[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100591806":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":12,"centralContacts":10,"locations":16,"responsibleParty":41,"collaborators":45,"id":106,"slug":107,"hasResults":108,"nctId":109,"briefTitle":110,"officialTitle":111,"acronym":112,"eligibilityCriteria":113,"healthyVolunteers":108,"sex":114,"minAge":115,"maxAge":10,"enrollmentInfo":116,"targetDuration":119,"studyType":120,"phases":10,"briefSummary":121,"conditions":122,"keywords":125,"overallStatus":130,"whyStopped":10,"lastUpdateSubmitDate":131,"lastUpdatePostDateStruct":132,"startDateStruct":135,"completionDateStruct":137,"leadSponsor":139,"locationsCount":140},{"fullName":5,"class":6},"Groupe Hospitalier Diaconesses Croix Saint-Simon","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":10},"Experimental Cohort",null,"A cohort of 200 pediatric and adult participants, diagnosed of ASMD, as established by a confirmed low acid sphingomyelinase assay, and who have not given their opposition (patient and\u002For parent) to participate in this research.",[13],{"name":14,"affiliation":5,"role":15},"Wladimir Mauhin, MD PhD","STUDY_DIRECTOR",[17],{"facility":5,"status":10,"city":18,"state":19,"zip":20,"country":19,"countryCode":21,"cosmosGeoPoint":22,"geoPoint":27,"contacts":28},"Paris","France","75020","FR",{"type":23,"coordinates":24},"Point",[25,26],2.3488,48.85341,{"lat":26,"lon":25},[29,34,38],{"name":30,"role":31,"phone":32,"phoneExt":10,"email":33},"Djazia BOUZELMAT, Clinical Research Assistant","CONTACT","+33 01 44 64 30 98","dbouzelmat@hopital-dcss.org",{"name":35,"role":31,"phone":36,"phoneExt":10,"email":37},"Rahma MKHININI, Clinical Reasearch Assistant","+33 01 44 64 30 95","rmkhinini@hopital-dcss.org",{"name":39,"role":40,"phone":10,"phoneExt":10,"email":10},"Wladimir MAUHIN, Doctor","PRINCIPAL_INVESTIGATOR",{"type":42,"investigatorFullName":43,"investigatorTitle":44,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"SPONSOR_INVESTIGATOR","Wladimir MAUHIN, Dr","Principal Investigator",[46,48,50,52,54,56,58,61,63,65,67,69,71,74,76,78,80,82,84,86,88,90,92,94,96,98,100,102,104],{"name":47,"class":6},"Beaujon Hospital",{"name":49,"class":6},"University Hospital, Montpellier",{"name":51,"class":6},"Centre Hospitalier Saint Joseph Saint Luc de Lyon",{"name":53,"class":6},"Bichat Hospital",{"name":55,"class":6},"Versailles Hospital",{"name":57,"class":6},"University Hospital, Bordeaux",{"name":59,"class":60},"Hôpital de la Timone (MARSEILLE)","UNKNOWN",{"name":62,"class":6},"Hôpital Claude-Huriez",{"name":64,"class":6},"Hospices Civils de Lyon",{"name":66,"class":6},"Hôpital Armand Trousseau",{"name":68,"class":6},"Centre Hospitalier de Cornouaille",{"name":70,"class":6},"Nantes University Hospital",{"name":72,"class":73},"University Hospital, Angers","OTHER_GOV",{"name":75,"class":60},"Hospital BLOIS",{"name":77,"class":6},"Centre Hospitalier Universitaire de Nice",{"name":79,"class":6},"Centre Hospitalier Eure-Seine",{"name":81,"class":60},"University Hospital, Orléans",{"name":83,"class":6},"University Hospital, Toulouse",{"name":85,"class":60},"APHM - Nord",{"name":87,"class":6},"Henri Mondor University Hospital",{"name":89,"class":6},"Hôpital Européen Marseille",{"name":91,"class":60},"CH Henri Mondor (Aurillac)",{"name":93,"class":6},"University Hospital, Clermont-Ferrand",{"name":95,"class":6},"Centre Hospitalier Universitaire de Saint Etienne",{"name":97,"class":60},"Hôpital Pellegrin, CHU Bordeau",{"name":99,"class":6},"Reims University hospital",{"name":101,"class":6},"Hospital Avicenne",{"name":103,"class":6},"University Hospital, Strasbourg",{"name":105,"class":6},"Hôpital Necker-Enfants Malades","100591806","national-multicentre-study-of-the-natural-history-of-acid-sphingo-myelinase-deficiency-in-adults-and-children-100591806",false,"NCT06985212","National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children","Study of the Natural History of Acid Sphingomyelinase Deficiency (ASMD): National, Multicenter Cohort of Adult and Pediatric Patients _FASMD (French Prospective Cohort ASMD)","FASMD","Inclusion Criteria:\n\n1. Any patient aged at least 2 years, with a confirmed diagnosis of ASMD determined by a lowered acid sphingomyelinase assay.\n2. Have received written and oral information about the protocol and have not expressed opposition to participating in the study.\n3. Affiliated to the social security system or entitled to benefits (excluding AME).\n\nExclusion Criteria:\n\n1. Inability to understand the information provided,\n2. Under guardianship, trusteeship or judicial protection,\n3. Under detention or deprived of liberty by judicial or administrative decision.","ALL","2 Years",{"count":117,"type":118},200,"ESTIMATED","120 Months","OBSERVATIONAL","The goal of this study is to describe the natural history of ASMD in adult and paediatric patients with or without specific treatment in order to assess the impact of the disease on their daily lives and quality of life.\n\nThe population concerned corresponds to patients aged at least 2 years, with a definite diagnosis of ASMD as determined by a confirmed low acid sphingomyelinase assay and who have not expressed their opposition to participating in this research (patients and\u002For parental authority).",[123,124],"Acid Sphingomyelinase Deficiency (ASMD)","Niemann Pick Disease",[126,127,128,129],"ASMD","ASMD Pick A\u002FA-B\u002FB","registry","database","NOT_YET_RECRUITING","2025-05-14",{"date":133,"type":134},"2025-05-22","ACTUAL",{"date":136,"type":118},"2025-05-15",{"date":138,"type":118},"2035-04-15",{"name":43,"class":6},1]