[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mps-iva\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mps-iva":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,46,80],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":27,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100461082","non-invasive-functional-assessment-and-pathogenesis-of-morquio-a-100461082",false,"NCT05284006","Non-invasive Functional Assessment and Pathogenesis of Morquio A","Non-invasive Functional Assessment and Pathogenesis of Morquio A (NIFAMA)","NIFAMA","Inclusion Criteria:\n\n* Patients affected by MPS IVA. The diagnosis of MPS IVA is confirmed by deficient enzyme activity of \\\u003C 5% of normal activity level as measured in plasma or leukocytes.\n\nExclusion Criteria:\n\n* No","ALL",{"count":19,"type":20},60,"ESTIMATED","OBSERVATIONAL","Morquio A disease is a devastating systemic skeletal disease in which detailed progression and pathogenesis remain unknown. The proposed project aims to establish a non-invasive objective assessment that can be applicable to all ages of patients to better understand the progress of their disease and the most serious clinical problems (cervical instability and stenosis, tracheal obstruction, hyperlaxity of joints, hip dysplasia, and small lung capacity). The outcome of this project will lead to a more precise understanding of the skeletal\u002Fpulmonary compromise and defining clinical endpoints in this disease for future clinical trials of current or developing therapies.",[24,25,26],"Mucopolysaccharidosis IV Type A","Morquio A Syndrome","MPS IVA",[28,29,30,31,32],"skeletal dysplasia","GALNS","keratan sulfate","tracheal narrowing","short stature","RECRUITING","2026-05-11",{"date":36,"type":37},"2026-05-13","ACTUAL",{"date":39,"type":37},"2021-05-01",{"date":41,"type":20},"2027-04-30",{"name":43,"class":44},"Nemours Children's Clinic","OTHER",1,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":50,"acronym":51,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":53,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":58,"phases":59,"briefSummary":61,"conditions":62,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":71,"lastUpdatePostDateStruct":72,"startDateStruct":74,"completionDateStruct":76,"leadSponsor":78,"locationsCount":45},"100403342","phase-1-pearl-prenatal-enzyme-replacement-therapy-for-lysosomal-storage-disorders-100403342","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":57,"type":20},10,"INTERVENTIONAL",[60],"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.",[63,64,26,65,66,67,68,69,70],"MPS I","MPS II","MPS VI","Mps VII","Gaucher Disease, Type 2","Gaucher Disease, Type 3","Pompe Disease Infantile-Onset","Wolman Disease","2026-03-14",{"date":73,"type":37},"2026-03-17",{"date":75,"type":37},"2021-07-01",{"date":77,"type":20},"2032-07-31",{"name":79,"class":44},"University of California, San Francisco",{"id":81,"slug":82,"hasResults":11,"nctId":83,"briefTitle":84,"officialTitle":85,"acronym":4,"eligibilityCriteria":86,"healthyVolunteers":87,"sex":17,"minAge":88,"maxAge":89,"enrollmentInfo":90,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":92,"conditions":93,"keywords":96,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"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":91,"type":20},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.",[63,94,95,26],"MPS IV A","MPS - Mucopolysaccharidosis",[97,98,99,100,101],"mucopolysaccharidosis","carotid","cardiovascular","biomarker","observational","2026-01-23",{"date":104,"type":37},"2026-01-26",{"date":106,"type":37},"2025-09-01",{"date":108,"type":20},"2030-04-30",{"name":110,"class":44},"Children's Hospital of Orange County"]