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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
A Study to See if Tolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Polycystic Kidney, Autosomal Recessive, Urogenital Diseases, cystic kidney disease, hereditary disease, kidney disorder, oligohydramnios, polycystic kidney disease, pregnancy disorder, urinary system disorderRecruitingPhase 32026-08-07NCT04782258
ARPKD Database StudyAbnormalities, Multiple, Agenesis of Cerebellar Vermis, Bardet-Biedl syndrome, Caroli disease, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Abnormalities, Digestive System Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Meckel syndrome, type 1, Polycystic Kidney, Autosomal Recessive, Urogenital Diseases, bile duct cyst, bile duct disorder, biliary tract disorder, brain disorder, central nervous system disorder, cystic kidney disease, eye disorder, hereditary disease, hypothalamic disorder, isolated congenital hepatic fibrosis, kidney disorder, nephronophthisis, nephronophthisis 1, nervous system disorder, polycystic kidney disease, retinitis pigmentosa, urinary system disorderRecruitingNot stated2026-06-15NCT01401998
Development of Non-Invasive Prenatal Diagnosis for Single Gene DisordersAbnormalities, Multiple, Becker muscular dystrophy, Ciliopathies, Cognition Disorders, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Duchenne muscular dystrophy, Dyskinesias, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Huntington disease, Infant, Newborn, Diseases, Male Urogenital Diseases, Muscular Disorders, Atrophic, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Polycystic Kidney, Autosomal Recessive, Sex Chromosome Disorders, Urogenital Diseases, X-linked disease, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, anemia, basal ganglia disorder, blood coagulation disease, brain disorder, central nervous system disorder, choreatic disease, chromosomal disorder, coagulation protein disease, cognitive disorder, cystic fibrosis, cystic kidney disease, dementia, familial hemolytic anemia, fragile X syndrome, hematologic disorder, hemolytic anemia, hemophilia A, hemophilia B, hemorrhagic disease, hereditary disease, hereditary neoplastic syndrome, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, kidney disorder, lung disorder, movement disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myotonic dystrophy, myotonic syndrome, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, neurofibromatosis-Noonan syndrome, neuromuscular disease, pancreas disorder, polycystic kidney disease, proximal spinal muscular atrophy, psychiatric disorder, respiratory system disorder, sickle cell disease, urinary system disorderRecruitingNot stated2026-04-23NCT06147414
Imaging Assessments of ARPKD Kidney Disease ProgressionAbnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Polycystic Kidney, Autosomal Recessive, Urogenital Diseases, cystic kidney disease, hereditary disease, kidney disorder, polycystic kidney disease, urinary system disorderRecruitingNot stated2025-11-21NCT07201025
National Registry of Rare Kidney Diseases46 XY differences of sex development, AH amyloidosis, Abnormalities, Multiple, Alport syndrome, Amino Acid Transport Disorders, Inborn, Arterial Occlusive Diseases, Bartter syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Ciliopathies, Collagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, Dent disease, Denys-Drash syndrome, EAST syndrome, Fabry disease, Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 3, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fibrosis, Gitelman syndrome, Glycosuria, Hemic and Lymphatic Diseases, Hyperoxaluria, IgA glomerulonephritis, IgG4-related retroperitoneal fibrosis, Immunoglobulin Light-chain Amyloidosis, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Polycystic Kidney, Autosomal Recessive, Skin and Connective Tissue Diseases, Urination Disorders, Urogenital Abnormalities, Urogenital Diseases, Urogenital Neoplasms, Wilms tumor, X-linked disease, adenine phosphoribosyltransferase deficiency, adrenal gland disorder, adrenal gland hyperfunction, amyloidosis, anemia, arthropathy, atypical hemolytic-uremic syndrome, autoimmune disease, autosomal dominant polycystic kidney disease, autosomal recessive proximal renal tubular acidosis, benign urinary system neoplasm, blood platelet disease, brain disorder, calcinosis, calciphylaxis, calcium metabolic disease, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cerebrovascular disorder, complement 3 glomerulopathy, connective tissue disorder, cystic kidney disease, cystinosis, cystinuria, diabetes insipidus, disorder of sexual differentiation, endocrine system disorder, familial primary hypomagnesemia with hypocalcuria, familial renal glucosuria, fibromuscular dysplasia, focal segmental glomerulosclerosis, glomerulonephritis, glucose metabolism disease, gonadal disorder, hamartoma, hematologic disorder, hematuria, benign familial, hemolytic anemia, hemolytic-uremic syndrome, hereditary disease, hereditary hypophosphatemic rickets with hypercalciuria, hereditary neoplastic syndrome, hereditary nephritis, hereditary renal hypouricemia, hyperaldosteronism, immune system disorder, immunoproliferative disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intestinal hypomagnesemia 1, kidney cancer, kidney disorder, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, membranoproliferative glomerulonephritis, membranous glomerulonephritis, metabolic disease, minimal change disease, mixed neoplasm, monoclonal gammopathy, musculoskeletal system disorder, nail disorder, nail-patella syndrome, neoplasm, nephritis, nephrogenic diabetes insipidus, nephrogenic syndrome of inappropriate antidiuresis, nephronophthisis, nephronophthisis 1, nephrosis, nephrotic syndrome, nephrotic syndrome of childhood - steroid sensitive, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, oculocerebrorenal syndrome, plasma cell neoplasm, polycystic kidney disease, primary hyperoxaluria, proteostasis deficiencies, pseudohypoaldosteronism, pseudohypoaldosteronism, type IB1, autosomal recessive, pure red-cell aplasia, renal aminoaciduria, renal cysts and diabetes syndrome, renal hypomagnesemia 3, renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, renal tubular transport disease, skin disorder, sphingolipidosis, steroid-resistant nephrotic syndrome, thrombocytopenia, thrombotic microangiopathy, tuberous sclerosis, uremia, urinary system disorder, vascular disorder, vasculitisRecruitingNot stated2023-10-04NCT06065852