[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"inborn-errors-of-metabolism\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:inborn-errors-of-metabolism":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,7,0,[8,47,93,118,170,196,221],{"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":18,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":58,"briefSummary":61,"conditions":62,"keywords":76,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":85,"completionDateStruct":87,"leadSponsor":89,"locationsCount":92},"100580604","phase-1-phase-12-cd45ra-depleted-stem-cell-addback-to-prevent-viral-or-fungal-infections-post-tcrabcd19-depleted-hsct-100580604","NCT06839456","Phase 1\u002F2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab\u002FCD19 Depleted HSCT","Phase 1\u002F2 Study: CD45RA Depleted Peripheral Stem Cell Addback to Prevent Viral and Fungal Infections Following Alternative Donor TCRab\u002FCD19 Depleted Hematopoietic Stem Cell Transplant","Inclusion Criteria:\n\n1. Disease for which allogeneic HSCT may be curative.\n2. Remission status of hematologic malignancies and additional disease-specific eligibility determinations will be according to standards of practice within the CHOP Cellular Immunotherapy and Transplant Program (CTTS).\n3. Patients must be 25 years of age and less\n4. Evaluation for organ and infectious status as per our CTTS standard operating procedure.\n5. Signed consent by parent\u002Fguardian or able to give consent if 18 years of age and older.\n6. Participants of childbearing potential must have a negative pregnancy test as per institutional SOP.\n\nExclusion Criteria:\n\n1. Patients who have performance score less than 60.\n2. No suitable donor available for mobilized peripheral stem cells.\n3. Patients with Hodgkin lymphoma or non-Burkitt, non-lymphoblastic lymphoma.\n4. Planned receipt of alemtuzumab during conditioning.\n5. Patients with an available 10\u002F10 HLA matched sibling donor.\n6. Patients who do not meet institutional disease, organ or infectious criteria.\n\nDonor selection and eligibility:\n\n1. Unrelated donor meets National Marrow Donor Program criteria for donation.\n2. Related donor (at least haploidentical) willing and able to donate mobilized peripheral stem cells.\n3. HLA testing\u002Fmatching\n\n   * HLA testing to be done by molecular methods for A, B, C, DRB1, DQB1\n   * Related donor: Must be ≥ 5\u002F10 match\n   * Unrelated donor: 10\u002F10 or 9\u002F10 match\n   * KIR typing for haploidentical donor for hematologic malignancies\n   * Donor specific HLA antibodies (DSA) should be assessed for all subjects receiving an HLA mismatched graft (≤ 9\u002F10).\n4. Donor must be willing to undergo granulocyte colony stimulating factor (GCSF) mobilization and peripheral blood stem cell collection\n5. Donors must be willing to sign consent to participate in this study.","25 Years",{"count":56,"type":22},100,"INTERVENTIONAL",[59,60],"PHASE1","PHASE2","The major morbidities of allogeneic hematopoietic stem cell transplant (HSCT) using donors that are not human leukocyte antigen (HLA) matched siblings are graft vs host disease (GVHD) and life- threatening infections. T cell receptor alpha beta (TCRαβ) T lymphocyte depletion and CD19+ B lymphocyte depletion of alternative donor hematopoietic stem cell (HSC) grafts is effective in preventing GVHD, but immune reconstitution may be delayed, increasing the risk of infections. The central hypothesis of this study is that an addback of CD45RO memory T lymphocytes, derived from a fraction of the original donor peripheral stem cell product depleted of CD45RA naïve T lymphocytes, will accelerate immune reconstitution and help decrease the risk of infections in TCRab\u002FCD19 depleted PSCT.",[63,64,65,66,67,68,69,70,71,72,73,74,28,75],"Leukemia","High Risk Acute Lymphoblastic Leukemia","High Risk Acute Myeloid Leukemia","Relapse Leukemia","MDS (Myelodysplastic Syndrome)","Relapsed Non-Hodgkin Lymphoma","Acquired Aplastic Anemia","Inherited BMF Syndrome","Immunodeficiency","Primary Immune Regulatory Disorder","Hemoglobinopathies","Bone Marrow Failure","HLH",[77,78,79,80,81],"alpha beta T cell depletion","CD45RA","CD45RO","GVHD prevention","Memory T cells","2026-04-13",{"date":84,"type":40},"2026-04-15",{"date":86,"type":40},"2025-03-21",{"date":88,"type":22},"2032-03",{"name":90,"class":91},"Children's Hospital of Philadelphia","OTHER",1,{"id":94,"slug":95,"hasResults":11,"nctId":96,"briefTitle":97,"officialTitle":98,"acronym":99,"eligibilityCriteria":100,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":101,"enrollmentInfo":102,"targetDuration":4,"studyType":57,"phases":103,"briefSummary":105,"conditions":106,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":110,"lastUpdatePostDateStruct":111,"startDateStruct":113,"completionDateStruct":115,"leadSponsor":117,"locationsCount":92},"100236493","early-phase-1-expanded-access-protocol-using-cd3cd19-depleted-pbsc-100236493","NCT02356653","Expanded Access Protocol Using CD3+\u002FCD19+ Depleted PBSC","Expanded Access Protocol Using CD3+\u002FCD19+ Depleted Unrelated Donor or Related Donor Peripheral Stem Cells","ExpMACs","Inclusion Criteria:\n\n1. Patients who lack a fully HLA matched sibling and who are candidates for allogeneic hematopoietic stem cell transplant (HSCT) but are not deemed suitable candidates per their treating clinical team for current open institutional protocols using ClinMACs device for CD3+\u002FCD19+ depletion.\n2. Patients with the following transplantable diseases:\n\n   Non-malignant diseases:\n\n   Metabolic storage diseases correctable by HSCT, Bone marrow failure syndromes, Immunodeficiencies\u002Fimmune dysregulation syndromes\u002Fincluding HLH, Hemoglobinopathies correctable and requiring HSCT, and Other diseases treated with HSCT\u002FOther non-malignant blood, metabolic, or immune disorders for which HSCT has been recommended\n\n   Malignant diseases:\n\n   Acute leukemias, Chronic leukemias, Lymphomas, Myelodyplastic syndrome\n3. Signed informed consent\n4. Lansky or Karnofsky performance ≥60\n5. Hematologic and Organ Function per current institutional SOP.\n6. Infectious Evaluation as per current institutional SOP.\n7. Participants of childbearing potential must have a negative pregnancy test as per institutional SOP\n8. In cases that are deemed clinical emergencies (primary or secondary graft failure, severe marrow suppression), the above status criteria will be waived.\n9. Patients must have an identified living donor\n\n   * Donor selection will comply with 21 CFR 1271\n   * Unrelated donor that meets the matching criteria of the NMDP with allele matching at HLA -A, -B, -C, -DRB1, and -DQB1: Unrelated donors may be a 10\u002F10 match, a 9\u002F10 match, or an 8\u002F10 match if one of the mismatches is at DQB1\n   * Related donor suitable for mobilization infectious disease criteria as per SOP, including HIV, HepB, HepC PCR negative.\n   * CHOP BMT procedures apply for determining donor eligibility, including donor screening and testing for relevant communicable disease agents and diseases. Our donor collection program is FACT accredited.\n   * Unrelated donor identified through the National Marrow Donor Program (NMDP) and fulfills the NMDP criteria for donation. Unrelated donor willing and able to undergo mobilization of peripheral stem cells and apheresis.\n   * The donors selected for this IND will either be unrelated donors identified through the National Marrow Donor Program (NMDP) or related donors. Regarding the unrelated donors; NMDP procedures for determining donor eligibility include donor screening and testing for relevant communicable disease agents and diseases\n\nExclusion Criteria:\n\n1. Uncontrolled bacterial, viral or fungal infections\n2. Suitable, fully HLA matched sibling donor\n3. Donor unable to donate peripheral stem cells\n4. Pregnant participants","30 Years",{"count":56,"type":22},[104],"EARLY_PHASE1","The goal of this protocol is to expand access for patients who lack a fully HLA (Human leukocyte antigen) matched sibling donor and who are candidates for allogeneic hematopoietic stem cell transplant (HSCT). These patients have a serious or immediately life-threatening disease for which HSCT is indicated. These patients are not eligible for other Children's Hospital of Philadelphia IRB approved protocols that utilize CliniMACs technology for T depletion.",[63,28,107,108,109],"Bone Marrow Failure Syndromes","Immunodeficiencies","Immunodysregulation Polyendocrinopathy Enteropathy X-linked Syndrome","2026-02-18",{"date":112,"type":40},"2026-02-20",{"date":114,"type":4},"2013-12",{"date":116,"type":22},"2030-01",{"name":90,"class":91},{"id":119,"slug":120,"hasResults":11,"nctId":121,"briefTitle":122,"officialTitle":123,"acronym":4,"eligibilityCriteria":124,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":125,"targetDuration":127,"studyType":23,"phases":4,"briefSummary":128,"conditions":129,"keywords":155,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":161,"lastUpdatePostDateStruct":162,"startDateStruct":164,"completionDateStruct":166,"leadSponsor":168,"locationsCount":92},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":126,"type":22},380,"10 Years","The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[130,131,132,133,134,135,136,137,138,28,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154],"Rare Diseases","Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Von Hippel-Lindau Disease","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Gaucher Disease","Congenital Adrenal Hyperplasia","Hereditary Angioedema","Pulmonary Hypertension","Wilson Disease","Vascular Anomalies","Mastocytosis","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Prader-Willi Syndrome","Hirschsprung Disease","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[156,157,158,133,159,160,136,137,138,28,139,140,141,142,143,144,145,146,147,148,149,150,151,152,154],"rare diseases","amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":163,"type":40},"2026-01-14",{"date":165,"type":40},"2024-07-01",{"date":167,"type":22},"2034-12-31",{"name":169,"class":91},"Hospital Italiano de Buenos Aires",{"id":171,"slug":172,"hasResults":11,"nctId":173,"briefTitle":174,"officialTitle":174,"acronym":4,"eligibilityCriteria":175,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":176,"enrollmentInfo":177,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":179,"conditions":180,"keywords":181,"overallStatus":186,"whyStopped":4,"lastUpdateSubmitDate":187,"lastUpdatePostDateStruct":188,"startDateStruct":190,"completionDateStruct":192,"leadSponsor":194,"locationsCount":92},"100566406","growth-and-development-of-children-with-inborn-errors-of-metabolism-in-assiut-governorate-100566406","NCT06654765","Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate","Inclusion Criteria:\n\n* Under five years old children with confirmed diagnosis of IEM.\n* Attending the study settings.\n\nExclusion Criteria:\n\n* Patients diagnosed since birth with dysmorphic features.\n* Patients diagnosed since birth with congenital anomalies.\n* Patients with other neurological deficits (e.g. cerebral palsy, convulsions, birth anoxia…..)","5 Years",{"count":178,"type":22},201,"Assessment of growth and development of children with inborn errors of metabolism in Assiut Governorate",[28],[182,183,184,185],"Growth","Development","IEM","Assiut","NOT_YET_RECRUITING","2024-10-22",{"date":189,"type":40},"2024-10-23",{"date":191,"type":22},"2025-08",{"date":193,"type":22},"2026-12",{"name":195,"class":91},"Assiut University",{"id":197,"slug":198,"hasResults":11,"nctId":199,"briefTitle":200,"officialTitle":201,"acronym":4,"eligibilityCriteria":202,"healthyVolunteers":11,"sex":17,"minAge":203,"maxAge":54,"enrollmentInfo":204,"targetDuration":4,"studyType":57,"phases":206,"briefSummary":208,"conditions":209,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":211,"lastUpdatePostDateStruct":212,"startDateStruct":214,"completionDateStruct":216,"leadSponsor":218,"locationsCount":220},"100471008","targeted-interventions-for-successful-transition-and-transfer-of-adolescents-with-inborn-errors-of-metabolism-to-adult-services-100471008","NCT05413278","Targeted Interventions for Successful Transition and Transfer of Adolescents With Inborn Errors of Metabolism to Adult Services","Fit for Transfer: Targeted Interventions for Successful Transition and Transfer of Adolescents With Inborn Errors of Metabolism to Adult Metabolic Services","Inclusion Criteria:Patients\n\n* with an inborn error of metabolism in the care of a specialized metabolic care unit\n* requiring specialized adult metabolic care\n* at least 14 years old\n* with a disease for which at least one biochemical and \u002F or physical parameter disease marker is well established .\n\nExclusion Criteria:\n\nPatients -\n\n* with insufficient knowledge of the German\n* with cognitive impairment to a degree that consent, and participation would be impossible\n* in an end-of-life situation\n* with a disease for which no biochemical and \u002F or physical parameter disease marker is well established","14 Years",{"count":205,"type":22},20,[207],"NA","Main aims of this project are\n\n* To assess the baseline status-quo of transition and \"fitness for transfer\" in terms of information about the adult centre and team, organisational and practical skills (blood sampling and sending, how to make an appointment etc.), disease- and treatment-related knowledge, health-related quality of life (HrQoL), and self-efficacy in adolescnets with inborn errors of metabolism. Biochemical or physical parameters as appropriate for the respective diseases from 12 months before are documented.\n* To provide targeted, structured intervention modules (using available and, if necessary, adapted materials).\n* To measure the effects of these interventions on information about adult services short-term (within a month) and to re-assess all other baseline status-quo parameters long-term (6 and 12 months later). Psychological assessments will be complemented by biochemical or physical parameters as appropriate for the respective diseases and indicative for transition success.",[210,28],"Transition","2024-08-05",{"date":213,"type":40},"2024-08-06",{"date":215,"type":40},"2024-01-01",{"date":217,"type":22},"2025-12-31",{"name":219,"class":91},"University Children's Hospital, Zurich",8,{"id":222,"slug":223,"hasResults":11,"nctId":224,"briefTitle":225,"officialTitle":225,"acronym":226,"eligibilityCriteria":227,"healthyVolunteers":16,"sex":17,"minAge":228,"maxAge":229,"enrollmentInfo":230,"targetDuration":4,"studyType":57,"phases":232,"briefSummary":233,"conditions":234,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":235,"lastUpdatePostDateStruct":236,"startDateStruct":238,"completionDateStruct":240,"leadSponsor":242,"locationsCount":244},"100543826","blood-spot-and-urine-metabolomic-screening-applied-to-rare-diseases-100543826","NCT06360913","Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases","BUSARD","Inclusion Criteria:\n\n* Subjects from newborn to elderly, presumably not affected by a rare disease (Group 1) (Newborns: only residual DBS from newborn screening from full-term newborns and with a negative official newborn screening test, de-identified samples not requiring an ICF, no urine sample for this category), OR\n* Patients from newborn to elderly, affected by a genetic metabolic disease (genetic confirmation is required) or another confirmed rare disease for which a metabolic derangement is suspected (Group 2), OR\n* Patients from newborn to elderly, affected by autism spectrum disorders and evaluated according to the DSMV classification (Group 2), OR\n* Patients suspected of being affected by a genetic metabolic disease or another rare disease with potential metabolic derangement (i.e. for which genetic and\u002For biochemical test(s) are non-conclusive or in progress) (Group 3)\n\nExclusion Criteria:\n\n* Subjects or patients for which the data required for analysis and assignment in the correct subgroup are lacking\n* No informed consent signed","1 Day","99 Years",{"count":231,"type":22},2286,[207],"The primary goal of this study is to establish a biobank of dried blood spots and urines from a large control cohort and collect several cohorts as large as possible of patients affected or suspected of being affected by rare diseases (mainly hereditary metabolic diseases) or by autism spectrum disorders.\n\nA metabolomic database using a high-resolution mass spectrometer (i.e. the \"Device\") will be generated and specific biomarkers for the diseases will be confirmed or uncovered. The ultimate goal is to facilitate and improve the diagnosis and screening of the patients affected by these disorders, but also to improve the knowledge about the biochemical mechanisms involved over the course of the selected pathologies.\n\nHigh-resolution mass spectrometry allows the measurement of thousands of metabolites in a single analysis. The current biochemical tests used for the diagnosis of hereditary metabolic diseases are only using a combination of maximum a few dozens of biomarkers in one analysis.\n\nObjectives Unravel new biomarkers for diagnosis (+\u002F- explore the altered pathways…) Uncover and\u002For validate newborn screening biomarkers through retrospective analysis of preserved newborn DBS from confirmed patients (useful for first or second tier biochemical NBS testing!) Validation of LC-MS qTOF for metabolomics screening as first line diagnostic test (thousands of metabolites) using diagnostic algorithms (modified z-scores) \\& continuous optimization by adding new cases and new controls in the database Generation of a biobank of urines and DBS from rare diseases (IEMs) \\& from a large reference population useful for other research applications",[28,130],"2024-04-11",{"date":237,"type":40},"2024-04-12",{"date":239,"type":40},"2024-01-03",{"date":241,"type":22},"2028-01",{"name":243,"class":91},"Cliniques universitaires Saint-Luc- Université Catholique de Louvain",4]