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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
A Long-Term Observational Study of Patients With FucosidosisBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, fucosidosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, lysosomal storage disease, metabolic disease, nervous system disorderRecruitingNot stated2026-09-17NCT07615400
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuriaRecruitingPhase 32026-08-28NCT06302348
A Study to Assess the Efficacy and Safety of Weekly Doses of GLM101 in Participants With PMM2-CDGDyskinesias, Neurologic Manifestations, PMM2-congenital disorder of glycosylation, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, atactic disorder, non-human animal, nervous system disorderActive, not recruitingPhase 2 / Phase 32026-08-14NCT06892288
A Self-test Home-use Blood Phenylalanine Monitoring System Under the Brand Name Egoo Phe System Has Been Developed for Measurement of Phenylalanine (Phe) in Individuals Diagnosed With Phenylketonuria (PKU): The Study Purpose is to Evaluate Accuracy and UsabilityBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuriaEnrolling by invitationNot stated2025-04-23NCT06940193