"2028-06",{"name":48,"class":49},3,{"id":550,"slug":551,"hasResults":12,"nctId":552,"briefTitle":553,"officialTitle":553,"acronym":4,"eligibilityCriteria":554,"healthyVolunteers":12,"sex":18,"minAge":526,"maxAge":4,"enrollmentInfo":555,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":556,"conditions":557,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":559,"lastUpdatePostDateStruct":560,"startDateStruct":561,"completionDateStruct":563,"leadSponsor":565,"locationsCount":207},"100620875","impact-of-elexacaftor-tezacaftor-ivacaftor-treatment-on-metabolic-epigenetic-and-fecal-microbiota-profiles-in-people-with-cystic-fibrosis-100620875","NCT07363304","Impact of Elexacaftor-Tezacaftor-Ivacaftor Treatment on Metabolic, Epigenetic and Fecal Microbiota Profiles in People With Cystic Fibrosis.","Inclusion Criteria:\n\n* Patients with CF, of any age, about to start ETI therapy, in accordance with marketing authorization Italian legislative directives, followed at the participating CF centers.\n* Obtaining informed consent.\n\nExclusion Criteria:\n\n* CF patients not in ETI therapy and CF patients already in ETI therapy.",{"count":169,"type":23},"Cystic Fibrosis (CF) is a genetic disease that affects multiple organs and systems. In recent years, the marketing of CFTR protein modulator drugs, such as the Elexacaftor-Tezacaftor-Ivacaftor (ETI) combination, has significantly improved patients' quality of life and prognosis. ETI, currently prescribed in Italy for CF patients over six years of age with at least one F508del mutation, has shown improvements in lung function, nutritional status, and a reduction in pulmonary exacerbations. In the coming months, ETI will be prescribable for patients aged $\\\\ge$ 2 years with at least one F508del mutation; furthermore, the EMA recently approved its use in all patients aged $\\\\ge$ 2 years, including those with mutations other than F508del (excluding patients with homozygous Class I mutations).Recent studies also highlight an impact on systemic metabolism, with an increase in blood cholesterol levels, blood pressure, and nutritional status, leading to a marked increase in patients with obesity. This could result in an increased long-term cardiovascular risk, especially in children with CF. Additionally, early data show that ETI also induces changes in the gut microbiota and epigenetic modifications by altering DNA methylation, particularly in genes crucial for the onset of CF-related complications, such as diabetes.The gut microbiota of CF patients differs from that of healthy controls, and ETI appears to improve microbial diversity while reducing intestinal inflammation and antibiotic resistance genes. Although ETI-related adverse events are mostly mild and similar to typical respiratory exacerbation symptoms (cough, headache, pharyngodynia, or transient bronchospasm), concerning side effects such as neuropsychiatric effects, intracranial hypertension, or liver failure have also been reported. Currently, it is not possible to predict which patients are at a higher risk of adverse events, but it is known that some of these are related to the blood levels of ETI's individual components. Therefore, monitoring these levels could be useful for dose optimization and reducing the risk of adverse events.Despite the publication of numerous real-world studies on the efficacy and safety of ETI and the sharing of recent standards of care for CF patients on modulator therapy, prospective studies are desirable, especially in the pediatric population. These are needed to monitor metabolic and epigenetic parameters, as well as changes in the fecal microbiota, correlating them with the blood levels of individual ETI components.",[558],"Cystic Fibrosis (CF)","2026-01-23",{"date":540,"type":42},{"date":562,"type":42},"2025-12-02",{"date":564,"type":23},"2029-04-30",{"name":48,"class":49},{"id":567,"slug":568,"hasResults":12,"nctId":569,"briefTitle":570,"officialTitle":571,"acronym":572,"eligibilityCriteria":573,"healthyVolunteers":12,"sex":18,"minAge":574,"maxAge":575,"enrollmentInfo":576,"targetDuration":4,"studyType":24,"phases":578,"briefSummary":579,"conditions":580,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":582,"lastUpdatePostDateStruct":583,"startDateStruct":584,"completionDateStruct":586,"leadSponsor":588,"locationsCount":413},"100621847","clinical-biochemical-and-epigenetic-profile-of-pediatric-behet-disease-100621847","NCT07375940","Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease","Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease: Similarities and Differences From Adult Patients and Looking for Potential Biomarkers.","PED-BD","Cases Inclusion Criteria :\n\n* BD diagnosis according to at least one of the three sets of classification criteria \\[International Criteria for Behçet's Disease (ICBD), International Study Group (ISG) and Pediatric Behçet's disease criteria PEDBD)\\];\n* Age 6 months to 70 years old.\n* Written informed consent from appropriate legal representative(s), and assent from patients who have not reached the age of consent.\n\nCases Exclusion Criteria:\n\n* Patients who do not meet the BD criteria OR\n* Patients for whom an alternative diagnosis was not investigated and\u002For excluded OR\n* Absence of a written informed consent.\n\nHealthy pediatric controls:\n\n* Patients evaluated at the Meyer Children's Hospital IRCCS Rheumatology Outpatient Clinic who are scheduled to undergo routine hematochemical tests, not for suspected inflammatory or autoimmune conditions.\n* Age \\\u003C 18 years, matched 1:1 by age and sex with the pediatric Behçet disease (BD) cohort.\n* Absence of recent or ongoing inflammatory conditions, verified through structured medical history and physical examination.\n* No clinical signs suggestive of chronic autoinflammatory or autoimmune diseases at physical examination .\n* No recent prolonged use (more than 7 consecutive days within the past 4 weeks) of anti-inflammatory, glucocorticoids, immunomodulatory, therapies or antibiotics.\n* Written informed consent from the legal guardian(s) and assent from minors when appropriate.\n\nHealthy Controls Exclusion Criteria\n\n* Diagnosis of acute or chronic inflammatory, autoimmune, or autoinflammatory conditions after the collection of structured medical history and physical examination\n* Current or recent prolonged use (more than 7 consecutive days within the past 4 weeks) of anti-inflammatory drugs, gluccocorticoids, immunomodulatory agents, or antibiotics.\n* Routine blood tests not performed during the visit.\n* Absence of written informed consent.","6 Months","70 Years",{"count":577,"type":23},90,[26],"Behçet disease (BD) is a chronic multisystem inflammatory disorder with a relapsing-remitting course. Pediatric-onset BD is rare and characterized by marked clinical heterogeneity, frequent incomplete presentation at disease onset, and limited availability of pediatric-specific outcome measures and biomarkers.\n\nThis prospective multicenter study aims to comprehensively characterize the clinical, biochemical, genetic, and epigenetic profiles of pediatric patients with Behçet disease and to compare them with adult BD patients and healthy pediatric controls.\n\nThe study focuses on the identification of disease-associated cytokine patterns, circulating microRNA profiles, DNA methylation signatures, and genetic variants associated with monogenic autoinflammatory diseases presenting with a Behçet-like phenotype.\n\nBy integrating clinical data with multi-omic analyses, this study seeks to identify biologically and clinically meaningful patient subgroups, improve disease stratification, and explore potential biomarkers of disease activity and remission in pediatric Behçet disease.",[581],"Behcet Disease and Vascular Involvement","2026-01-22",{"date":542,"type":42},{"date":585,"type":42},"2026-01-12",{"date":587,"type":23},"2036-01",{"name":48,"class":49},{"id":590,"slug":591,"hasResults":12,"nctId":592,"briefTitle":593,"officialTitle":594,"acronym":4,"eligibilityCriteria":595,"healthyVolunteers":12,"sex":18,"minAge":596,"maxAge":86,"enrollmentInfo":597,"targetDuration":4,"studyType":89,"phases":4,"briefSummary":598,"conditions":599,"keywords":601,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":607,"lastUpdatePostDateStruct":608,"startDateStruct":610,"completionDateStruct":612,"leadSponsor":613,"locationsCount":413},"100490499","alexithymia-and-attachment-style-in-patients-with-somatic-symptoms-100490499","NCT05666921","Alexithymia and Attachment Style in Patients With Somatic Symptoms","Somatic Symptoms, Alexithymia and Styles of Attachment: a Cross-sectional Study","Inclusion Criteria:\n\n* Clinical condition characterized by somatic symptoms such as recurrent abdominal pain, recurrent vomiting, dyspepsia, psychogenic cough, and chronic functional pain (headache, migraine, musculoskeletal pain) for which an organic cause has been excluded and whose symptom has had a strong impact on the quality of life (presence of the symptom for six months, school absenteeism, social isolation, immobility, psychological distress, difficulty in participating in sports and extracurricular activities, etc.), as per Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria.\n* Age between 11 and 17 years\n* Italian speaking\n* Patients' and parents' consent\n\nExclusion Criteria:\n\n* Cognitive and\u002For developmental impairment\n* Difficulty in understanding the Italian language\n* Presence of organic disease diagnosis\n* Lack of informed consent\n* Patient who does not meet DSM-5 criteria for somatic symptom disorder\n\nCaregiver exclusion criteria:\n\n* Cognitive deficits\n* Difficulty in understanding the Italian language\n* Lack of informed consent\n\nControl group population inclusion criteria:\n\n* Age between 11 and 17 years\n* Adequate knowledge of the Italian language\n* Consent to participate","11 Years",{"count":329,"type":23},"To evaluate whether emotional awareness, attachment style and the ability to abstract and symbolize (IQ) influence the appearance of somatic symptoms. Hypothesis: the investigators expect the presence of somatic symptoms linked to the lower ability of emotional awareness, to lower ability to abstract and symbolize and to an insecure attachment style.",[600],"Somatic Symptom Disorder",[602,603,604,605,606],"somatic symptoms","alexithymia","attachment style","pain","reflective function","2025-09-24",{"date":609,"type":42},"2025-09-26",{"date":611,"type":42},"2021-06-15",{"date":319,"type":23},{"name":48,"class":49},""]