[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Wladimir MAUHIN, Dr\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":112},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,44,74],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":28,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":43},"100614266","study-of-the-quality-of-life-of-patients-with-fabry-disease-aged-65-and-over-with-and-without-specific-treatment-100614266",false,"NCT07277361","Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment","FABRY65","Inclusion Criteria:\n\n* Men and women aged 65 and over with a diagnosis of Fabry disease with, for men, a proven alpha-galactosidase A deficiency or an identified pathogenic GLA genetic variant, and for women, an identified pathogenic GLA variant.\n* Minimum work-up available: ECG, 24h holterECG, cardiac ultrasound, creatinemia, proteinuria and\u002For microalbuminuria.\n* Have received written and oral information about the protocol and have not expressed any opposition to participating in the study.\n* Affiliated to a social security scheme or entitled to benefits (excluding AME).\n\nExclusion Criteria:\n\n* Inability to understand the information provided,\n* Under guardianship, curatorship or safeguard of justice,\n* Under restraint or deprived of liberty by judicial or administrative decision.","ALL","65 Years",{"count":19,"type":20},100,"ESTIMATED","OBSERVATIONAL","Fabry disease is a rare genetic disorder affecting 1 in 10,000 individuals, leading to complications such as chronic pain, heart and kidney failure, and strokes, ultimately impacting life expectancy. People with this disease are increasingly being diagnosed later in life, around the age of 65, as the condition progresses slowly with irreversible organ damage. The effectiveness of treatments for Fabry disease remains controversial, but early initiation is recommended for long-term benefits. Despite the high cost and inconvenience of treatments, there is limited research on their efficacy in older people or on the quality of life for those aged 65 and over with Fabry disease. This study aims to assess the quality of life in this age group both with and without treatment over a period of 5 years to determine the benefits of treatment beyond the age of 65.",[24,25,26,27],"Fabry Disease","Aged 65 Years or Older","Alpha Galactosidase A Deficiency","Galactosidase A Gene Mutation",[29,30],"Fabry disease","Alpha galactosidase A deficiency","RECRUITING","2025-12-09",{"date":34,"type":35},"2025-12-11","ACTUAL",{"date":37,"type":35},"2024-10-08",{"date":39,"type":20},"2031-10-14",{"name":41,"class":42},"Wladimir MAUHIN, Dr","OTHER",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":50,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":16,"minAge":52,"maxAge":4,"enrollmentInfo":53,"targetDuration":55,"studyType":21,"phases":4,"briefSummary":56,"conditions":57,"keywords":60,"overallStatus":65,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":43},"100591806","national-multicentre-study-of-the-natural-history-of-acid-sphingo-myelinase-deficiency-in-adults-and-children-100591806","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.","2 Years",{"count":54,"type":20},200,"120 Months","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).",[58,59],"Acid Sphingomyelinase Deficiency (ASMD)","Niemann Pick Disease",[61,62,63,64],"ASMD","ASMD Pick A\u002FA-B\u002FB","registry","database","NOT_YET_RECRUITING","2025-05-14",{"date":68,"type":35},"2025-05-22",{"date":70,"type":20},"2025-05-15",{"date":72,"type":20},"2035-04-15",{"name":41,"class":42},{"id":75,"slug":76,"hasResults":11,"nctId":77,"briefTitle":78,"officialTitle":79,"acronym":80,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":16,"minAge":82,"maxAge":83,"enrollmentInfo":84,"targetDuration":4,"studyType":85,"phases":86,"briefSummary":88,"conditions":89,"keywords":95,"overallStatus":65,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":105,"startDateStruct":107,"completionDateStruct":109,"leadSponsor":111,"locationsCount":43},"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},"INTERVENTIONAL",[87],"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",[90,91,92,93,94],"Splenomegaly","Splenectomy","Thrombopenia","Interstitial Lung Disease (ILD)","Hypocholesterolemia",[96,97,98,99,100,101,102,103,104],"Acid sphingomyelinase deficiency","Ground glass lesions","Niemann Pick A\u002FB, B","lysoSM","smpd1","splenomegaly","interstitial lung disease","screening","acid sphingomyelinase",{"date":106,"type":35},"2025-05-18",{"date":108,"type":20},"2025-05",{"date":110,"type":20},"2029-03-01",{"name":41,"class":42},""]