inborn errors of metabolism
inborn errors of metabolism
Explore linked clinical trials. Standard reference: MONDO:0019052805 results · Page 1 of 33
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Market Research of a Slow Release Protein Substitute for the Dietary Management of 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, phenylketonuria | Not yet recruiting | Not applicable | 2026-10-09 | NCT07802366 | |
| Study of YOLT-203 in Children and Adults With Primary Hyperoxaluria Type 1 (PH1) | Calculi, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hyperoxaluria, Kidney Calculi, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Urinary Calculi, Urogenital Diseases, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, kidney disorder, metabolic disease, nephrolithiasis, primary hyperoxaluria, primary hyperoxaluria type 1, urinary system disorder, urolithiasis | Recruiting | Phase 2 | 2026-10-09 | NCT07587021 | |
| RCDP Natural History Study | Bone Diseases, Developmental, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, Peroxisomal Disorders, bone disorder, chondrodysplasia punctata, hereditary disease, inborn errors of metabolism, metabolic disease, musculoskeletal system disorder, osteochondrodysplasia, rhizomelic chondrodysplasia punctata | Recruiting | Not stated | 2026-10-09 | NCT04031287 | |
| Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD | Adult-onset citrullinemia type 2, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, arginase deficiency, argininosuccinic aciduria, brain disorder, central nervous system disorder, hereditary disease, hyperammonemia due to N-acetylglutamate synthase deficiency, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Phase 1 / Phase 2 | 2026-10-08 | NCT07773246 | |
| A Study of MZE782 in Adults With 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, phenylketonuria | Recruiting | Phase 2 | 2026-10-08 | NCT07694440 | |
| A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, Ossification, Heterotopic, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, connective tissue disorder, cutaneous mucinosis, fibrodysplasia ossificans progressiva, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, lysosomal storage disease, metabolic disease, mucopolysaccharidosis, mucopolysaccharidosis type 4, muscle tissue disorder, musculoskeletal system disorder, myositis disease, myositis ossificans | Not yet recruiting | Phase 3 | 2026-10-08 | NCT07559513 | |
| Impact of a Cardiac Rehabilitation Program on Patients With Cardiac Amyloidosis | Amyloid Neuropathies, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, amyloidosis, cardiovascular disorder, familial amyloid neuropathy, heart disorder, heart failure, hereditary amyloidosis, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, proteostasis deficiencies | Recruiting | Not applicable | 2026-10-08 | NCT07494942 | |
| Pegtibatinase as a Treatment for Participants With Classical Homocystinuria (HCU) Receiving Standard of Care Treatment | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, brain disorder, central nervous system disorder, connective tissue disorder, hereditary disease, homocystinuria, hyperhomocysteinemia, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder | Recruiting | Phase 3 | 2026-10-08 | NCT06247085 | |
| A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease | Brain 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, disorder of glycogen metabolism, glycogen storage disease II, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, lysosomal storage disease, metabolic disease, nervous system disorder | Active, not recruiting | Not applicable | 2026-10-08 | NCT06150820 | |
| Agalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fabry disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis, vascular disorder | Active, not recruiting | Not stated | 2026-10-08 | NCT06052800 | |
| Patisiran-Lipid Nanoparticle (LNP) Pregnancy Surveillance Program | Amyloid Neuropathies, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, amyloidosis, familial amyloid neuropathy, hereditary amyloidosis, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, proteostasis deficiencies | Recruiting | Not stated | 2026-10-08 | NCT05040373 | |
| Long Term Extension Study in Patients With Primary Hyperoxaluria | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hyperoxaluria, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, kidney disorder, metabolic disease, primary hyperoxaluria, primary hyperoxaluria type 1, primary hyperoxaluria type 2, urinary system disorder | Active, not recruiting | Phase 3 | 2026-10-08 | NCT04042402 | |
| Analysis of Specimens From Individuals With Pulmonary Fibrosis | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Fibrosis, Hemic and Lymphatic Diseases, Hermansky-Pudlak syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, eye disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, inherited blood coagulation disorder, interstitial lung disease, lung disorder, metabolic disease, oculocutaneous albinism, platelet storage pool deficiency, pulmonary fibrosis, respiratory system disorder, skin disorder, skin pigmentation disorder | Active, not recruiting | Not stated | 2026-10-08 | NCT00084305 | |
| Clinical and Laboratory Study of Methylmalonic Acidemia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, hyperhomocysteinemia, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn organic aciduria, malabsorption syndrome, metabolic disease, methylmalonic acidemia, nutritional deficiency disease, nutritional disorder, vitamin B deficiency, vitamin deficiency disorder | Recruiting | Not stated | 2026-10-08 | NCT00078078 | |
| Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Eye Diseases, Hereditary, Fibrosis, Hemic and Lymphatic Diseases, Hermansky-Pudlak syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, digestive system disorder, eye disorder, gastroenteritis, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, inflammatory bowel disease, inherited blood coagulation disorder, interstitial lung disease, intestinal disorder, lung disorder, metabolic disease, oculocutaneous albinism, platelet storage pool deficiency, pulmonary fibrosis, respiratory system disorder, skin disorder, skin pigmentation disorder | Recruiting | Not stated | 2026-10-08 | NCT00001456 | |
| NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological Manifestations | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, lysosomal storage disease, metabolic disease | Active, not recruiting | Not applicable | 2026-10-07 | NCT07863479 | |
| Impact Of A Phe-Restricted Diet On Gut Health In Children With 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, phenylketonuria | Recruiting | Not stated | 2026-10-06 | NCT07728032 | |
| Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, familial hypercholesterolemia, hereditary disease, homozygous familial hypercholesterolemia, hyperlipidemia, hyperlipoproteinemia, inborn errors of metabolism, metabolic disease | Recruiting | Phase 3 | 2026-10-06 | NCT07473843 | |
| A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease | Cardiomegaly, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Danon disease, Hypertrophy, Hypertrophy, Left Ventricular, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiomyopathy, cardiovascular disorder, disorder of glycogen metabolism, heart disorder, heart valve disorder, hereditary disease, hypertrophic cardiomyopathy, inborn carbohydrate metabolic disorder, inborn errors of metabolism, intellectual disability, lysosomal storage disease, metabolic disease, nervous system disorder, subvalvular aortic stenosis | Recruiting | Phase 2 | 2026-10-06 | NCT06092034 | |
| Oral Health and Wilson's Disease: SOMAWI | 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 disease | Recruiting | Not stated | 2026-10-06 | NCT05444127 | |
| An Extension Trial of Asedebart in Participants With Congenital Adrenal Hyperplasia | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorder | Not yet recruiting | Phase 2 | 2026-10-05 | NCT07859293 | |
| German Hypoparathyroidism Registry | Bone 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, pseudohypoparathyroidism | Recruiting | Not stated | 2026-10-05 | NCT07857460 | |
| NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes Disease | Brain 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 disorder | Recruiting | Phase 1 / Phase 2 | 2026-10-05 | NCT07398508 | |
| A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus) | Acid-Base Imbalance, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Cognition Disorders, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Ear Diseases, MELAS syndrome, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, Tremor, acidosis disorder, anxiety disorder, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, cognitive disorder, dystonic disorder, eye disorder, headache disorder, hearing disorder, hearing loss disorder, hereditary disease, hypnic headache, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, lactic acidosis, metabolic disease, migraine disorder, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, otorhinolaryngologic disease, psychiatric disorder, vascular disorder, vision disorder, visual epilepsy | Not yet recruiting | Phase 1 / Phase 2 | 2026-10-05 | NCT06792500 | |
| Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Sex Chromosome Disorders, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, brain disorder, cardiovascular disorder, central nervous system disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, galactosemia, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, metabolic disease, nervous system disorder, sex chromosome disorder of sex development | Recruiting | Not stated | 2026-10-05 | NCT04948658 |