[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"organic-acidemia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:organic-acidemia":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,45,56,81],{"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":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100054286","natural-history-physiology-microbiome-and-biochemistry-studies-of-propionic-acidemia-100054286",false,"NCT02890342","Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia","The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia","* INCLUSION CRITERIA:\n* Patients 2 years of age or older, of any gender and ethnicity, with propionic acidemia are eligible to enroll in this protocol. Patients diagnosis will be confirmed based on biochemical and\u002For molecular and enzymatic testing. Participants of any gender and ethnicity over 1 month of age are eligible to enroll remotely for collection of outside records and natural history data. They will be eligible to enroll in the full study for in-person evaluation at 2 years of age.\n* Unaffected family members over 1 month of age, of any ethnicity or race, may be included in the study as household controls for microbiome studies and\u002For for genetic analysis. Studies in unaffected family members may include collection of medical and family history; if necessary completion of physical examination; drawing of blood for research purposes include testing of DNA; collection of stool samples for microbiome studies; collection of dietary history using pen-and-paper or electronic food diary and questionnaires; collection of saliva for metabolite and DNA analysis. In some unaffected family members without a known familial cause of propionic acidemia, exome sequencing or genome sequencing could be performed. Unaffected family members will not receive direct benefit from taking part in the study.\n* If a participant becomes pregnant while on study, the participant can remain on study. The only way to learn more about the critical biological differences in those who affected with propionic acidemia who are pregnant is to continue to follow pregnant women on study.\n\nHowever, no tests or procedures that are greater then minimal risk will be performed. 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. However, pregnant participants will be excluded from procedures such as organ tissue collection, stable isotope studies, GFR testing, and brain or cardiac MRI until the pregnancy is concluded.\n\n* Healthy volunteers may be eligible to participate in the study if they are between 12 - 40 years of age, must meet specific BMI criteria (similar to affected individuals studied).\n* Patients with propionic acidemia over 1 month of age, of any gender and ethnicity, undergoing a transplantation surgery at Children s Hospital of Pittsburgh, are eligible to participate in the tissue collection arm of the study.\n\nEXCLUSION CRITERIA:\n\n* The PI\u002FAI may decline to enroll a patient because of poor metabolic control, lack of a primary metabolic\u002Fgenetics physician, and intercurrent infection are exclusion criteria for this protocol, the likelihood that an acutely ill or poorly controlled patient will enroll will be minimized.\n* A subset of participants may be enrolled in the tissue collection part of the study only (i.e. if they are too sick to travel). We can may also arrange limited remote consultation with our research team and NIH consultants, the participants referring physician and the participant\u002Ftheir legal guardian through the telephone or an NIH supported telehealth platform for participants who are unable to safely travel to NIH. This would not replace a study visit but would be used when travel isn t possible due to extenuating circumstances (e.g. pandemic). Participants would be encouraged to follow-up for a more thorough in-person evaluation when they are able to travel to NIH.\n* For the healthy volunteers, they will be excluded if they have halitosis, cavities, dental or gingival problems, respiratory diseases (for example, asthma or recent history of COVID19), use tobacco products (for example, cigarette smoking or chewing tobacco), or use electronic nicotine delivery systems (for example, use of e-cigarettes or vaping devices), as this may interfere with accurate measurement of their volatile organic compounds. NIH staff and their family members will be eligible to participate in the healthy volunteer portion of the study.",true,"ALL","1 Month","100 Years",{"count":21,"type":22},1045,"ESTIMATED","OBSERVATIONAL","Background:\n\nPeople s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemicals very well. Too much of some chemicals can cause diseases. One of these diseases is called propionic acidemia (PA). People with PA can have problems with growth, learning heart, abdomen, and other organs. Researchers want to better understand how these problems happen.\n\nObjective:\n\nTo learn more about propionic acidemia and the genes that might contribute to it.\n\nEligibility:\n\nPeople at least 2 years old with PA who can travel to the clinic\n\nSome unaffected family members\n\nDesign:\n\nParticipants will have a 3 to 5-day hospital visit every year or every few years. Family members may have just 1 visit.\n\nDuring the family member visit, they may have:\n\nMedical history\n\nPhysical exam\n\nSamples of blood and urine\n\nQuestions about diet and a food diary\n\nDoctors and nurses may do additional studies:\n\nSamples of saliva, skin and stool\n\nFluid from a gastronomy tube, if participants have one\n\nDental and eye evaluations\n\nA kidney test - a small amount of dye will be injected and blood will be collected.\n\nConsultations with specialists\n\nA test of calories needed at rest. A clear plastic tent is placed over the participant to measure breathing.\n\nStable isotope study. Participants will take a nonradioactive substance then blow into a bag.\n\nPhotos taken of the face and body with underwear on\n\nUltrasound of the abdomen\n\nHeart tests\n\nHand x-ray\n\nBrain scan\n\nParticipants may have other tests if study doctors recommend them. They will get the results of standard medical tests and genetic tests.",[26,27,28],"Metabolic Disease","Propionic Acidemia","Organic Acidemia",[28,30,31],"Inborn Errors of Metabolism","Natural History","RECRUITING","2026-07-10",{"date":35,"type":36},"2026-07-13","ACTUAL",{"date":38,"type":36},"2016-11-29",{"date":40,"type":22},"2036-08-31",{"name":42,"class":43},"National Human Genome Research Institute (NHGRI)","NIH",2,{"id":46,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":47,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":48,"keywords":49,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":50,"lastUpdatePostDateStruct":51,"startDateStruct":53,"completionDateStruct":54,"leadSponsor":55,"locationsCount":44},"100277362",{"count":21,"type":22},[26,27,28],[28,30,31],"2026-07-01",{"date":52,"type":36},"2026-07-02",{"date":38,"type":36},{"date":40,"type":22},{"name":42,"class":43},{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":4,"eligibilityCriteria":62,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":63,"enrollmentInfo":64,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":66,"conditions":67,"keywords":69,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":77,"completionDateStruct":4,"leadSponsor":79,"locationsCount":80},"100063681","clinical-and-laboratory-study-of-methylmalonic-acidemia-100063681","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.","115 Years",{"count":65,"type":22},2275,"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....",[28,68,30],"Methylmalonic Acidemia",[28,70,71,68,72,31,73,26],"Cobalamin","Vitamin B12","Hyperhomocysteinemia","MMA","2026-06-27",{"date":76,"type":36},"2026-06-30",{"date":78,"type":36},"2004-06-07",{"name":42,"class":43},3,{"id":82,"slug":83,"hasResults":11,"nctId":84,"briefTitle":85,"officialTitle":85,"acronym":4,"eligibilityCriteria":86,"healthyVolunteers":11,"sex":17,"minAge":87,"maxAge":88,"enrollmentInfo":89,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":91,"conditions":92,"keywords":98,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":113,"lastUpdatePostDateStruct":114,"startDateStruct":116,"completionDateStruct":118,"leadSponsor":120,"locationsCount":123},"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":90,"type":22},24,"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).",[93,28,94,95,96,97],"Urea Cycle Disorder","Maple Syrup Urine Disease","Glutaric Acidemia I","Fatty Acid Oxidation Disorder","Hypoxic-Ischemic Encephalopathy",[99,100,101,102,103,104,105,106,107,108,109,110,111,112],"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","2024-02-06",{"date":115,"type":36},"2024-02-07",{"date":117,"type":36},"2020-07-09",{"date":119,"type":22},"2027-05",{"name":121,"class":122},"Children's National Research Institute","OTHER",1]