[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100582913":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":21,"centralContacts":25,"locations":31,"responsibleParty":43,"collaborators":47,"id":66,"slug":67,"hasResults":68,"nctId":69,"briefTitle":70,"officialTitle":71,"acronym":72,"eligibilityCriteria":73,"healthyVolunteers":68,"sex":74,"minAge":75,"maxAge":76,"enrollmentInfo":77,"targetDuration":20,"studyType":80,"phases":81,"briefSummary":83,"conditions":84,"keywords":90,"overallStatus":100,"whyStopped":20,"lastUpdateSubmitDate":101,"lastUpdatePostDateStruct":102,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"locationsCount":110},{"fullName":5,"class":6},"Groupe Hospitalier Diaconesses Croix Saint-Simon","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Experimental Cohort","EXPERIMENTAL","The participants will be asked for a :\n\n1. Venous blood collection (4ml EDTA tube) for the determination of :\n\n   * acid sphingomyelinase enzyme activity in all participants included in the study. The determination of acid sphigomyelinase enzyme activity will be performed using a multiplex blotting assay that allows simultaneous determination of acid sphigomyelinase activity (ASMD) by tandem MS\u002FMS mass spectrometry, but also Beta-glucocerebrosidase (Gaucher disease), alpha-galactosidase (Fabry disease), Maltase Acid (Pompe disease), Galactocerebrosidase (Krabbe disease), Alpha-L iduronidase (control enzyme) (MPSI)).\n   * if acid sphingomyelinase activity \\\u003C 1.82 μmol\u002Fh\u002Fl (decreased) is detected, the concentration of lysoSM should be determined on the same sample.\n2. Appropriate participant care management in the event of a positive ASMD screening.",[13],"Procedure: Blood sampling for dosage",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":20},"PROCEDURE","Blood sampling for dosage","4ml blood sample to measure acid sphingomyelinase enzyme activity and LysoSM, if required.",[9],null,[22],{"name":23,"affiliation":5,"role":24},"Wladimir MAUHIN, Doctor","PRINCIPAL_INVESTIGATOR",[26],{"name":27,"role":28,"phone":29,"phoneExt":20,"email":30},"Djazia BOUZELMAT Clinical Research Assistant","CONTACT","+ 33 01 44 64 30 98","dbouzelmat@hopital-dcss.org",[32],{"facility":5,"status":20,"city":33,"state":20,"zip":34,"country":35,"countryCode":36,"cosmosGeoPoint":37,"geoPoint":42,"contacts":20},"Paris","75020","France","FR",{"type":38,"coordinates":39},"Point",[40,41],2.3488,48.85341,{"lat":41,"lon":40},{"type":44,"investigatorFullName":45,"investigatorTitle":46,"investigatorAffiliation":5,"oldNameTitle":20,"oldOrganization":20},"SPONSOR_INVESTIGATOR","Wladimir MAUHIN, Dr","Internist",[48,50,52,54,56,58,60,62,64],{"name":49,"class":6},"Bichat Hospital",{"name":51,"class":6},"Hospital Avicenne",{"name":53,"class":6},"Rennes University Hospital",{"name":55,"class":6},"Bicetre Hospital",{"name":57,"class":6},"University Hospital, Marseille",{"name":59,"class":6},"Tenon Hospital, Paris",{"name":61,"class":6},"Centre Hospitalier Universitaire Dijon",{"name":63,"class":6},"University Hospital, Lille",{"name":65,"class":6},"Hospices Civils de Lyon","100582913","study-of-the-prevalence-of-acid-sphingomyelinase-deficiencyniemann-pick-ab-and-b-disease-in-patients-with-diffuse-interstitial-lung-disease-100582913",false,"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.","ALL","15 Years","60 Years",{"count":78,"type":79},200,"ESTIMATED","INTERVENTIONAL",[82],"NA","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",[85,86,87,88,89],"Splenomegaly","Splenectomy","Thrombopenia","Interstitial Lung Disease (ILD)","Hypocholesterolemia",[91,92,93,94,95,96,97,98,99],"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":103,"type":104},"2025-05-18","ACTUAL",{"date":106,"type":79},"2025-05",{"date":108,"type":79},"2029-03-01",{"name":45,"class":6},1]