[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT02543996":3,"trial-entities:NCT02543996":94,"trial-summary:NCT02543996":99},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":21,"study_type":27,"primary_purpose":15,"phases":28,"enrollment_info":29,"interventions":32,"primary_outcomes":33,"secondary_outcomes":38,"sex":39,"minimum_age":40,"maximum_age":41,"healthy_volunteers":42,"eligibility_criteria":43,"std_ages":56,"locations":60,"central_contacts":77,"overall_officials":86,"references":89,"see_also_links":90},"NCT02543996","150190","Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)","Human Biospecimen Procurement and Analysis to Support Translational Research to Identify Genetic Etiology and Disease Mechanism(s) in Rare Genetic Vascular\u002FCardiovascular Diseases","RECRUITING","2050-05-22","2026-06-17","2026-08-28","2015-09-17","National Heart, Lung, and Blood Institute (NHLBI)","NIH",null,"Background:\n\nStudies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.\n\nObjective:\n\nTo collect blood and tissue samples for studies to identify underlying causes of disease.\n\nEligibility:\n\nPeople of all ages\n\nDesign:\n\nParticipants will have blood and\u002For tissue samples collected.\n\nSamples can be collected at the NIH Clinical Center. Participants doctors can collect the samples and send them to NIH. NIH staff can collect samples off site.\n\nFor blood samples, blood is taken from an arm vein using a needle.\n\nTissue collection may involve:\n\nBuccal smear: Cells are collected by scraping the inside of the cheek with a cotton swab.\n\nSaliva collection: Participants spit into a cup.\n\nSkin biopsy: A special needle takes a very small skin sample.\n\nSurgical waste tissue: If participants have surgery, NIH may receive samples of tissue that\n\nwould routinely be removed.\n\nUmbilical cord or cord blood collection: If a participant has a baby, NIH may receive a\n\nsmall piece of the umbilical cord or blood from the cord once the baby is delivered.","The diversity of human research programs at the National Institutes of Health (NIH) provides a unique opportunity to study different patient populations with monogenetic and undiagnosed diseases with vascular implications. Patient populations with mutations in almost every major signaling pathway related to cardiovascular diseases are actively investigated at the NIH Clinical Center. The purpose of this protocol is to obtain and analyze human biospecimens from affected and unaffected cohorts (as reference biospecimens) to identify genetic etiology and\u002For underlying disease mechanism(s) in rare genetic vascular\u002Fcardiovascular conditions. The collections will consist of biospecimens obtained from participants consented under this protocol and will also provide for the continued storage and analysis of biospecimens previously obtained from NIH Institutional Review Board (IRB)-approved protocols, or from NIH protocols nearing completion. The biospecimens collected under this protocol will include blood (plasma, serum, peripheral blood mononuclear cells (PBMCs)), saliva, buccal mucosa, urine, and skin biopsies. Additional biospecimens collected under other protocols may also be transferred to this protocol, including, tissue and fluid aspirates (cerebrospinal fluid, ascites, etc.), bone marrow, urine, saliva, skin biopsies, surgical tissue waste, malignant and non-malignant tissue samples, and\u002For other direct derivatives from human tissues (i.e. DNA, RNA, and induced pluripotent stems cells). Post-delivery umbilical cord core blood and cord tissue waste will be collected at the time of delivery under this protocol and\u002For shared if obtained under other protocols. Biospecimens may also be obtained as shared samples of clinically indicated procedures done inside or outside NIH, provided the subject consents to this protocol.\n\nThe primary objective of this protocol is to create a robust resource to support basic and translational research by providing a mechanism for collecting, tracking, storing, dispensing, analyzing, and disposing of laboratory research samples from affected and unaffected cohorts. This research will advance high-quality research in the areas of genetics and personalized medicine.\n\nAs this is not a treatment protocol, there is no primary endpoint. Research studies will include, but not be limited to, genomic studies, primary cell isolation and cell culture studies for molecular and biochemical analysis, immunohistological analysis, generation of patient-specific in vitro disease models (i.e. IPSCs), etc. As science is a continuously evolving field, technological advances in research methods will be incorporated into research studies accordingly.",[19,20],"Undiagnosed Diseases","Cardiovascular Disease",[22,23,24,25,26],"Sample Collection","Laboratory Research Specimens","Biospecimen Procurement","Rare Diseases","Natural History","OBSERVATIONAL",[],{"count":30,"type":31},10000,"ESTIMATED",[],[34],{"measure":35,"description":36,"timeFrame":37},"To procure human biospecimens from affected and unaffected cohorts for on-going and future basic and translational research studies to identify underlying disease mechanism(s)","The primary objective is to procure human biospecimens from affected and unaffected cohorts for on-going and future basic translational research studies to identify underlying disease mechanism(s) and potential therapeutic approaches","ongoing",[],"ALL","1 Month","100 Years",true,{"inclusion":44,"exclusion":51,"raw_text":55},[45,46,47,48,49,50],"Age: older than 1 month of age","Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study.","Unaffected related pregnant women (including spouses\u002Fpartners) for cord blood and tissue collection (surgical waste) only at the time of delivery.","Cognitively impaired individuals that are affected","Cognitively impaired individuals that are related to an affected subject.","Subjects willing to provide informed consent.",[52,53,54],"Healthy volunteers unable to give informed consent","Cognitively impaired individuals who are not affected","Cognitively impaired individuals who are not related to affected subjects.","* INCLUSION CRITERIA (SUBJECTS MUST MEET ONE OF THE FOLLOWING):\n* Age: older than 1 month of age\n* Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study.\n* Unaffected related pregnant women (including spouses\u002Fpartners) for cord blood and tissue collection (surgical waste) only at the time of delivery.\n* Cognitively impaired individuals that are affected\n* Cognitively impaired individuals that are related to an affected subject.\n* Subjects willing to provide informed consent.\n\nEXCLUSION CRITERIA:\n\n* Healthy volunteers unable to give informed consent\n* Cognitively impaired individuals who are not affected\n* Cognitively impaired individuals who are not related to affected subjects.",[57,58,59],"CHILD","ADULT","OLDER_ADULT",[61],{"facility":62,"status":8,"city":63,"state":64,"zip":65,"country":66,"contacts":67,"geoPoint":74},"National Institutes of Health Clinical Center","Bethesda","Maryland","20892","United States",[68],{"name":69,"role":70,"phone":71,"phoneExt":72,"email":73},"For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)","CONTACT","800-411-1222","TTY dial 711","ccopr@nih.gov",{"lat":75,"lon":76},38.98067,-77.10026,[78,82],{"name":79,"role":70,"phone":80,"email":81},"William R Whalen, C.R.N.P.","(301) 402-9841","william.whalen@nih.gov",{"name":83,"role":70,"phone":84,"email":85},"Manfred Boehm, M.D.","(301) 435-7211","boehmm@nhlbi.nih.gov",[87],{"name":83,"affiliation":13,"role":88},"PRINCIPAL_INVESTIGATOR",[],[91],{"label":92,"url":93},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?A_2015-H-0190.html",{"nct_id":4,"conditions":95,"biomarkers":98},[96,97,19],"Cardiovascular Disorder","Rare Disorder",[],{"nct_id":4,"found":42,"summary":100,"prompt_version":110},{"design":101,"status":102,"heading":103,"summary":104,"follow_up":105,"word_count":106,"commitments":107,"compensation":108,"drugs_mentioned":109},"This is an observational study aiming to enroll 10,000 participants. It involves collecting biological samples rather than testing a specific intervention.","completed","Biorepository for Undiagnosed and Cardiovascular Diseases","This study is collecting blood and tissue samples to help researchers better understand diseases like undiagnosed conditions and cardiovascular disease. They are looking for people of all ages, from 1 month to 100 years old, who have these conditions, as well as healthy individuals to serve as a comparison. The goal is to identify the underlying causes of these diseases by studying genetic information and other factors in the collected samples. This is an ongoing effort to build a resource for future research.","Not specified.",83,"You would provide blood and\u002For tissue samples, which can be collected at the NIH Clinical Center, by your doctor, or by NIH staff off-site. Sample collection may involve a blood draw, cheek swab (buccal smear), or spitting into a cup (saliva collection).","Not stated in the trial record.",[],"v2"]