inborn carbohydrate metabolic disorder
inborn carbohydrate metabolic disorder
Explore linked clinical trials. Standard reference: MONDO:0019214172 results · Page 1 of 7
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies | 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 disorder | Recruiting | Not stated | 2026-10-05 | NCT03056794 | |
| MPS IIIA Disease Monitoring Program | Congenital, 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 3A | Not yet recruiting | Not stated | 2026-10-02 | NCT07855562 | |
| A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, X-linked disease, connective tissue disorder, cutaneous mucinosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lysosomal storage disease, metabolic disease, mucopolysaccharidosis, mucopolysaccharidosis type 2, nervous system disorder | Active, not recruiting | Phase 3 | 2026-10-02 | NCT04573023 | |
| Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Embolism and Thrombosis, Muscle Hypotonia, Neurobehavioral Manifestations, Neurologic Manifestations, Neuromuscular Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, cardiovascular disorder, congenital disorder of glycosylation, endocrine system disorder, glucose metabolism disease, hereditary disease, hypoglycemia, hypothyroidism, inborn carbohydrate metabolic disorder, inborn errors of metabolism, intellectual disability, metabolic disease, nervous system disorder, neurodevelopmental disorder, psychiatric disorder, thrombotic disease, thyroid gland disorder, vascular disorder | Recruiting | Not stated | 2026-10-02 | NCT02089789 | |
| The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Leigh syndrome, Nutritional and Metabolic Diseases, Oxidative Phosphorylation Deficiencies, Pyruvate Metabolism, Inborn Errors, brain disorder, central nervous system disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, metabolic disease, nervous system disorder | Recruiting | Not stated | 2026-10-02 | NCT01780168 | |
| Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders | Bone Diseases, Metabolic, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, GM1 gangliosidosis, GM2 gangliosidosis, Gangliosidoses, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Myoclonus, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, bone disorder, brain disorder, central nervous system disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, mucolipidosis, musculoskeletal system disorder, nervous system disorder, sphingolipidosis | Recruiting | Not stated | 2026-10-02 | NCT00029965 | |
| Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing | Bone Diseases, Developmental, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Enchondromatosis, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, bone disorder, chondroma, chondrosarcoma, connective tissue disorder, connective tissue neoplasm, cutaneous mucinosis, hemangioma, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, lysosomal storage disease, metabolic disease, mucopolysaccharidosis, mucopolysaccharidosis type 4, musculoskeletal system disorder, neoplasm, osteochondrodysplasia, sarcoma, vascular cancer | Recruiting | Not stated | 2026-10-01 | NCT06749366 | |
| An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB | Congenital, 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 | Active, not recruiting | Phase 1 / Phase 2 | 2026-10-01 | NCT06488924 | |
| Pompe Disease RWE Long-term Monitoring Program | 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 | Recruiting | Not stated | 2026-09-22 | NCT07834320 | |
| Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH | Congenital, 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 3A | Recruiting | Phase 2 / Phase 3 | 2026-09-22 | NCT02716246 | |
| Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B) | Congenital, 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 3B | Not yet recruiting | Phase 3 | 2026-09-21 | NCT07579910 | |
| A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II | Cognition Disorders, Cognitive Dysfunction, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Death, Death, Sudden, Infant Death, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Skin and Connective Tissue Diseases, Sudden Infant Death, X-linked disease, cognitive disorder, connective tissue disorder, cutaneous mucinosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lysosomal storage disease, metabolic disease, mucopolysaccharidosis, mucopolysaccharidosis type 2, nervous system disorder, neurodegenerative disease, neurodevelopmental disorder, psychiatric disorder | Active, not recruiting | Phase 2 / Phase 3 | 2026-09-21 | NCT05208281 | |
| ATR 1072 in Participants With PRKAG2 Syndrome | Arrhythmias, Cardiac, Cardiac Conduction System Disease, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hypertrophy, Nutritional and Metabolic Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Pre-Excitation Syndromes, Wolff-Parkinson-White syndrome, cardiomyopathy, cardiovascular disorder, congenital heart disease, disorder of glycogen metabolism, heart disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, metabolic disease | Recruiting | Phase 1 / Phase 2 | 2026-09-18 | NCT07738107 | |
| A Long-Term Observational Study of Patients With Fucosidosis | 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, fucosidosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, lysosomal storage disease, metabolic disease, nervous system disorder | Recruiting | Not stated | 2026-09-17 | NCT07615400 | |
| ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD | 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 | Phase 3 | 2026-09-17 | NCT03911505 | |
| Study of Cannabidiol in Sanfilippo Syndrome | Congenital, 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 | Recruiting | Phase 2 / Phase 3 | 2026-09-15 | NCT06333041 | |
| Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB | Congenital, 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 | Not yet recruiting | Phase 1 / Phase 2 | 2026-09-14 | NCT07818759 | |
| A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Death, Death, Sudden, Infant Death, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, Sudden Infant Death, X-linked disease, connective tissue disorder, cutaneous mucinosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lysosomal storage disease, metabolic disease, mucopolysaccharidosis, mucopolysaccharidosis type 2, nervous system disorder | Active, not recruiting | Phase 2 / Phase 3 | 2026-09-09 | NCT05371613 | |
| Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase) | 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 | Phase 4 | 2026-09-09 | NCT05164055 |