[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"methylmalonic-acidemia-mma\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:methylmalonic-acidemia-mma":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,40],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100626226","a-prospective-study-of-pediatric-participants-up-to-16-years-of-age-with-methylmalonic-acidemia-mma-due-to-mutations-in-the-mmut-gene-100626226",false,"NCT07432880","A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene","A Prospective, Longitudinal, Observational, Multi-centre Study of Pediatric Participants up to 16 Years of Age With Methylmalonyl-CoA Mutase Deficiency Caused by Mutations in the MMUT Gene That Results in a Diagnosis of Isolated Methylmalonic Acidemia (MMA).","Inclusion Criteria:\n\n1. Aged ≤16 years at screening visit\n2. With or without previous liver (or combined liver\u002Fkidney) transplantation at time of screening (note: number of transplanted participants capped at n=15) 3. Confirmed laboratory diagnosis of Isolated MMA caused by mutations in the MMUT gene (NOTE: if a historical genetic mutational analysis report was available at Screening visit but was not from a CLIA\u002FISO15189 approved laboratory, a confirmatory sample will be taken during the study. However the original lab report will be adequate for study eligibility consideration)..\n\n4\\. Severe MMA phenotype.\n\n* For untransplanted participants, all of the following criteria (a-c) must be met to qualify as \"severe\" MMA phenotype:\n\n  1. Serum methylmalonic acid (sMMA) level of \\>100 µmol\u002FL at the Screening visit\n  2. An unscheduled ER visit, hospitalization or requirement for use of the sick day diet regimen in the 12 months prior to the screening visit\n  3. Considered to potentially require future liver transplantation to improve metabolic stability in accordance with MMA transplantation guidelines (Baumgartner 2014, Forny 2021, Sen 2023)\n* For participants with previous liver or combined liver and kidney transplantation, the phenotype of the participant will be judged by the Investigator to be severe if both of the following were applicable prior to transplantation:\n\n  1. Pre-transplant serum methylmalonic acid (sMMA) level of \\>100 µmol\u002FL AND\n  2. Transplantation was conducted to improve metabolic stability in accordance with MMA transplantation guidelines (Baumgartner 2014, Forny 2021, Sen 2023).\n\nNOTE: sMMA pre-transplant measure must have been obtained within 6 months prior to transplant. An alternative blood MMA concentration may be used (e.g. plasma MMA, or dry blood spot), if sMMA is unavailable. Details of the assay used must be provided and additional samples will be collected during the study to allow comparison to sMMA results.\n\nExclusion Criteria:\n\n1. Participant\u002Fparent\u002Flegal guardian\u002Fcaregiver not willing to consent to participate\n2. Current participation in another interventional or therapeutic study\n3. Prior participation in a gene therapy clinical trial including mRNA therapy\n4. Participants who, in the opinion of the Site Investigator, would be unable or unsuitable to participate in the demands of the study, for example but not limited to participants unable to travel to protocol study visits or participants under palliative care.\n5. For participants who are post-liver transplant only, participant will be excluded if no prior pre-liver transplant measurements of blood MMA are available.","ALL","16 Years",{"count":19,"type":20},30,"ESTIMATED","OBSERVATIONAL","Methylmalonic Acidemia (MMA) is a severe and rare condition that affects how the body turns food into energy. In people with MMA, the body is missing or has a very low activity of a specific protein (an enzyme called methylmalonyl-CoA mutase (MMUT)) needed to break down certain proteins and fats in everyday food. Because this process does not work properly, a harmful substance called methylmalonic acid builds up in the blood and tissues, causing damage in the body.\n\nMost people with MMA have an altered MMUT gene, which affects the enzyme methylmalonyl-CoA mutase. MMA often appears in infancy or early childhood, but some people are diagnosed later.\n\nMMA affects approximately 1 in every 100,000 babies born and primarily impacts the liver, brain and kidneys. MMA poses significant challenges as it can result in complications such as dangerous acid levels in the blood, problems with the brain and nerves, visions problems, problems with how the pancreas, liver, and the kidneys work, as well as growth and development delays.\n\nThe main purpose of this observational study that tracks how the disease develops over time is to gather necessary data and evidence to confirm which signs in the body and blood test results can reliably show disease activity related to MMA. These confirmed signs and blood test results will be used for future research into developing new treatments for MMA. The data will be collected from participants with severe symptoms with and without liver transplant.",[24],"Methylmalonic Acidemia (MMA)",[26],"MMA, MCA, observational, MUT, MMUT,","NOT_YET_RECRUITING","2026-02-19",{"date":30,"type":31},"2026-02-25","ACTUAL",{"date":33,"type":20},"2026-05",{"date":35,"type":20},"2030-05",{"name":37,"class":38},"Genespire Srl","INDUSTRY",8,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":16,"minAge":47,"maxAge":48,"enrollmentInfo":49,"targetDuration":4,"studyType":51,"phases":52,"briefSummary":54,"conditions":55,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":56,"lastUpdatePostDateStruct":57,"startDateStruct":59,"completionDateStruct":61,"leadSponsor":63,"locationsCount":4},"100605503","phase-3-a-study-to-evaluate-the-effects-and-safety-of-hydroxocobalamin-in-participants-with-combined-methylmalonic-academia-cblc-type-100605503","NCT07163364","A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)","A Single-arm Phase III Clinical Study to Evaluate the Efficacy and Safety of Hydroxocobalamin Chloride Injection in Participants With Methylmalonic Acidemia (MMA) With Elevated Homocysteine (Cobalamin C Deficiency)","Inclusion Criteria:\n\n1. Age 6 months (inclusive) to \\\u003C 18 years at the time of first investigational product administration; both sexes eligible.\n2. Confirmed diagnosis of cobalamin C (cbl C)-type methylmalonic acidemia (MMA) fulfilling ALL of the following:\n\n   1. Documented vitamin B12 responsiveness: ≥ 50 % reduction from pre-treatment baseline in plasma C3\u002FC2 ratio and urinary methylmalonic acid following vitamin B12 therapy.\n   2. Presence of pathogenic MMACHC gene variants in a participant with MMA associated with hyperhomocysteinemia.\n3. Investigator-assessed clinical stability, defined as:\n\n   * No emergency room visits or hospitalizations within 6 months prior to screening for metabolic crises (e.g., electrolyte disturbances, metabolic acidosis, dysglycaemia, multi-organ failure); AND\n   * Plasma methylmalonic acid within the normal reference range at screening.\n4. Continuous treatment with injectable hydroxocobalamin for ≥ 3 months immediately preceding first dose of study drug.\n5. Written informed consent obtained from participant and\u002For legally authorised representative; willingness and ability to comply with all study visits and procedures.\n6. Female participants of childbearing potential (post-menarche) must have a negative serum β-hCG test at screening. All participants of reproductive potential (post-menarche females or males with documented spermarche) must use a highly effective contraceptive method throughout the study and for an appropriate post-study period as defined by local regulations.\n\nExclusion Criteria:\n\n1. Use of any vitamin B12 preparation other than injectable hydroxocobalamin within 3 months prior to screening.\n2. Participation in another clinical trial within 28 days or 5 half-lives of the investigational agent (whichever is longer) before screening initiation, except for screening-only participants who did not receive study drug.\n3. Prior liver or kidney transplantation, or any prior cell-based therapy.\n4. Any of the following laboratory abnormalities:\n\n   * Hemoglobin \\\u003C 90 g\u002FL; or\n   * Platelet count \\\u003C 100 × 10⁹\u002FL; or\n   * Estimated glomerular filtration rate (eGFR) \\\u003C 60 mL\u002Fmin\u002F1.73 m²; or\n   * Requirement for dialysis due to renal disease.\n5. Evidence of clinically significant hepatic dysfunction defined as:\n\n   1. Alanine aminotransferase (ALT) \\> 2.0 × upper limit of normal (ULN);\n   2. Aspartate aminotransferase (AST) \\> 2.0 × ULN or total bilirubin \\> 1.5 × ULN;\n   3. Prothrombin time \\> 1.5 × ULN.\n6. Hyperammonemia characterised by blood ammonia ≥ 3 × ULN, or any acute metabolic decompensation (e.g., lethargy, restlessness, somnolence, feeding refusal, or vomiting).\n7. Evidence on prior imaging of a space-occupying lesion suspicious for malignancy, or any known history of malignancy.\n8. New York Heart Association (NYHA) Class III or IV heart failure, or moderate-to-severe pulmonary hypertension.\n9. Clinically significant urolithiasis identified on imaging performed during screening.\n10. Presence of any of the following underlying conditions: immunodeficiency, severe malnutrition, congenital heart disease, congenital malformations of the respiratory system, or any clinically significant cardiac, hepatic, pulmonary, or renal disorder; diabetes mellitus; severe hematological disease; uncontrolled epilepsy or other significant central nervous system disorders.\n11. History of severe hypersensitivity or known hypersensitivity\u002Fintolerance to hydroxocobalamin, structurally related compounds, or any excipients in the investigational product.\n12. Any other condition or circumstance that, in the judgment of the investigator, would compromise participant safety, compliance, or data integrity.","6 Months","18 Years",{"count":50,"type":20},20,"INTERVENTIONAL",[53],"PHASE3","This study is a Single-Center, Single-Arm, open-label, Phase III clinical study to evaluate the efficacy, safety characteristics of Hydroxocobalamin Chloride Injection (20 mg\u002FmL) for Maintenance Therapy in participants with Methylmalonic Acidemia (MMA) with Elevated Homocysteine (Cobalamin C Deficiency).",[24],"2025-09-01",{"date":58,"type":31},"2025-09-09",{"date":60,"type":20},"2025-08-31",{"date":62,"type":20},"2027-04-28",{"name":64,"class":38},"CSPC ZhongQi Pharmaceutical Technology Co., Ltd."]