[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT05731141":3,"trial-entities:NCT05731141":130,"trial-summary:NCT05731141":140},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":20,"study_type":31,"primary_purpose":14,"phases":32,"enrollment_info":33,"interventions":36,"primary_outcomes":37,"secondary_outcomes":45,"sex":55,"minimum_age":56,"maximum_age":57,"healthy_volunteers":58,"eligibility_criteria":59,"std_ages":68,"locations":72,"central_contacts":103,"overall_officials":112,"references":115,"see_also_links":126},"NCT05731141","10001084","A Prospective Natural History Study of Lymphatic Anomalies","RECRUITING","2028-12-31","2026-08-04","2026-08-06","2023-03-20","Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",null,"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.","Study Description:\n\nA natural history study for lymphatic anomalies to systematically evaluate the disease phenotypes and long-term outcomes to provide improved prognostication to families, establish screening\u002Fmonitoring guidelines, determine best practices for genetic diagnosis, explore family opinions, and explore fertility for those on long term medication management. This study will allow us to identify novel end points for future clinical trials.\n\nObjectives:\n\nPrimary objectives:\n\n* To establish a longitudinal cohort of participants with lymphatic anomalies\n* To longitudinally determine the age at presentation and incidence of clinical features\n\nSecondary objectives:\n\n* To establish a longitudinal biospecimen repository\n* To determine the best practices for genetic diagnosis based on phenotype.\n* To determine the malignant potential of anomalies longitudinally\n\nEndpoints:\n\nPrimary endpoints:\n\n* The number of participants with lymphatic anomalies\n* For each clinical feature or symptoms, the range of ages at the development of that feature\u002Fsymptom and fraction of participants with that feature\n* Quantification and identification of novel features associated with disease.\n\nSecondary endpoints:\n\n* The number of specimens collected\n* Diagnostic yields by phenotype and genetic test methodology\n* Number of malignancies related to the primary lesion that have developed",[18,19],"Lymphatic Diseases","Lymphatic Abnormalities",[21,22,23,24,25,26,27,28,29,30],"Protein Losing Enteropathy","Lymphedema","Lymphangiectasia","Kaposiform Lymphangiomatosis","Gorham Stout Disease","Generalized Lymphatic Anomaly","Complex Lymphatic Anomaly","Chylous Effusion","Chylous Ascites","Central Conducting Lymphatic Anomaly","OBSERVATIONAL",[],{"count":34,"type":35},1200,"ESTIMATED",[],[38,42],{"measure":39,"description":40,"timeFrame":41},"To establish a longitudinal cohort of participants with lymphatic anomalies","We plan to enroll a group of participants willing to participate in the study over time.","12\u002F31\u002F2028",{"measure":43,"description":44,"timeFrame":41},"To longitudinally determine the age at presentation and incidence of clinical features","For each clinical feature or symptoms, the range of ages at the development of that feature\u002Fsymptom and fraction of participants with that feature",[46,49,52],{"measure":47,"description":48,"timeFrame":41},"To establish a longitudinal biospecimen repository","We plan to collect biospecimens including, but not limited to blood and stool from participants over time.",{"measure":50,"description":51,"timeFrame":41},"To determine the best practices for genetic diagnosis based on phenotype","We will analyze diagnostic yields by phenotype (how many participants are able to have a genetic diagnosis in proportion to the number of participants who receive genetic testing) and genetic test methodology (to determine which genetic test is most helpful in diagnosing lymphatic anomalies)",{"measure":53,"description":54,"timeFrame":41},"To determine the malignant potential of anomalies longitudinally","We will track the number of malignancies related to the primary lesion that have developed","ALL","1 Day","100 Years",true,{"inclusion":60,"exclusion":65,"raw_text":67},[61,62,63,64],"Current or history of lymphatic anomaly or symptoms suggestive of a lymphatic disorder Or","An ill-defined vascular anomaly that is suspected to have an abnormal lymphatic component Or","A pathogenic, likely pathogenic, or VUS in a genetic disorder with a known lymphatic component Or","Clinical diagnosis of a syndrome with a known lymphatic component",[66,66],"Any condition, in the opinion of the investigator, that would increase risk of participation or impair their ability to comply with protocol requirements.","* 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.",[69,70,71],"CHILD","ADULT","OLDER_ADULT",[73,89],{"facility":74,"status":7,"city":75,"state":76,"zip":77,"country":78,"contacts":79,"geoPoint":86},"National Institutes of Health Clinical Center","Bethesda","Maryland","20892","United States",[80],{"name":81,"role":82,"phone":83,"phoneExt":84,"email":85},"NIH Clinical Center Office of Patient Recruitment (OPR)","CONTACT","800-411-1222","TTY dial 711","ccopr@nih.gov",{"lat":87,"lon":88},38.98067,-77.10026,{"facility":90,"status":91,"city":92,"state":93,"zip":94,"country":78,"contacts":95,"geoPoint":100},"Children's Hospital of Philadelphia","NOT_YET_RECRUITING","Philadelphia","Pennsylvania","19104",[96],{"name":97,"role":82,"phone":98,"email":99},"Yoav Dori","267-648-1033","doriy@chop.edu",{"lat":101,"lon":102},39.95238,-75.16362,[104,108],{"name":105,"role":82,"phone":106,"email":107},"Andrea I Bowling, C.R.N.P.","(301) 451-3824","nichd_lymphaticanoma@mail.nih.gov",{"name":109,"role":82,"phone":110,"email":111},"Sarah E Sheppard, M.D.","(240) 578-5047","sarah.sheppard@nih.gov",[113],{"name":109,"affiliation":12,"role":114},"PRINCIPAL_INVESTIGATOR",[116,120,123],{"pmid":117,"type":118,"citation":119},"34166072","BACKGROUND","Makinen T, Boon LM, Vikkula M, Alitalo K. Lymphatic Malformations: Genetics, Mechanisms and Therapeutic Strategies. Circ Res. 2021 Jun 25;129(1):136-154. doi: 10.1161\u002FCIRCRESAHA.121.318142. Epub 2021 Jun 24.",{"pmid":121,"type":118,"citation":122},"34675250","Brouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quere I, Vikkula M. Primary lymphoedema. Nat Rev Dis Primers. 2021 Oct 21;7(1):77. doi: 10.1038\u002Fs41572-021-00309-7.",{"pmid":124,"type":118,"citation":125},"35606495","Liu M, Smith CL, Biko DM, Li D, Pinto E, O'Connor N, Skraban C, Zackai EH, Hakonarson H, Dori Y, Sheppard SE. Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. Eur J Hum Genet. 2022 Sep;30(9):1022-1028. doi: 10.1038\u002Fs41431-022-01123-9. Epub 2022 May 24.",[127],{"label":128,"url":129},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?A_001084-CH.html",{"nct_id":4,"conditions":131,"biomarkers":139},[132,133,27,134,26,135,136,23,137,22,138],"Chylous effusion","Chylous Peritoneal Effusion","Disorders of lymph node and lymphatics","Gorham's disease","Kaposiform lymphangiomatosis","LYMPHATIC MALFORMATION 12","Protein-losing enteropathy",[],{"nct_id":4,"found":58,"summary":141,"prompt_version":151},{"design":142,"status":143,"heading":144,"summary":145,"follow_up":146,"word_count":147,"commitments":148,"compensation":149,"drugs_mentioned":150},"This is an observational study, not testing any specific intervention. It plans to enroll 1200 participants.","completed","Natural History Study of Lymphatic Anomalies","This study is an observational study, meaning it doesn't test a new treatment but rather collects information to better understand lymphatic anomalies (problems with the body's fluid drainage system). Researchers want to learn more about why these conditions develop and how they progress over time. The goal is to improve future treatments and care for people with lymphatic anomalies. You may be able to join if you are between 1 day and 100 years old and have a current or suspected lymphatic anomaly. The study aims to follow participants over a long period, with primary goals of establishing a group of people with lymphatic anomalies and tracking when symptoms appear and how often they occur.","The primary endpoints for this study are measured at 12\u002F31\u002F2028, indicating a long-term follow-up period.",115,"Affected participants may be evaluated every 10 months to 2 years. You may remain in the study indefinitely.","Not stated in the trial record.",[],"v2"]