[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100591806":3},{"organization":4,"outcomesModule":7,"designInfo":18,"detailedDescription":21,"studyPopulation":22,"armGroups":23,"interventions":17,"overallOfficials":27,"centralContacts":17,"locations":31,"responsibleParty":56,"collaborators":60,"id":121,"slug":17,"hasResults":122,"nctId":123,"briefTitle":124,"officialTitle":125,"acronym":126,"eligibilityCriteria":127,"healthyVolunteers":122,"sex":128,"minAge":129,"maxAge":17,"enrollmentInfo":130,"targetDuration":133,"studyType":134,"phases":17,"briefSummary":135,"conditions":136,"keywords":139,"overallStatus":144,"whyStopped":17,"lastUpdateSubmitDate":145,"lastUpdatePostDateStruct":146,"startDateStruct":149,"completionDateStruct":151,"leadSponsor":153,"locationsCount":154},{"fullName":5,"class":6},"Groupe Hospitalier Diaconesses Croix Saint-Simon","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":17},[9],{"measure":10,"description":11,"timeFrame":12},"To describe the natural history of ASMD (symptoms, complications)","To describe the natural history of ASMD (symptoms, complications) in adult and paediatric patients with and without therapeutic treatment and to assess their quality of life.","120 months",[14],{"measure":15,"description":16,"timeFrame":12},"Identify of prognostic factors, available treatments and phenotypic forms of the disease","* Identify prognostic factors for the disease: genetic, biochemical, symptomatic, radiological and social.\n* Evaluate the therapeutic treatments available.\n* List the different phenotypic forms on a national scale.\n* To highlight the social problems associated with the disease.",null,{"allocation":17,"interventionModel":17,"interventionModelDescription":17,"primaryPurpose":17,"observationalModel":19,"timePerspective":20,"maskingInfo":17},"COHORT","PROSPECTIVE","Niemann Pick A\u002F AB\u002F B disease also known as acid sphingomyelinase deficiency (ASMD) is a very rare genetic disease. The natural history remains poorly understood. This disease leads to morbidity and mortality. A specific effective treatment has been available since 2023.\n\nThe Internal Medicine Department of the Groupe Hospitalier Diaconesses Croix Saint-Simon (GHDCSS), reference center for lysosomal diseases, develops this clinical study in order to better understand the natural history of Niemann Pick A\u002F AB\u002F B disease, and better manage the symptoms, the complications and also the impact of this new treatment, particularly on daily life (quality of life). This French multicenter cohort research is coordinated by Dr Wladimir MAUHIN, (Internal medicine department, GHDCSS, Paris).","The target population will be patients aged 2 years or older with a definite diagnosis of ASMD, as determined by a confirmed low acid sphingomyelinase assay, and who have not given their opposition (patient and\u002For parent) to participate in this research.",[24],{"label":25,"type":17,"description":26,"interventionNames":17},"Experimental Cohort","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.",[28],{"name":29,"affiliation":5,"role":30},"Wladimir Mauhin, MD PhD","STUDY_DIRECTOR",[32],{"facility":5,"status":17,"city":33,"state":34,"zip":35,"country":34,"countryCode":36,"cosmosGeoPoint":37,"geoPoint":42,"contacts":43},"Paris","France","75020","FR",{"type":38,"coordinates":39},"Point",[40,41],2.3488,48.85341,{"lat":41,"lon":40},[44,49,53],{"name":45,"role":46,"phone":47,"phoneExt":17,"email":48},"Djazia BOUZELMAT, Clinical Research Assistant","CONTACT","+33 01 44 64 30 98","dbouzelmat@hopital-dcss.org",{"name":50,"role":46,"phone":51,"phoneExt":17,"email":52},"Rahma MKHININI, Clinical Reasearch Assistant","+33 01 44 64 30 95","rmkhinini@hopital-dcss.org",{"name":54,"role":55,"phone":17,"phoneExt":17,"email":17},"Wladimir MAUHIN, Doctor","PRINCIPAL_INVESTIGATOR",{"type":57,"investigatorFullName":58,"investigatorTitle":59,"investigatorAffiliation":5,"oldNameTitle":17,"oldOrganization":17},"SPONSOR_INVESTIGATOR","Wladimir MAUHIN, Dr","Principal Investigator",[61,63,65,67,69,71,73,76,78,80,82,84,86,89,91,93,95,97,99,101,103,105,107,109,111,113,115,117,119],{"name":62,"class":6},"Beaujon Hospital",{"name":64,"class":6},"University Hospital, Montpellier",{"name":66,"class":6},"Centre Hospitalier Saint Joseph Saint Luc de Lyon",{"name":68,"class":6},"Bichat Hospital",{"name":70,"class":6},"Versailles Hospital",{"name":72,"class":6},"University Hospital, Bordeaux",{"name":74,"class":75},"Hôpital de la Timone (MARSEILLE)","UNKNOWN",{"name":77,"class":6},"Hôpital Claude-Huriez",{"name":79,"class":6},"Hospices Civils de Lyon",{"name":81,"class":6},"Hôpital Armand Trousseau",{"name":83,"class":6},"Centre Hospitalier de Cornouaille",{"name":85,"class":6},"Nantes University Hospital",{"name":87,"class":88},"University Hospital, Angers","OTHER_GOV",{"name":90,"class":75},"Hospital BLOIS",{"name":92,"class":6},"Centre Hospitalier Universitaire de Nice",{"name":94,"class":6},"Centre Hospitalier Eure-Seine",{"name":96,"class":75},"University Hospital, Orléans",{"name":98,"class":6},"University Hospital, Toulouse",{"name":100,"class":75},"APHM - Nord",{"name":102,"class":6},"Henri Mondor University Hospital",{"name":104,"class":6},"Hôpital Européen Marseille",{"name":106,"class":75},"CH Henri Mondor (Aurillac)",{"name":108,"class":6},"University Hospital, Clermont-Ferrand",{"name":110,"class":6},"Centre Hospitalier Universitaire de Saint Etienne",{"name":112,"class":75},"Hôpital Pellegrin, CHU Bordeau",{"name":114,"class":6},"Reims University hospital",{"name":116,"class":6},"Hospital Avicenne",{"name":118,"class":6},"University Hospital, Strasbourg",{"name":120,"class":6},"Hôpital Necker-Enfants Malades","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":131,"type":132},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).",[137,138],"Acid Sphingomyelinase Deficiency (ASMD)","Niemann Pick Disease",[140,141,142,143],"ASMD","ASMD Pick A\u002FA-B\u002FB","registry","database","NOT_YET_RECRUITING","2025-05-14",{"date":147,"type":148},"2025-05-22","ACTUAL",{"date":150,"type":132},"2025-05-15",{"date":152,"type":132},"2035-04-15",{"name":58,"class":6},1]