[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"maple-syrup-urine-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:maple-syrup-urine-disease":30},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,44,72],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":4},"100567181","myrarediet-a-novel-diet-tracking-tool-100567181",false,"NCT06664840","MyRareDiet A Novel Diet Tracking Tool","MyRareDiet™: A Diet Tracking, Monitoring and Optimization mHealth Tool for Patients With Inborn Errors of Metabolism","MRD","Inclusion Criteria:\n\n* diagnosed with urea cycle disorder, propionic acidemia, maple syrup urine disease or methylmalonic acidemia\n* consuming a diet where ≥50% of energy is supplied by foods consumed orally\n* self-known (or prescribed) dietary energy goal and protein restriction\n* internet connected device to access MyRareDiet\n\nExclusion Criteria:\n\n* pregnant","ALL","1 Year","80 Years",{"count":21,"type":22},60,"ESTIMATED","INTERVENTIONAL",[25],"NA","The investigators propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the inborn errors of metabolism (IEM) population to assist with dietary management designed to increase adherence and compliance to treatment guidelines, while facilitating the collection of dietary data from individuals with IEM for research purposes.",[28,29,30,31],"Urea Cycle Disorder","Propionic Aciduria","Maple Syrup Urine Disease","Methylmalonic Acidemia","NOT_YET_RECRUITING","2024-10-28",{"date":35,"type":36},"2024-10-30","ACTUAL",{"date":38,"type":22},"2024-11-15",{"date":40,"type":22},"2025-12-31",{"name":42,"class":43},"Oregon Health and Science University","OTHER",{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":17,"minAge":51,"maxAge":52,"enrollmentInfo":53,"targetDuration":4,"studyType":23,"phases":55,"briefSummary":56,"conditions":57,"keywords":58,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":4},"100560810","liquid-valine-and-isoleucine-in-maple-syrup-urine-disease-100560810","NCT06581991","Liquid Valine and Isoleucine in Maple Syrup Urine Disease","Valine 50mg\u002Fml and Isoleucine 25mg\u002Fml Oral Solutions for Maple Syrup Urine Disease (MSUD) - Acceptability and Tolerance Study","Inclusion Criteria:\n\n* Male and female MSUD patients ≥1 year and \\\u003C16 years of age.\n* Patients diagnosed with MSUD.\n* Taking both valine and isoleucine supplements for MSUD and willing to take the new supplements for 56 days.\n* Absence of comorbidities.\n* Adherence with dietary management and valine and isoleucine supplements.\n* Able to understand and comply with the requirements of the investigation and sign the Informed Consent Form\u002FAssent form\n\nExclusion Criteria:\n\n* Age \\\u003C1 year old and \\>16 years old.\n* Patients with comorbidities.\n* Any moderate to severe acute illness which in the opinion of the Investigator would interfere with the study procedures or study outcome.\n* History of poor co-operation, non-adherence with dietary management, or poor adherence to investigation procedures.\n* Participation in any other studies involving investigational or marketed products concomitantly or within two weeks prior to entry into the study.","12 Months","16 Years",{"count":54,"type":22},5,[25],"This is a prospective, observational research study in 5 children with Maple Syrup Urine Disease (MSUD). Subjects who are currently taking a valine and isoleucine supplement for MSUD will be recruited for a 56 day trial, of a new ready-to-use valine supplement and a new ready-to-use isoleucine supplement, to evaluate the tolerability and acceptability of the study products compared with their usual products.",[30],[30,59,60,61],"MSUD","Valine","Isoleucine","2024-08-29",{"date":64,"type":36},"2024-09-03",{"date":66,"type":22},"2024-10",{"date":68,"type":22},"2026-09",{"name":70,"class":71},"Meta Healthcare Ltd","INDUSTRY",{"id":73,"slug":74,"hasResults":11,"nctId":75,"briefTitle":76,"officialTitle":76,"acronym":4,"eligibilityCriteria":77,"healthyVolunteers":11,"sex":17,"minAge":78,"maxAge":79,"enrollmentInfo":80,"targetDuration":4,"studyType":82,"phases":4,"briefSummary":83,"conditions":84,"keywords":89,"overallStatus":104,"whyStopped":4,"lastUpdateSubmitDate":105,"lastUpdatePostDateStruct":106,"startDateStruct":108,"completionDateStruct":110,"leadSponsor":112,"locationsCount":114},"100408734","systemic-biomarkers-of-brain-injury-from-hyperammonemia-100408734","NCT04602325","Systemic Biomarkers of Brain Injury From Hyperammonemia","Inclusion Criteria:\n\n1. Inherited Hyperammonemias:\n\n   1. A clinical diagnosis of 1 of 7 diagnosed urea cycle disorders:\n\n      * N-acetylglutamate Synthetase Deficiency (NAGS)\n      * Carbamyl Phosphate Synthetase Deficiency (CPSD)\n      * Ornithine Transcarbamylase Deficiency (OTCD)\n      * Argininosuccinate Synthetase Deficiency (ASD)\n      * Argininosuccinate Lyase Deficiency (ALD)\n      * Arginase Deficiency (AD)\n      * Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH)\n   2. A clinical diagnosis of 1 of 2 organic acidemias:\n\n      * Propionic Acidemia (PA)\n      * Methylmalonic Acidemia (MMA)\n2. Acute metabolic disorder without hyperammonemia, with neurological sequelae\n\n   1. Maple Syrup Urine Disease (MSUD)\n   2. Glutaric Acidemia (GA1)\n3. Acute metabolic disorder without hyperammonemia and without neurological sequelae\n\n   * Fatty Acid Oxidation Disorders:\n   * Medium Chain-Acyl CoA Dehydrogenase Deficiency\n   * Very Long Chain-Acyl CoA Dehydrogenase Deficiency\n   * Trifunctional Protein Deficiency\n   * Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency\n   * Carnitine Palmitoyltransferase I or II Deficiency\n   * Carnitine\u002FAcylcarnitine Translocase Deficiency\n   * Primary Carnitine Transport Deficiency\n4. Hypoxic-Ischemic Encephalopathy\n\nExclusion Criteria:\n\n* Prior Solid-Organ Transplant\n* Use of any other investigational drug, biologic, or therapy or any clinical or laboratory abnormality or medical condition that, as determined by the investigator, may interfere with or obscure the biomarker measurements","7 Years","18 Years",{"count":81,"type":22},24,"OBSERVATIONAL","Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed:\n\nAim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammonemic (HA) brain insult in patients with an inherited hyperammonemic disorder.\n\nAim 2 will be to determine if S100B, NSE, and UCHL1 are altered in patients with two other inborn errors of metabolism, Maple Syrup Urine Disease (MSUD) and Glutaric Acidemia (GA1).",[28,85,30,86,87,88],"Organic Acidemia","Glutaric Acidemia I","Fatty Acid Oxidation Disorder","Hypoxic-Ischemic Encephalopathy",[90,91,92,93,94,95,96,97,98,99,100,101,102,103],"N-acetylglutamate Synthetase Deficiency","Carbamyl Phosphate Synthetase Deficiency","Ornithine Transcarbamylase Deficiency","Argininosuccinate Synthetase Deficiency","Argininosuccinate Lyase Deficiency","Arginase Deficiency","Hyperammonemia-Hyperornithinemia-Homocitrullinuria","Medium Chain-Acyl CoA Dehydrogenase Deficiency","Very Long Chain-Acyl CoA Dehydrogenase Deficiency","Trifunctional Protein Deficiency","Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency","Carnitine Palmitoyltransferase I or II Deficiency","Carnitine\u002FAcylcarnitine Translocase Deficiency","Primary Carnitine Transport Deficiency","RECRUITING","2024-02-06",{"date":107,"type":36},"2024-02-07",{"date":109,"type":36},"2020-07-09",{"date":111,"type":22},"2027-05",{"name":113,"class":43},"Children's National Research Institute",1]