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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Oral Health and Wilson's Disease: SOMAWIBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Wilson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseRecruitingNot stated2026-10-06NCT05444127
German Hypoparathyroidism RegistryBone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, bone disorder, calcium metabolic disease, endocrine system disorder, hereditary disease, hypoparathyroidism, inborn errors of metabolism, inborn metal metabolism disorder, metabolic disease, musculoskeletal system disorder, parathyroid gland disorder, pseudohypoparathyroidismRecruitingNot stated2026-10-05NCT07857460
NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hypotension, Orthostatic, Menkes disease, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, X-linked disease, autonomic nervous system disorder, brain disorder, cardiovascular disorder, central nervous system disorder, disorder of pilosebaceous unit, hereditary disease, hypotensive disorder, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, intellectual disability, metabolic disease, nervous system disorder, orthostatic intolerance, primary dysautonomia, skin disorder, vascular disorderRecruitingPhase 1 / Phase 22026-10-05NCT07398508
Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson's Disease Patients.Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Wilson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseRecruitingPhase 32026-10-02NCT07465718
A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD)Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Wilson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseRecruitingPhase 1 / Phase 22026-10-01NCT07748403
Description of Renal Involvement in Wilson's DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Wilson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseRecruitingNot stated2026-10-01NCT07075393
Cardiac Involvement in Wilson's DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Wilson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseRecruitingNot applicable2026-10-01NCT05493605
Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Wilson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseRecruitingNot applicable2026-10-01NCT05183165
The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in RussiaCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, hypophosphatasia, inborn errors of metabolism, inborn metal metabolism disorder, metabolic diseaseRecruitingNot stated2026-09-28NCT07390240
A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Wilson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseActive, not recruitingPhase 1 / Phase 22026-09-25NCT04884815
A First-in-human Study of KK8123 in Adults With X-linked HypophosphatemiaBone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hypophosphatemia, Familial, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Rickets, X-Linked Hypophosphatemic, Urogenital Diseases, X-linked hypophosphatemic rickets, bone disorder, calcium metabolic disease, hereditary disease, hypophosphatemia, hypophosphatemic rickets, inborn errors of metabolism, inborn metal metabolism disorder, kidney disorder, metabolic disease, musculoskeletal system disorder, nutritional deficiency disease, nutritional disorder, phosphorus metabolism disease, renal tubular transport disease, rickets, urinary system disorder, vitamin D deficiency, vitamin deficiency disorderRecruitingPhase 1 / Phase 22026-09-21NCT06525636
Natural History Study of Parathyroid DisordersBone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Head and Neck Neoplasms, Neoplasms by Site, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Parathyroid Neoplasms, bone disorder, calcium metabolic disease, endocrine system disorder, hereditary disease, hereditary neoplastic syndrome, hyperparathyroidism, inborn errors of metabolism, inborn metal metabolism disorder, malignant endocrine neoplasm, metabolic disease, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, musculoskeletal system disorder, neoplasm, parathyroid gland disorder, primary hyperparathyroidism, pseudohypoparathyroidismRecruitingNot stated2026-09-17NCT04969926
Efficacy and Safety of Vamifeport in Adult Participants With Homeostatic Iron Regulator Gene (HFE)-Related Hereditary HemochromatosisCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, iron metabolism disease, iron poisoning, metabolic diseaseRecruitingPhase 22026-09-16NCT07332091
Treatment of HemochromatosisCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, iron metabolism disease, iron poisoning, metabolic diseaseActive, not recruitingPhase 22026-09-16NCT00007150
Registry of Patients With HypophosphatasiaCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, hypophosphatasia, inborn errors of metabolism, inborn metal metabolism disorder, metabolic diseaseEnrolling by invitationNot stated2026-09-04NCT02306720
Theophylline for Treatment of PseudohypoparathyroidismBone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, bone disorder, calcium metabolic disease, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, metabolic disease, musculoskeletal system disorder, pseudohypoparathyroidism, pseudohypoparathyroidism type 1AEnrolling by invitationPhase 22026-09-02NCT04240821
Theophylline Treatment for PseudohypoparathyroidismBone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, bone disorder, calcium metabolic disease, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, metabolic disease, musculoskeletal system disorder, pseudohypoparathyroidismActive, not recruitingPhase 22026-09-02NCT03029429
X-linked Hypophosphatemia Disease Monitoring ProgramBone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hypophosphatemia, Familial, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Rickets, X-Linked Hypophosphatemic, Urogenital Diseases, X-linked hypophosphatemic rickets, bone disorder, calcium metabolic disease, hereditary disease, hypophosphatemia, hypophosphatemic rickets, inborn errors of metabolism, inborn metal metabolism disorder, kidney disorder, metabolic disease, musculoskeletal system disorder, nutritional deficiency disease, nutritional disorder, phosphorus metabolism disease, renal tubular transport disease, rickets, urinary system disorder, vitamin D deficiency, vitamin deficiency disorderActive, not recruitingNot stated2026-08-28NCT03651505
Subclinical Myocardial Dysfunction in Children With Wilson's DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Ventricular Dysfunction, Ventricular Dysfunction, Left, Wilson disease, basal ganglia disorder, brain disorder, cardiovascular disorder, central nervous system disorder, heart disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseActive, not recruitingNot stated2026-08-14NCT07765472
An Exploratory Study to Evaluate the Tolerability and Safety of MWAV201 in Subjects With Wilson DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Wilson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseActive, not recruitingNot applicable2026-08-12NCT06663878
International Wilson's Disease Patient Registry (iWilson Registry)Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, Wilson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, liver disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative diseaseRecruitingNot stated2026-08-11NCT05239858
Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, Tendon Injuries, disease of the tendon, enthesopathy, hereditary disease, hypophosphatasia, inborn errors of metabolism, inborn metal metabolism disorder, injury, metabolic disease, muscle tissue disorder, musculoskeletal system disorderRecruitingNot stated2026-08-05NCT05596539
A Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ALE1 in Healthy Adults and Adults With Hypophosphatasia in Order to Identify Suitable Doses of ALE1Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, hypophosphatasia, inborn errors of metabolism, inborn metal metabolism disorder, metabolic diseaseRecruitingPhase 1 / Phase 22026-08-03NCT07179640
Setmelanotide to Treat Obesity in a Patient With Pseudohypoparathyroidism Type 1a (PHP1a)Body Weight, Bone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, bone disorder, calcium metabolic disease, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, metabolic disease, musculoskeletal system disorder, nutritional disorder, obesity disorder, overnutrition, pseudohypoparathyroidism, pseudohypoparathyroidism type 1AEnrolling by invitationPhase 22026-07-23NCT07496463
Phosphorus-31 Spectroscopy in Phosphate DiabetesBone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hypophosphatemia, Familial, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Phosphaturia, Rickets, X-Linked Hypophosphatemic, Urogenital Diseases, X-linked hypophosphatemic rickets, bone disorder, calcium metabolic disease, hereditary disease, hypophosphatemia, hypophosphatemic rickets, inborn errors of metabolism, inborn metal metabolism disorder, kidney disorder, metabolic disease, musculoskeletal system disorder, nutritional deficiency disease, nutritional disorder, phosphorus metabolism disease, renal tubular transport disease, rickets, urinary system disorder, vitamin D deficiency, vitamin deficiency disorderRecruitingNot applicable2026-07-23NCT06921720