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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn organic aciduria, metabolic disease, propionic acidemiaRecruitingNot stated2026-09-28NCT02890342
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSHCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Mucopolysaccharidosis III, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, connective tissue disorder, cutaneous mucinosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, lysosomal storage disease, metabolic disease, mucopolysaccharidosis, mucopolysaccharidosis type 3ARecruitingPhase 2 / Phase 32026-09-22NCT02716246
Efficacy Of Sodium Glucose Transporter Inhibitor (SGLT2I) In Adult Patients With Congenital Heart DiseaseCardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, cardiovascular disorder, congenital heart disease, heart disorder, heart failureActive, not recruitingPhase 42026-09-17NCT06260059
A Trial of Dabrafenib, Trametinib and Hydroxychloroquine for Patients With Recurrent LGG or HGG With a BRAF AberrationNeoplasms by Histologic Type, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, epithelial neoplasm, glioma, neoplasm, neuroepithelial neoplasm, primitive neuroectodermal tumorActive, not recruitingPhase 1 / Phase 22026-09-11NCT04201457
Effects of Hypoglossal Nerve Stimulation on Cognition and Language in Down Syndrome and Obstructive Sleep ApneaAbnormalities, Multiple, Apnea, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Dyssomnias, Neurobehavioral Manifestations, Neurologic Manifestations, Respiration Disorders, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, obstructive sleep apnea syndrome, respiratory system disorder, sleep apnea syndrome, sleep-wake disorderActive, not recruitingNot applicable2026-08-25NCT04801771
Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular DystrophyMuscular dystrophy congenital, merosin negativeRecruitingNot stated2026-08-19NCT06503367
TReatment for ImmUne Mediated PathopHysiologyBrain Diseases, Metabolic, Digestive System Diseases, Hepatic Insufficiency, Nutritional and Metabolic Diseases, acute liver failure, brain disorder, central nervous system disorder, hepatic encephalopathy, liver disorder, liver failure, metabolic disease, nervous system disorderActive, not recruitingPhase 22026-08-12NCT04862221
Clinical and Basic Investigations Into Congenital Disorders of GlycosylationCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, congenital disorder of glycosylation, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, metabolic diseaseRecruitingNot stated2026-07-21NCT04199000
A Pragmatic Clinical Trial of the WE BEAT Well-Being Education Program in Adolescent Congenital Heart Disease: WE BEAT CHD StudyAdolescent Congenital Heart Disease; Patient-Reported Outcome Measures (PROMs); Pragmatic Trial; Resilience, Psychological; Resiliency-building Intervention; Telemedicine-Based EducationRecruitingNot applicable2026-07-17NCT07525843
A Multicenter Access and Distribution Protocol for Unlicensed Cryopreserved Cord Blood Units (CBUs)Bone Marrow Failure Disorders, Chronic Disease, Disease Attributes, Hemic and Lymphatic Diseases, Hodgkins lymphoma, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Myeloproliferative Disorders, Neoplasms by Histologic Type, Neoplasms by Site, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Precursor Cell Lymphoblastic Leukemia-Lymphoma, acute lymphoblastic leukemia, acute myeloid leukemia, anemia, aplastic anemia, autoimmune disease, bone marrow disorder, chronic myeloid leukemia, disease, hematologic disorder, hematopoietic and lymphoid system neoplasm, immune system disorder, immunoproliferative disorder, inborn errors of metabolism, leukemia, lymphatic system disorder, lymphoid leukemia, lymphoma, lymphoproliferative syndrome, myeloid leukemia, neoplasm, non-Hodgkin lymphomaRecruitingNot stated2026-07-06NCT01351545
Pilot-Testing Real-Time Engagement for Learning to Effectively Control Type 2 DiabetesNutritional and Metabolic Diseases, diabetes mellitus, endocrine system disorder, glucose metabolism disease, hyperglycemia, metabolic disease, type 2 diabetes mellitusRecruitingNot applicable2026-02-20NCT07270016
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)Abnormalities, Multiple, Acid-Base Imbalance, Barth syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Cerebral Small Vessel Diseases, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deafness, Disease Attributes, Ear Diseases, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Kearns-Sayre syndrome, Leber hereditary optic neuropathy, Leigh syndrome, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, MELAS syndrome, MERRF syndrome, NARP syndrome, Neurologic Manifestations, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Pyruvate Metabolism, Inborn Errors, Sensation Disorders, Signs and Symptoms, Visceral myopathy familial external ophthalmoplegia, X-linked disease, acidosis disorder, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, congenital heart disease, cranial nerve neuropathy, diabetes mellitus, disease, endocrine system disorder, epilepsy, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, hereditary optic atrophy, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, inherited retinal dystrophy, lactic acidosis, maternally-inherited Leigh syndrome, metabolic disease, mitochondrial complex I deficiency, mitochondrial complex IV deficiency, nuclear-type, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, palsy, progressive external ophthalmoplegia, progressive myoclonus epilepsy, retinal degeneration, retinal disorder, retinitis pigmentosa, stroke disorder, syndromic disease, vascular disorderRecruitingNot stated2026-02-04NCT01694940
Amish/Mennonite Research Contact RegistryHemic and Lymphatic Diseases, Neoplasms by Histologic Type, Precursor Cell Lymphoblastic Leukemia-Lymphoma, acute lymphoblastic leukemia, hematologic disorder, immune system disorder, immunoproliferative disorder, leukemia, lymphatic system disorder, lymphoid leukemia, lymphoproliferative syndrome, neoplasmRecruitingNot stated2026-01-29NCT02990572
Improving Safety and Quality of Tracheal Intubation Practice in Pediatric ICUsFailed or Difficult Intubation, Sequela; Intubation Complication; Intubation; DifficultRecruitingNot stated2026-01-09NCT02493478
Fontan Udenafil Exercise Longitudinal Assessment Trial - 2Single Ventricle Heart DiseaseRecruitingPhase 32025-10-28NCT05918211
Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pyruvate Dehydrogenase Complex Deficiency Disease, Pyruvate Metabolism, Inborn Errors, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, intellectual disability, metabolic disease, nervous system disorderActive, not recruitingPhase 32025-05-04NCT02616484