[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"lysosomal-storage-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:lysosomal-storage-diseases":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,39],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":17,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":5},"100392721","a-pilot-study-for-systematic-neonatal-screening-for-lysosomal-storage-diseases-using-tandem-mass-spectrometry-100392721",false,"NCT04393701","A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry","LysoNeo","Inclusion Criteria:\n\n* Newborn in a Normandy maternity hospital\n* Newborn participating in the National Neonatal Screening Program\n* Holder(s) of parental authority having read and understood the information letter and signed the informed consent form\n\nExclusion Criteria:\n\nThere are no criteria for non-inclusion in this study. Participation in the study, such as participation in the National Neonatal Screening Program, is not mandatory.","ALL","1 Day","4 Days",{"count":20,"type":21},100000,"ESTIMATED","OBSERVATIONAL","The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected. Based on our previous pilot study (2011) assessing MCAD and PKU using tandem mass spectrometry-based method in Normandie region in which informed consents have been signed for all newborns (43,000) but we are expecting a great willingness to participate to this project. Thus, we are aiming to include 100,000 newborns, and the study will be continued until we reach at least this target.\n\nThe primary objective is to evaluate the epidemiology of MPS1 and Pompe disease using dried blood samples in the first cohort of neonates tested in France (Normandie region).",[25,26],"Neonatal Screening","Lysosomal Storage Diseases","RECRUITING","2026-05-21",{"date":30,"type":31},"2026-05-27","ACTUAL",{"date":33,"type":31},"2021-03-08",{"date":35,"type":21},"2026-12-08",{"name":37,"class":38},"University Hospital, Rouen","OTHER",{"id":40,"slug":41,"hasResults":11,"nctId":42,"briefTitle":43,"officialTitle":43,"acronym":4,"eligibilityCriteria":44,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":45,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":47,"conditions":48,"keywords":75,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":93,"completionDateStruct":95,"leadSponsor":97,"locationsCount":99},"100311346","longitudinal-study-of-neurodegenerative-disorders-100311346","NCT03333200","Longitudinal Study of Neurodegenerative Disorders","Inclusion Criteria:\n\n* Any patient with a genetic neurodegenerative disorder\n\nExclusion Criteria:\n\n* none",{"count":46,"type":21},1500,"The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.",[49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,26,73,74],"MLD","Krabbe Disease","ALD","MPS I","MPS II","MPS III","Vanishing White Matter Disease","GM3 Gangliosidosis","PKAN","Tay-Sachs Disease","NP Deficiency","Osteopetrosis","Alpha-Mannosidosis","Sandhoff Disease","Niemann-Pick Diseases","MPS IV","Gaucher Disease","GAN","GM1 Gangliosidoses","Morquio Disease","S-Adenosylhomocysteine Hydrolase Deficiency","Batten Disease","Pelizaeus-Merzbacher Disease","Leukodystrophy","Purine Nucleoside Phosphorylase Deficiency","Multiple Sulfatase Deficiency Disease",[76,77,78,79,80,81,82,83,84,85,86,87,88,89],"Pediatric","Rare","Neurodegenerative","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","2026-02-04",{"date":92,"type":31},"2026-02-09",{"date":94,"type":31},"2012-01-11",{"date":96,"type":21},"2035-01",{"name":98,"class":38},"University of Pittsburgh",1]