[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"medium-chain-acyl-coa-dehydrogenase-deficiency\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:medium-chain-acyl-coa-dehydrogenase-deficiency":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,41],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":27,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100575495","phase-2-study-of-sodium-phenylbutyrate-acer-001-for-the-treatment-of-pediatric-and-adults-patients-with-medium-chain-acyl-coa-dehydrogenase-deficiency-mcadd-100575495",false,"NCT06773026","Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)","A Phase 2, Open-label, Fixed-dose Study to Assess the Efficacy of Sodium Phenylbutyrate (ACER-001) in Treating Pediatric and Adult Patients With Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Resulting From the Prevalent ACADM c.985 A>G (K304E) Mutation","Inclusion Criteria:\n\n1. A diagnosis of MCADD and molecular confirmation of at least one copy of the common c.985A\\>G mutation.\n2. ≥4 years of age\n3. Able to perform and comply with study activities placement of a continuous glucose monitor, IV catheter, and all blood draws.\n4. Negative pregnancy test for all female subjects of childbearing age.\n5. Signed informed consent by the subject or parent\u002Fguardian of minors.\n6. All females of childbearing age and all sexually active males must agree to use an acceptable method of contraception throughout the study. Appropriate contraceptive methods include hormonal contraceptives (oral, injected, implanted, or transdermal), tubal ligation, intrauterine device, hysterectomy, vasectomy, or double barrier methods. Abstinence is an acceptable form of birth control, though appropriate contraception must be used if the subject becomes sexually active.\n7. Willing and able to adhere to requirements for maintaining continuous glucose monitoring.\n\nExclusion Criteria:\n\n1. Use of any investigational drug within 30 days of Day 1.\n2. Active infection (viral or bacterial) or any other intercurrent condition as reported by the subject or noted on physical exam at screening.\n3. Any clinical or laboratory abnormality of Grade 3 or greater severity according to the CTCAE v5.0, or Grade 3 elevations in liver enzymes, defined as levels 5-20 times ULN in alanine aminotransferase (ALT\u002FSGPT), or aspartate aminotransferase (AST\u002FSGOT) in a clinically stable subject.\n4. Any clinical or laboratory abnormality or medical condition that, at the discretion of the investigator, may put the subject at increased risk by participating in this study.\n5. Use of any medication known to significantly affect renal clearance (e.g., probenecid) or to increase protein catabolism (e.g., corticosteroids), or other medication known to increase ammonia levels (e.g., valproic acid or haloperidol), within the 48 hours prior to Day 1 and throughout the study.\n6. Subjects with renal insufficiency will be excluded from the study. Cutoff eGFR \\\u003C60 mL\u002Fmin\u002F1.73m2 (GFR categories G3a-G5) will be used as measure of renal insufficiency.\n7. Use of sodium benzoate within one week of Day 1.\n8. Known hypersensitivity to PAA or PBA.\n9. Breastfeeding or lactating females.\n10. Subjects at risk of hypokalemia due to pre-existing diagnosis or on medications that can cause hypokalemia.\n11. Subjects with type 1 or type 2 diabetes, or who take medications as part of their routine care that can cause hypoglycemia\n12. A positive urine drug screen at screening for drugs without a prescription\n13. Subjects who are taking medications in the antimetabolite drug class (e.g., hydroxyurea, 5-fluorouracil (5-FU), methotrexate) will be excluded; these medications can interfere with the DEXCOM sensor and cause inaccurate glucose readings","ALL","4 Years",{"count":19,"type":20},24,"ESTIMATED","INTERVENTIONAL",[23],"PHASE2","This is a medical research study to test a medication in patients 4 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 A\\>G (K304E) mutation. The medication is sodium phenylbutyrate (ACER-001), which is currently FDA approved for the treatment of Urea Cyle Disorders. Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD.",[26],"Medium-chain Acyl-CoA Dehydrogenase Deficiency",[26],"RECRUITING","2026-06-04",{"date":31,"type":32},"2026-06-08","ACTUAL",{"date":34,"type":32},"2025-06-30",{"date":36,"type":20},"2027-07",{"name":38,"class":39},"Jerry Vockley, MD, PhD","OTHER",1,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":45,"acronym":46,"eligibilityCriteria":47,"healthyVolunteers":48,"sex":16,"minAge":49,"maxAge":50,"enrollmentInfo":51,"targetDuration":4,"studyType":21,"phases":53,"briefSummary":55,"conditions":56,"keywords":57,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":63,"lastUpdatePostDateStruct":64,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":40},"100563966","metabolic-effects-of-medium-chain-fatty-acids-in-patients-with-medium-chain-acyl-coa-dehydrogenase-deficiency-and-healthy-individuals-100563966","NCT06623032","Metabolic Effects of Medium-Chain Fatty Acids in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Healthy Individuals","MEMCADD","Inclusion Criteria MCADD patients:\n\n* Male or female\n* Age between 18-80 years old\n* Diagnosed Medium-chain acyl-CoA dehydrogenase deficiency (MCADD\n\nInclusion Criteria Healthy Participants:\n\n* Male or female\n* Age between 18-80 years old\n\nExclusion Criteria both MCADD patients and healthy participants:\n\n* Diabetes\n* Kidney- or liver disease\n* Use of beta blockers or diuretics\n* Pregnant, lactating or planning to become pregnant within the study period\n* Regular intake of substantial amounts of coconut oil, palm kernel oil or any other source abundant in MCFA\n* Ongoing cancer treatment\n* Metabolic or absorptive disorders, gastric bypass operation, or use of medication affecting metabolism or food absorption\n* Inability, physically or mentally, to comply with the procedure required by the study protocol as evaluated by the primary investigator, study manager or clinical responsible",true,"18 Years","80 Years",{"count":52,"type":20},30,[54],"NA","The aim of this project is to investigate the physiological effects of intake of long-chain fatty acids (LCFA) and medium-chain fatty acids (MCFA) in patients with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and healthy individuals",[26],[58,59,60,61,62],"MCADD","Lipid metabolism","Ketone bodies","Medium-Chain Fatty Acid (MCFA)","Long-Chain Fatty Acid (LCFA)","2026-03-09",{"date":65,"type":32},"2026-03-10",{"date":67,"type":32},"2024-10-18",{"date":69,"type":20},"2027-09",{"name":71,"class":39},"University of Copenhagen"]