[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mps-i\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mps-i":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,49,110],{"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":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100403342","phase-1-pearl-prenatal-enzyme-replacement-therapy-for-lysosomal-storage-disorders-100403342",false,"NCT04532047","PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)","PEARL","Inclusion Criteria:\n\n* Live male or female fetuses at 18 0\u002F7 weeks to 34 6\u002F7 weeks gestation\n* Diagnosis of one of the 8 included LSDs in utero by genetic or enzymatic analyses performed on amniotic fluid, fetal blood, placental tissue, or other samples through chorionic villus sampling (CVS), amniocentesis, cordocentesis, cell free fetal DNA, or other procedures. In the event that parents are identified as genetic carriers for a LSD, diagnostic testing for the fetus would be performed to confirm the diagnosis\n* Pregnant women age 18 years to 50 years, carrying a live male or female fetus at 18 0\u002F7 weeks to 34 6\u002F7 weeks gestation\n* Identified through the above listed means to be carrying a fetus with an LSD.\n* Ability to give written informed consent and comply with the requirements of the study.\n\nExclusion Criteria:\n\n* Fetuses with a concurrent severe structural anomaly\n* Fetuses with an additional pathogenic genetic variant not related to the underlying LSD that contribute a significant risk of morbidity or mortality.\n\nHydrops fetalis will not be an exclusion criterion because ERT has the possibility of significant benefit in this situation.\n\n* Women with one or more significant comorbidities that would preclude fetal intervention including, but not limited to:\n\n  1. inability to complete the procedure secondary to maternal body habitus or placental location\n  2. significant cardiopulmonary disease\n  3. mirror syndrome\n  4. end organ failure\n  5. altered mental status\n  6. placental abruption\n  7. active preterm labor\n  8. preterm premature rupture of membranes.\n* Mother will require therapeutic dosing of anticoagulation within 24 hours prior to or following the intervention.","FEMALE","18 Years","50 Years",{"count":20,"type":21},10,"ESTIMATED","INTERVENTIONAL",[24],"PHASE1","For detailed information, please view our study website: https:\u002F\u002Fpearltrial.ucsf.edu\u002F\n\nThe investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.",[27,28,29,30,31,32,33,34,35],"MPS I","MPS II","MPS IVA","MPS VI","Mps VII","Gaucher Disease, Type 2","Gaucher Disease, Type 3","Pompe Disease Infantile-Onset","Wolman Disease","RECRUITING","2026-03-14",{"date":39,"type":40},"2026-03-17","ACTUAL",{"date":42,"type":40},"2021-07-01",{"date":44,"type":21},"2032-07-31",{"name":46,"class":47},"University of California, San Francisco","OTHER",1,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":55,"minAge":4,"maxAge":4,"enrollmentInfo":56,"targetDuration":4,"studyType":58,"phases":4,"briefSummary":59,"conditions":60,"keywords":86,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":101,"lastUpdatePostDateStruct":102,"startDateStruct":104,"completionDateStruct":106,"leadSponsor":108,"locationsCount":48},"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","ALL",{"count":57,"type":21},1500,"OBSERVATIONAL","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.",[61,62,63,27,28,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85],"MLD","Krabbe Disease","ALD","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","Lysosomal Storage Diseases","Purine Nucleoside Phosphorylase Deficiency","Multiple Sulfatase Deficiency Disease",[87,88,89,90,91,92,93,94,95,96,97,98,99,100],"Pediatric","Rare","Neurodegenerative","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","2026-02-04",{"date":103,"type":40},"2026-02-09",{"date":105,"type":40},"2012-01-11",{"date":107,"type":21},"2035-01",{"name":109,"class":47},"University of Pittsburgh",{"id":111,"slug":112,"hasResults":11,"nctId":113,"briefTitle":114,"officialTitle":115,"acronym":4,"eligibilityCriteria":116,"healthyVolunteers":117,"sex":55,"minAge":118,"maxAge":119,"enrollmentInfo":120,"targetDuration":4,"studyType":58,"phases":4,"briefSummary":122,"conditions":123,"keywords":126,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":132,"lastUpdatePostDateStruct":133,"startDateStruct":135,"completionDateStruct":137,"leadSponsor":139,"locationsCount":5},"100620739","cardiac-structure-and-function-in-mps-100620739","NCT07361536","Cardiac Structure and Function in MPS","Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA","Inclusion Criteria:\n\n1. Any Participant with a molecularly confirmed diagnosis of mucopolysaccharidosis is eligible to enroll in this study\n2. Any healthy participant without a diagnosis of mucopolysaccharidosis whose age and biological sex can be matched with an enrolled mucopolysaccharidosis participant\n3. Parental \u002F patient informed consent\n\nExclusion Criteria:\n\n1. Any reason that the investigators would deem a patient not eligible to participate in this study\n2. Inability to participate in the assessments required for this study",true,"0 Years","99 Years",{"count":121,"type":21},240,"The purpose of this study is to better understand how heart and blood vessel problems develop in people with Mucopolysaccharidosis (MPS). The investigators are looking at certain substances in the body called GAGs and proteoglycans to see how they affect the heart. The investigators also want to find reliable blood and urine markers that can help us track heart health and guide future treatments.\n\nThis study aims to answer two main questions:\n\n1. Do people with MPS show faster changes in their blood vessels over time (such as thickening or stiffening of the carotid artery) compared to people without MPS?\n2. Do people with MPS have higher levels of certain proteins in their blood (such as clusterin and inflammatory markers) that are linked to blood vessel changes?\n\nWhat participants will do?\n\nParticipants will complete the following tests once a year for 4 years:\n\n* Carotid ultrasound: an imaging test that looks at the blood vessels in the neck.\n* Echocardiogram: an ultrasound of the heart.\n* Blood draw\n* Urine collection\n\nThese tests help the investigators track changes in heart and blood vessel health over time.",[27,124,125,29],"MPS IV A","MPS - Mucopolysaccharidosis",[127,128,129,130,131],"mucopolysaccharidosis","carotid","cardiovascular","biomarker","observational","2026-01-23",{"date":134,"type":40},"2026-01-26",{"date":136,"type":40},"2025-09-01",{"date":138,"type":21},"2030-04-30",{"name":140,"class":47},"Children's Hospital of Orange County"]