[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"hypocholesterolemia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:hypocholesterolemia":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,43],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":27,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100380525","physiological-effects-of-angptl3-variants-in-humans-100380525",false,"NCT04234724","Physiological Effects of ANGPTL3 Variants in Humans","Inclusion Criteria:\n\n* Subjects aged 18 or older meeting at least one of the following criteria\n\n  1. Carrying genetic variants in the gene encoding for ANGPTL3,\n  2. Unaffected controls matched for age, race, gender,\n  3. Willing to follow study procedures\n  4. Able to provide inform consent\n\n     Exclusion Criteria:\n* Any medical or psychological conditions that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data\n* Taking any medication that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data\n* Women that are pregnant or nursing\n* History of liver disease or abnormal liver function tests (\\>2x upper limit of normal)\n* History of kidney disease or chronic renal insufficiency (eGFR \\\u003C60 mL\u002Fmin\u002F1.73 m2)\n* Uncontrolled hypertension (\\>160\u002F100 mmHg)\n* Uncontrolled diabetes\n* Anemia (hemoglobin \\\u003C11.0 mg\u002FdL) History of a non-skin malignancy within the previous 5 years Major surgery within the past 3 months\n* History of any organ transplant\n* History of alcohol or drug abuse\n* Participation in clinical trials assessing the efficacy and safety of drugs affecting lipid metabolism within the past 6 weeks (or longer depending on the known half-life of the drug) that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data\n* Inability to comply to study procedures",true,"ALL","18 Years",{"count":19,"type":20},50,"ESTIMATED","INTERVENTIONAL",[23],"NA","To evaluate the role of ANGPTL3, on lipid metabolism. To explore the role of this protein on glucose metabolism.",[26],"Hypocholesterolemia",[28,29],"Angiopoietin-like protein 3 deficiency","Lipid Metabolism","RECRUITING","2025-09-02",{"date":33,"type":34},"2025-09-10","ACTUAL",{"date":36,"type":34},"2020-12-01",{"date":38,"type":20},"2026-06-30",{"name":40,"class":41},"University of Pennsylvania","OTHER",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":49,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":52,"enrollmentInfo":53,"targetDuration":4,"studyType":21,"phases":55,"briefSummary":56,"conditions":57,"keywords":62,"overallStatus":72,"whyStopped":4,"lastUpdateSubmitDate":73,"lastUpdatePostDateStruct":74,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":42},"100582913","study-of-the-prevalence-of-acid-sphingomyelinase-deficiencyniemann-pick-ab-and-b-disease-in-patients-with-diffuse-interstitial-lung-disease-100582913","NCT06869499","Study of the Prevalence of Acid Sphingomyelinase Deficiency\u002FNiemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease","Niemann-PID: Study of the Prevalence of Acid Sphingomyelinase Deficiency\u002FNiemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease","Niemann-PID","Inclusion Criteria:\n\n1. Interstitial lung disease with ground-glass lesions on a chest CT scan certified by a pneumologist\u002Fradiologist or internist.\n2. At least one of the following criteria :\n\n   * Splenomegaly (palpable spleen or craniocaudal length ≥ 13 cm)\n   * Splenectomy\n   * Thrombocytopenia (platelets \\\u003C 150 G\u002FL)\n   * Low HDL-cholesterol (\\\u003C0.4 g\u002Fl or 1.03 mmol\u002Fl)\n   * Notion of parental consanguinity\n3. Have given their written informed consent, in accordance with regulations.\n4. Affiliated to the social security system or entitled beneficiary (excluding AME).\n\nExclusion Criteria:\n\n1. Inability to understand the information provided.\n2. Under guardianship, curatorship or legal protection.\n3. Under restraint or deprived of liberty by judicial or administrative decision.","15 Years","60 Years",{"count":54,"type":20},200,[23],"The goal of this clinical trial is to optimise and facilitate screening for Acid SphingoMyelinase Deficiency (ASMD) disease, by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200 participants with diffuse interstitial lund disease (ILD) at risk of developing ASMD disease.\n\nILD is common in the general population, so in order to limit the number of differential diagnoses, the population to be studied will be restricted to participants aged between 15 years and 3 months and 60 years, with ILD plus ground-glass opacities on chest CT scan certified by a pulmonologist\u002Fradiologist or internist, AND splenomegaly or splenectomy, and\u002For thrombocytopenia, and\u002For low HDL cholesterol, and\u002For parental consanguinity which increase the sensitivity of ASMD screening.\n\nIn this clinical trail, two procedures are added, participants will be asked for :\n\n* a blood sample to measure the acid sphingomyelinase enzyme activity and LysoSM, if required.\n* a follow-up visit at 6 months",[58,59,60,61,26],"Splenomegaly","Splenectomy","Thrombopenia","Interstitial Lung Disease (ILD)",[63,64,65,66,67,68,69,70,71],"Acid sphingomyelinase deficiency","Ground glass lesions","Niemann Pick A\u002FB, B","lysoSM","smpd1","splenomegaly","interstitial lung disease","screening","acid sphingomyelinase","NOT_YET_RECRUITING","2025-05-14",{"date":75,"type":34},"2025-05-18",{"date":77,"type":20},"2025-05",{"date":79,"type":20},"2029-03-01",{"name":81,"class":41},"Wladimir MAUHIN, Dr"]