Lipid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Explore linked clinical trials. Standard reference: MESH:M0012549249 results · Page 1 of 10
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| 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 | |
| Cancer in Inherited Bone Marrow Failure Syndromes | Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Diamond-Blackfan anemia, Digestive System Diseases, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, Shwachman-Diamond syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, exocrine pancreatic insufficiency, hematologic disorder, hereditary disease, hereditary skin disorder, inherited aplastic anemia, lipomatosis, metabolic disease, pancreas disorder, pure red-cell aplasia, skin disorder | Recruiting | Not stated | 2026-10-08 | NCT00027274 | |
| 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 | |
| Investigations of Juvenile Neuronal Ceroid Lipofuscinosis | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Recruiting | Not stated | 2026-10-05 | NCT03307304 | |
| Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Not stated | 2026-10-02 | NCT00344331 | |
| 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 | |
| A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Gaucher disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis | Not yet recruiting | Not stated | 2026-10-01 | NCT05669729 | |
| Study of Velaglucerase Beta ERT in Children With Gaucher Disease | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Gaucher Disease, Type 1, Gaucher Disease, Type 3, Gaucher disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis | Not yet recruiting | Phase 3 | 2026-09-29 | NCT07847411 | |
| Computerized Decision Support for Identification and Management of Familial Hypercholesterolemia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Hypercholesterolemia, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, familial hypercholesterolemia, hereditary disease, hyperlipidemia, hyperlipoproteinemia, inborn errors of metabolism, metabolic disease | Recruiting | Not applicable | 2026-09-29 | NCT06743659 | |
| Randomized Controlled Trial of Alert-Based Computerized Decision Support for Optimizing Low-Density Lipoprotein Management | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, hereditary disease, hyperlipidemia, hyperlipoproteinemia, hyperlipoproteinemia type V, hypertriglyceridemia, inborn errors of metabolism, metabolic disease | Active, not recruiting | Not applicable | 2026-09-29 | NCT05088759 | |
| Nutritional Status of Gaucher Disease Patients | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Gaucher disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis | Not yet recruiting | Not stated | 2026-09-28 | NCT07845188 | |
| A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Phase 3 | 2026-09-28 | NCT07082725 | |
| A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, GM1 gangliosidosis, GM2 gangliosidosis, Gangliosidoses, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Phase 3 | 2026-09-24 | NCT07054515 | |
| Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease | 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 | Recruiting | Phase 1 / Phase 2 | 2026-09-24 | NCT06270316 | |
| A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, GM1 gangliosidosis, GM2 gangliosidosis, Gangliosidoses, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis | Active, not recruiting | Phase 3 | 2026-09-22 | NCT07082543 | |
| Genetic Studies of Lysosomal Storage Disorders | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Gaucher disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Parkinson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, movement disorder, nervous system disorder, neurodegenerative disease, parkinsonian disorder, sphingolipidosis, synucleinopathy | Enrolling by invitation | Not stated | 2026-09-22 | NCT00001215 | |
| Anderson-Fabry Disease Fitness Improvement Training | 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 | Recruiting | Not applicable | 2026-09-21 | NCT07495410 | |
| A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Gangliosidoses, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis | Recruiting | Phase 1 / Phase 2 | 2026-09-21 | NCT03952637 | |
| Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, familial hypercholesterolemia, hereditary disease, hyperlipidemia, hyperlipoproteinemia, inborn errors of metabolism, metabolic disease | Not yet recruiting | Not applicable | 2026-09-18 | NCT07653555 | |
| A Safety and Tolerability Trial Evaluating CTX310 in Participants With Refractory Dyslipidemias | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Hypercholesterolemia, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, familial hypercholesterolemia, hereditary disease, homozygous familial hypercholesterolemia, hyperlipidemia, hyperlipoproteinemia, hyperlipoproteinemia type V, hypertriglyceridemia, inborn errors of metabolism, metabolic disease | Recruiting | Phase 1 | 2026-09-18 | NCT07491172 | |
| Long-term Safety and Tolerability of Inclisiran in Participants With HeFH or HoFH Who Have Completed the Pediatric ORION-16, ORION-13, ORION-20, or ORION-19 Studies | 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 | 2026-09-18 | NCT05682378 | |
| Phase 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson's Disease With at Least One GBA1 Mutation (PROPEL) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Gaucher disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Parkinson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, movement disorder, nervous system disorder, neurodegenerative disease, parkinsonian disorder, sphingolipidosis, synucleinopathy | Active, not recruiting | Phase 1 / Phase 2 | 2026-09-18 | NCT04127578 | |
| Clinical Trial in Patients With Barth Syndrome- 4TAZPower | Abnormalities, Multiple, Barth syndrome, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, X-linked disease, cardiovascular disorder, congenital heart disease, heart disorder, hereditary disease, inborn errors of metabolism, metabolic disease | Recruiting | Phase 4 | 2026-09-17 | NCT07531251 | |
| A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Not stated | 2026-09-16 | NCT06192576 | |
| Caregiving Networks Across Disease Context and the Life Course | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, diabetes mellitus, endocrine system disorder, glucose metabolism disease, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Recruiting | Not stated | 2026-09-15 | NCT05007990 |