[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"lymphatic-abnormalities\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:lymphatic-abnormalities":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,51,82],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":27,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":39,"lastUpdatePostDateStruct":40,"startDateStruct":43,"completionDateStruct":45,"leadSponsor":47,"locationsCount":50},"100495434","a-prospective-natural-history-study-of-lymphatic-anomalies-100495434",false,"NCT05731141","A Prospective Natural History Study of Lymphatic Anomalies","* INCLUSION CRITERIA:\n\nAffected (Proband)\n\nIn order to be eligible to participate in this study, an individual must meet one of the following criteria as determined after review of medical history:\n\n* Current or history of lymphatic anomaly or symptoms suggestive of a lymphatic disorder Or\n* An ill-defined vascular anomaly that is suspected to have an abnormal lymphatic component Or\n* A pathogenic, likely pathogenic, or VUS in a genetic disorder with a known lymphatic component Or\n* Clinical diagnosis of a syndrome with a known lymphatic component\n\nUnaffected (First Degree Relatives: Parents and Siblings)\n\nGenetic variants underlying complex lymphatic anomalies can be passed down through parents or be new in a child (de novo). Inclusion of first-degree relatives will assist in genetic analysis to delineate whether the variant is inherited or de novo.\n\nTo be eligible to participate as a first degree relative in this study, an individual must be a first-degree family member of an affected participants\n\nEXCLUSION CRITERIA:\n\nAffected Proband\n\nAn individual who meets any of the following criteria will be excluded from participation in this study after review of medical history, concomitant medication and allergy review, anthropometrics, and performance status:\n\n-Any condition, in the opinion of the investigator, that would increase risk of participation or impair their ability to comply with protocol requirements.\n\nLymphatic anomalies that are definitively determined to be secondary by the principal investigator will be excluded from this study. For example, participants who develop a lymphedema after breast cancer surgery.\n\nUnaffected (First Degree Relatives)\n\n-Any condition, in the opinion of the investigator, that would increase risk of participation or impair their ability to comply with protocol requirements.",true,"ALL","1 Day","100 Years",{"count":20,"type":21},1200,"ESTIMATED","OBSERVATIONAL","Background:\n\nThe lymphatic system is a network of vessels that carry a clear fluid called lymph through the body. Problems in the lymphatic system can cause pain, fluid buildup, and issues with immunity. There is much researchers do not understand about lymphatic anomalies. In this natural history study, they will collect data from a lot of people over a long time.\n\nObjective:\n\nTo better understand why lymphatic anomalies develop. The goal is to improve future treatments.\n\nEligibility:\n\nPeople aged 0 days and older with a suspected or confirmed lymphatic anomaly. Their unaffected parents or siblings aged 7 years or older are also needed.\n\nDesign:\n\nParticipants may remain in the study indefinitely. Affected participants may be evaluated every 10 months to 2 years. Some participants will be seen over telemedicine. Others will be seen at the NIH Clinical Center for 2-5 days.\n\nAll participants will have a physical exam. They may provide specimens including blood, saliva, hair follicles, stool, skin, and other tissues. Samples may be used for genetic testing.\n\nParticipants may undergo other tests depending on their medical conditions. The NIH Clinical Center visit may include:\n\nHeart tests include placing stickers on the chest to measure electrical activity and using sound waves to capture pictures of the heart.\n\nA lung test measures the muscle strength in the chest. Participants will blow into a tube.\n\nPhotographs may be taken of participants faces and other features.\n\nImaging scans will take pictures of the inside of the body. One scan will measure bone density.\n\nOne type of scan tracks how lymph fluid moves through the body. Participants will be under anesthesia, and they will be injected with a dye.",[25,26],"Lymphatic Diseases","Lymphatic Abnormalities",[28,29,30,31,32,33,34,35,36,37],"Protein Losing Enteropathy","Lymphedema","Lymphangiectasia","Kaposiform Lymphangiomatosis","Gorham Stout Disease","Generalized Lymphatic Anomaly","Complex Lymphatic Anomaly","Chylous Effusion","Chylous Ascites","Central Conducting Lymphatic Anomaly","RECRUITING","2026-06-24",{"date":41,"type":42},"2026-06-25","ACTUAL",{"date":44,"type":42},"2023-03-20",{"date":46,"type":21},"2028-12-31",{"name":48,"class":49},"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",2,{"id":52,"slug":53,"hasResults":11,"nctId":54,"briefTitle":55,"officialTitle":56,"acronym":57,"eligibilityCriteria":58,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":59,"targetDuration":61,"studyType":22,"phases":4,"briefSummary":62,"conditions":63,"keywords":67,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":71,"lastUpdatePostDateStruct":72,"startDateStruct":74,"completionDateStruct":76,"leadSponsor":78,"locationsCount":81},"100603036","european-registry-study-on-lymphatic-interventions-100603036","NCT07131293","European Registry Study on Lymphatic Interventions","European Registry Study on Lymphatic Interventions: Towards Standardized Care in CHD-Related Lymphatic Disorders","EURO-LYMPH","Inclusion Criteria:\n\n* Patients of any age with a confirmed central lymphatic disorder, either in the context of CHD or as a primary lymphatic disorder, verified through lymphatic diagnostics (e.g. lymphatic imaging or relevant biomarkers).\n* Patients who have undergone, or are undergoing, diagnostic lymphatic imaging and\u002For interventional procedures for their lymphatic disorder.\n* Patients who are receiving, or have received, conservative (non-interventional) management for their lymphatic disorder.\n\nExclusion Criteria:\n\n* Patients with isolated peripheral lymphatic disorders not involving the central lymphatic system.\n* Patients with acute postoperative iatrogenic chylothorax (\\\u003C3-4 weeks duration and not requiring intervention).\n* Patients without sufficient clinical documentation to confirm diagnosis, treatment, or follow-up.\n* Patients who decline, or whose legal guardians decline, to provide informed consent (for prospective inclusion).",{"count":60,"type":21},500,"5 Years","This European multicenter observational study aims to evaluate the real-world use, timing, and outcomes of lymphatic interventions in patients with congenital heart disease and\u002For primary lymphatic disorders. The study will examine the effectiveness of diagnostic imaging and interventional techniques, such as lymphatic embolization, in improving clinical symptoms, biomarkers, and fluid-related complications. The central question is whether early diagnosis and targeted intervention can lead to clinically meaningful improvements and reduced need for reintervention. Data collected retrospectively and prospectively from participating centers will help identify predictors of outcome, assess disease severity, and inform standardized diagnostic and therapeutic pathways across Europe.",[64,65,28,66,26],"Lymphatic Disorders","Plastic Bronchitis","Chylothorax",[68,69,70,28,66],"Lymphatic complications","Multicenter study","Plastic bronchitis","2026-01-19",{"date":73,"type":42},"2026-01-21",{"date":75,"type":21},"2026-02-01",{"date":77,"type":21},"2030-03",{"name":79,"class":80},"Rigshospitalet, Denmark","OTHER",1,{"id":83,"slug":84,"hasResults":11,"nctId":85,"briefTitle":86,"officialTitle":87,"acronym":88,"eligibilityCriteria":89,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":18,"enrollmentInfo":90,"targetDuration":4,"studyType":92,"phases":93,"briefSummary":95,"conditions":96,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":100,"lastUpdatePostDateStruct":101,"startDateStruct":103,"completionDateStruct":105,"leadSponsor":107,"locationsCount":81},"100584716","institution-of-an-italian-registry-and-biobank-for-biological-sample-collection-100584716","NCT06892964","Institution of an Italian Registry and Biobank for Biological Sample Collection","Prospective and Retrospective Clinical Study of Lymphatic Malformations: Institution of an Italian REGistry of Lymphatic Malformations and of a Biobank for Biological Sample Collection","IReg-LM","Inclusion Criteria:\n\n1. Age 0-100 years\n2. Signed informed consent.\n3. Individuals with any type of ML (isolated, syndromic, congenital or acquired, with or without molecular confirmation) identified by participating centers\n\nExclusion Criteria:\n\n* Patients whose clinical picture is not compatible with points a) (b) and (c) of the inclusion criteria, as assessed by the Investigator.",{"count":91,"type":21},70,"INTERVENTIONAL",[94],"NA","Lymphatic malformations (ML), are benign non-neoplastic, rare, resulting from an embryologic abnormal development of the lymphatic system. Sometimes they may be associated with other vascular malformations (venous or arterial)1,2. ML usually appear at birth, in early childhood or during the first years of life (congenital vs. acquired) and are mainly localized in the region of the head and neck, armpits, groin, retroperitoneal tissues, tongue and mucous membranes of the oral cavity since these areas contain a plethora of lymphatic structures1. The main complications due to their location are airway obstruction, difficulty in eating, and bleeding3-5. Infection and bleeding can promote the sudden, progressive and accelerated growth of these lesions1. The location, speed of growth, and the subsequent complications associated with ML, determine the overall severity of the clinical picture and require generally the referral of the affected patient to a specialized center that can ensure a multidisciplinary care3,5. Recently, the International Society for the Study of Vascular Anomalies (ISSVA), has revised and updated the classification of such malformations, emphasizing the distinction between isolated forms and ML in the context of more complex syndromes with multisystem involvement2. Until a few years ago, the only treatment strategies available for ML were scleroembolization, cryotherapy, transcutaneous laser photocoagulation, and surgical resection of the malformation. The recent identification of genetic alterations in the phosphatidylinositol-3-kinase (PI3K)\u002Fprotein kinase B (AKT)\u002Ftarget mammalian pathway of rapamycin (mTOR), which underlies many isolated and syndromic ML pictures6-9, has opened up important prospects for personalized treatment with repurposed drugs6,7,10-20. Over the years, the rarity and complexity of ML management have resulted in a fragmented nature of available information and poor nationwide sharing of diagnostic-clinical-assistance-therapeutic protocols (PDTAs) with the consequent need for many families to undertake multispecialty consultations in various provinces or regions before identifying a suitable Referral Center. In addition, recent acquisitions in genetics have forced specialists, a further reevaluation of those complex clinical pictures of ML, whether isolated or syndromic, that could be candidates for personalized drug treatments.\n\nThe institution of a national Registry of pathology promoted by the Association of Patients with Lymphatic Malformations, which supports clinicians and families in filling unmet information and clinical care gaps, is a priority project in order to improve the quality of life of patients and the level of care offered to them. In addition, the establishment of a collection of biological specimens, processed according to high quality standards, within a Research Biobank provides the opportunity for patients and their families to maximize the visibility of the specimens, promoting their use in national and international research projects dedicated to ML, in compliance with ELSI (Ethical, Social, and Legal Issues) criteria.\n\nThe study primary Objective is To create a computerized registry for ML that collects both retrospective and prospective data in order to estimate the incidence and prevalence of ML, in different phenotypes.\n\nAs secondary objectives. (i) Establish a collection of biological specimens (Fresh and fixed biopsy tissue; DNA extracted from whole blood, saliva and where possible from biopsy tissue) within the FPG Research Biobank, intended for future research purposes and available to the entire scientific community; ii) Genetically profile patients who have never undergone molecular diagnostics or who have been tested with restricted panels of genes (PIK3CA, AKT, MTOR, PTEN, KRAS and BRAF) (activity performed on patients per clinical practice); (iii) Define the natural history of ML in different phenotypes and genotypes from prenatal to adult age; (iv) Evaluate the clinical outcomes of different treatments (e.g., experimental drug therapy, maxillofacial surgery, vascular surgery, laser therapy, sclerotherapy, compression therapy, etc.) and different modes of care (type and frequency of visits performed) in the short and long term; (v) Assess the impact of ML on the lives of patients and caregivers; (vi) Support the drafting\u002Fupdating of national recommendations and standards of care; vii) to promote and facilitate the implementation of research projects dedicated to ML, fostering the advancement of scientific knowledge on this specific disease area;",[97,98,99,26],"Lymphatic Malformation","Lymphatic Abnormality","Lymphangioma","2025-03-18",{"date":102,"type":42},"2025-03-25",{"date":104,"type":42},"2024-06-27",{"date":106,"type":21},"2044-06-27",{"name":108,"class":80},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS"]