[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"methylmalonic-acidemia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:methylmalonic-acidemia":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,47,83,107,136],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":29,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":4,"leadSponsor":43,"locationsCount":46},"100063681","clinical-and-laboratory-study-of-methylmalonic-acidemia-100063681",false,"NCT00078078","Clinical and Laboratory Study of Methylmalonic Acidemia","Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders","* INCLUSION CRITERIA:\n\nPatients of any sex, ethnicity, and over 1 month of age with biochemical or genetic diagnosis of methylmalonic acidemia or cobalamin disorders are eligible to enroll in this protocol. The primary reason for expanding enrollment to young children is because individuals with cobalamin C deficiency (cblC) develop a maculopathy often in utero or early infancy yet the natural history of the disease progression in these early years has not been well defined. Our colleagues at the National Eye Institute have documented the retinal findings in the largest cohort of individuals with cblC and have developed an expertise in this disorder. A recent report suggests that early treatment may significantly improve the retinal disease and will be the focus of a future clinical trial at the NIH Clinical Center requiring a need for more natural history data from birth to early childhood. Children ages 1 month to 2 years or under 12 kg will be reviewed by the Pediatric Consult Service prior to scheduling and if approved will be evaluated in the outpatient clinic for limited evaluations blood draw, eye exam, consults. Affected infants that are not approved by the Pediatric Consult Service or are not stable enough to travel may enroll remotely by telemedicine to include in natural history data collection, such as medical history and laboratory result sharing and interpretation, molecular genetic testing, genetic counseling, nutrition consult with dietary food log analysis, neurocognitive assessments. Affected individuals of any of the other disorders under study, younger than 2 years may be evaluated at Children s National Medical Center (CNMC) as part of an evolving agreement in the Translational Program in Pediatrics, if they are deemed eligible for participation by the NIH team and the CNMC team. Patients will be diagnosed based on a determination of MMA and homocysteine levels in plasma and urine. Most will have their complementation class known or pending. Molecular genetic analyses to determine mutations will be expected to have been performed prior to acceptance into the study. Some patients who have not yet had these laboratory tests will be admitted to the protocol based upon metabolic parameters and clinical history. This latter category of patients might include individuals with a suspected genetic but unknown type of MMA.\n\nEXCLUSION CRITERIA:\n\nThe PI\u002FAI may decline to enroll a patient for reasons such as being medically unstable, residing in a hospital, sub-optimal metabolic control or for any concerns arising after review of the laboratory and clinical data; any patient who requires dialysis once or more\u002Fweek and weighs \\\u003C40 kg; any patient who is being treated for an intercurrent infection with antibiotics or has evidence of an acute infection and has metabolic symptoms; any patient who does not have a regular\u002Flocal metabolic, genetic or endocrine physician and\u002For a family physician, pediatrician, or internist; any patient who may be metabolically unstable but not acutely ill; and any patient or family who may not be able to institute recommendations for appropriate testing and care before visiting the NIH. Each family may be contacted by the NIH team prior to a pending admission to confirm that the patient is metabolically stable and ready to visit the NIH in a state of relative health, with an adequate supply of special formulas, medications, supplements, and if needed, medical equipment such as feeding pumps and replacement parts for feeding tubes. A subset of participants will be enrolled in the tissue collection part of the study only (i.e. if they are too sick to travel).\n\nPregnant women may be eligible to enroll in the study if they are affected with methylmalonic acidemia or a cobalamin disorder or are family members of an affected subject. Pregnant women are not excluded because it is important to learn more about the effects of these disorders in pregnant participants and the fetus. This research involves no more than minimal risk to the fetus. Affected subjects who are pregnant or become pregnant during their participation on the study will not be withdrawn, but will be excluded from some procedures until the pregnancy is concluded. Affected subjects who are pregnant may undergo procedures as part of their clinical care, including blood draws, genetic studies, and consultations, according to the clinical judgement of the clinical team. Pregnant participants will be excluded from some procedures such as stable isotope, GFR testing, and MRI until the pregnancy is concluded.\n\nPatients with methylmalonic acidemia or cobalamin disorders of any age, sex and ethnicity, undergoing a transplantation surgery at UPMC Children s Hospital of Pittsburgh, are eligible to participate in the tissue collection arm of the study. Pregnant women will be excluded from tissue collection at the UPMC Children s Hospital of Pittsburgh.\n\nFor the healthy volunteers, eligibility criteria include individuals that are age 18 and over.\n\nExclusion criteria include: women who are pregnant, individuals being treated with antibiotics, individuals with kidney or liver disease, individuals on a special diet such as a high protein diet or taking protein supplements and individuals with severe claustrophobia or other anxiety disorders.",true,"ALL","1 Month","115 Years",{"count":21,"type":22},2275,"ESTIMATED","OBSERVATIONAL","Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer from complications such as metabolic stroke or infarction of the basal ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis, and developmental delay. The frequency of these complications and their precipitants remain undefined. Furthermore, current treatment protocol outcomes have continued to demonstrate substantial morbidity and mortality in the patient population. Increasingly, solid organ transplantation (liver, and\u002For kidney) has been used to treat patients. Disordered transport and intracellular metabolism of vitamin B12 produces a distinct group of disorders that feature methylmalonic acidemia as well as (hyper)homocysteinemia. These conditions are named after the corresponding cellular complementation class - (cblC, cblD, cblF, cblJ and cblX) - and are also heterogenous, clinically and biochemically. The genetic disorders underlying cblE and cblG feature an isolated impairment of the activity of methionine synthase, a critical enzyme involved in the conversion of homocysteine to methionine and these disorders feature (hyper)homocysteinemia. Lastly, a group of patients can have increased methylmalonic acid and\u002For homocysteine in the blood or urine caused by variant(s) in recently identified (ACSF3) and unknown genes.\n\nIn this protocol, we will clinically evaluate patients with methylmalonic acidemia and cobalamin metabolic defects. Routine inpatient admissions will last up to 4-5 days and involve urine collection, blood drawing, ophthalmological examination, radiological procedures, MRI\u002FMRS, skin biopsies in some, and developmental testing. In a subset of patients who have or will receive renal, hepato- or hepato-renal transplants or have an unusual variant or clinical course and have MMA, a lumbar puncture to examine CSF metabolites will be performed. In this small group of patients, CSF metabolite monitoring may be used to adjust therapy.\n\nThe study objectives will be to further delineate the spectrum of phenotypes and characterize the natural history of these enzymopathies, query for genotype\u002Fenzymatic\u002Fphenotype correlations, search for new genetic causes of methylmalonic acidemia and\u002For homocysteinemia, identify new disease biomarkers and define clinical outcome parameters for future clinical trials.\n\nThe population will consist of participants previously evaluated at NIH, physician referrals, and families directed to the study from clinicaltrials.gov as well as the Organic Acidemia Association, Homocystinuria Network America and other national and international support groups. Most participants will be evaluated only at the NIH Clinical Center. However, if the NIH team decides that a patient under the age of 2 years is a candidate subject for this research protocol, that patient may enroll at the Children's National Medical Center (CNMC) site, pending approval by Dr Chapman, the Principal Investigator of the CNMC location Individuals may also enroll in the tissue collection only part of the study at the UPMC Children's Hospital of Pittsburgh or share medical history and clinical data via telemedicine visits remotely. Outcome measures will largely be descriptive and encompass correlations between clinical, biochemical and molecular parameters....",[26,27,28],"Organic Acidemia","Methylmalonic Acidemia","Inborn Errors of Metabolism",[26,30,31,27,32,33,34,35],"Cobalamin","Vitamin B12","Hyperhomocysteinemia","Natural History","MMA","Metabolic Disease","RECRUITING","2026-06-27",{"date":39,"type":40},"2026-06-30","ACTUAL",{"date":42,"type":40},"2004-06-07",{"name":44,"class":45},"National Human Genome Research Institute (NHGRI)","NIH",3,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":4,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":17,"minAge":54,"maxAge":4,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":58,"briefSummary":61,"conditions":62,"keywords":63,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":75,"completionDateStruct":77,"leadSponsor":79,"locationsCount":82},"100461959","phase-1-an-extension-study-to-evaluate-the-long-term-safety-and-clinical-activity-of-mrna-3705-in-participants-previously-enrolled-in-other-clinical-studies-of-mrna-3705-100461959","NCT05295433","An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705","A Phase 1\u002F2, Global, Open-Label, Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705","Inclusion Criteria:\n\n* Completed the assigned dose regimen treatment time period in other clinical studies of mRNA-3705 or is eligible for early transition to this study because they missed more than 3 consecutive doses of study drug due to coronavirus disease 2019 (COVID-19) vaccination during Study mRNA-3705-P101 Part 1.\n* Completed the End of treatment (EOT) Visit (or End of Study Visit in the case of unscheduled dosing) in Study mRNA-3705-P101 within 10 days of their first dose of mRNA-3705 in this extension study.\n\nExclusion Criteria:\n\n* Not expected to receive clinical benefit from continued mRNA-3705 administration, in the opinion of the Investigator.\n* Any clinical or laboratory abnormality or medical condition that, at the discretion of the Investigator, may put the individual at increased risk by participating in this study.\n* History of liver and\u002For kidney transplant.\n\nNOTE: Other inclusion and exclusion criteria may apply.","1 Year",{"count":56,"type":22},56,"INTERVENTIONAL",[59,60],"PHASE1","PHASE2","The primary objective of this study is to evaluate the long-term safety and clinical activity of mRNA-3705 administered to participants with isolated methylmalonic acidemia (MMA) due to methylmalonyl-coenzyme A mutase (MUT) deficiency who have previously participated in other clinical studies of mRNA-3705.",[27],[64,65,66,67,68,69,70,71],"Isolated Methylmalonic acidemia","Isolated methylmalonic aciduria","Elevated methylmalonic acid (MMA)","Metabolism, Inborn Errors","Genetic Diseases","Moderna","mRNA","mRNA-3705","2025-12-22",{"date":74,"type":40},"2025-12-23",{"date":76,"type":40},"2022-03-08",{"date":78,"type":22},"2034-04-02",{"name":80,"class":81},"ModernaTX, Inc.","INDUSTRY",12,{"id":84,"slug":85,"hasResults":11,"nctId":86,"briefTitle":87,"officialTitle":88,"acronym":4,"eligibilityCriteria":89,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":90,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":92,"conditions":93,"keywords":96,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":98,"lastUpdatePostDateStruct":99,"startDateStruct":101,"completionDateStruct":103,"leadSponsor":105,"locationsCount":5},"100442345","an-observational-study-of-carbaglu-for-the-treatment-of-mma-and-pa-in-adults-and-pediatrics-100442345","NCT05040178","An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics","A Non-Interventional Post-Authorization Safety Study (PASS) of Carbaglu® for the Treatment of Hyperammonemia Due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) in Adult and Pediatric Patient Populations","Inclusion Criteria:\n\n1. Provision of signed and dated informed consent\u002Fassent form\n2. Prescribed and treated with Carbaglu®\n3. Have an established diagnosis of PA or MMA defined as follows:\n\n   * Diagnosed with PA by semi quantitative urine organic acid analysis, defined as presence of elevated methylcitric acid and normal methylmalonic acid levels and no evidence of biotin related disorders in the organic acid analysis; OR\n   * Diagnosed with MMA by semi quantitative urine organic acid analysis, defined as elevation of methylmalonic acid and no evidence of vitamin B12 dependent disorder on plasma amino acid analysis (vitamin B12 dependency is defined by documented vitamin B12 responsiveness).\n\nAND\u002FOR\n\n* Confirmation by molecular genetic testing\n\nExclusion Criteria:\n\n* None",{"count":91,"type":22},20,"To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®.",[94,27,95],"Hyperammonemia","Propionic Acidemia",[97],"PA & MMA","2025-04-10",{"date":100,"type":40},"2025-04-15",{"date":102,"type":40},"2022-06-30",{"date":104,"type":22},"2032-06-30",{"name":106,"class":81},"RECORDATI GROUP",{"id":108,"slug":109,"hasResults":11,"nctId":110,"briefTitle":111,"officialTitle":112,"acronym":113,"eligibilityCriteria":114,"healthyVolunteers":11,"sex":17,"minAge":54,"maxAge":115,"enrollmentInfo":116,"targetDuration":4,"studyType":57,"phases":118,"briefSummary":120,"conditions":121,"keywords":4,"overallStatus":125,"whyStopped":4,"lastUpdateSubmitDate":126,"lastUpdatePostDateStruct":127,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":4},"100567181","myrarediet-a-novel-diet-tracking-tool-100567181","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","80 Years",{"count":117,"type":22},60,[119],"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.",[122,123,124,27],"Urea Cycle Disorder","Propionic Aciduria","Maple Syrup Urine Disease","NOT_YET_RECRUITING","2024-10-28",{"date":128,"type":40},"2024-10-30",{"date":130,"type":22},"2024-11-15",{"date":132,"type":22},"2025-12-31",{"name":134,"class":135},"Oregon Health and Science University","OTHER",{"id":137,"slug":138,"hasResults":11,"nctId":139,"briefTitle":140,"officialTitle":140,"acronym":141,"eligibilityCriteria":142,"healthyVolunteers":11,"sex":17,"minAge":143,"maxAge":144,"enrollmentInfo":145,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":147,"conditions":148,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":149,"lastUpdatePostDateStruct":150,"startDateStruct":152,"completionDateStruct":154,"leadSponsor":156,"locationsCount":157},"100376054","understanding-the-long-term-management-of-organic-acidemia-patients-with-carbaglu-a-mixed-methods-approach-100376054","NCT04176523","Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach","PROTECT","Inclusion Criteria:\n\n1. Patient has confirmed diagnosis of an organic acidemia (e.g., MMA or PA)\n2. Patient initiated treatment with carglumic acid for long-term management of MMA or PA\n3. Patient has been treated with carglumic acid for a minimum of 6 months\n4. Patient (or caregiver) is able to comply with all prospective study procedures\n5. Patient (or caregiver) is able to provide informed consent\n\nExclusion Criteria:\n\n* None","6 Months","99 Years",{"count":146,"type":22},95,"This is a prospective mixed-design study focused on the long-term management of propionic aciduria (PA) and methylmalonic aciduria (MMA) with N-carbamylglutamate (NCG) maintenance therapy. Treatment characteristics, clinical outcomes, and healthcare utilization data of patients diagnosed PA or MMA treated \\>6 months therapy with NCG are collected at baseline, 12 months, 18 months, 36 months and 54 months. Qualitative interviews with adult patients and caregivers are conducted \\>6 months after study enrollment to gain a better understanding of the disease burden and the treatment burden of patients and their families.",[27,95],"2024-02-02",{"date":151,"type":40},"2024-02-05",{"date":153,"type":40},"2019-01-15",{"date":155,"type":22},"2029-07-30",{"name":106,"class":81},32]