Fabry disease
Fabry disease
Explore linked clinical trials. Standard reference: MONDO:001052655 results · Page 1 of 3
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 | |
| 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 | |
| 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 Study of Patients With Fabry Disease (US Specific) | 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 stated | 2026-09-09 | NCT06906367 | |
| A Study of Replagal in Children and Adults With Fabry Disease in India | 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 4 | 2026-09-03 | NCT05067868 | |
| A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants | 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 3 | 2026-09-01 | NCT06904261 | |
| A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With 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 | Active, not recruiting | Phase 3 | 2026-08-31 | NCT03737214 | |
| Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Fabry disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare 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 | Enrolling by invitation | Not stated | 2026-08-27 | NCT07560956 | |
| A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With 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 | Not yet recruiting | Phase 3 | 2026-08-21 | NCT07778667 | |
| Long-Term Follow-up of Subjects Who Were Treated With ST-920 | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fabry Disease, Cardiac Variant, 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 | 2026-08-20 | NCT05039866 | |
| Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study | 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 stated | 2026-08-14 | NCT01581424 | |
| Cardiovascular Multimodality Imaging Study | Amyloid Neuropathies, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Cerebral Small Vessel Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fabry disease, Hemic and Lymphatic Diseases, Hypersensitivity, Delayed, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, X-linked disease, amyloidosis, aortic valve disorder, aortic valve stenosis, arrhythmogenic right ventricular cardiomyopathy, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, congenital heart disease, familial amyloid neuropathy, heart disorder, heart failure, heart valve disorder, hereditary amyloidosis, hereditary disease, hypertrophic cardiomyopathy, immune system disorder, inborn errors of metabolism, inherited neurodegenerative disorder, lymphatic system disorder, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, proteostasis deficiencies, sarcoidosis, sphingolipidosis, subvalvular aortic stenosis, vascular disorder | Recruiting | Not stated | 2026-08-10 | NCT06610019 | |
| A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With 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 2 / Phase 3 | 2026-08-10 | NCT06328608 | |
| ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Ceroid Lipofuscinosis, Neuronal, 2, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Fabry disease, GM1 gangliosidosis, Gangliosidoses, Gaucher disease, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Infant, Newborn, Diseases, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Mucopolysaccharidosis III, Neurobehavioral Manifestations, Neurologic Manifestations, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Skin and Connective Tissue Diseases, Sulfatidosis, Wolman disease, X-linked disease, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrotendinous xanthomatosis, cerebrovascular disorder, cholesteryl ester storage disease, connective tissue disorder, cutaneous mucinosis, demyelinating disease, hereditary disease, histiocytosis, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mucopolysaccharidosis, mucopolysaccharidosis type 2, mucopolysaccharidosis type 4, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis, vascular disorder, xanthomatosis | Enrolling by invitation | Not stated | 2026-07-28 | NCT05368038 | |
| Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting | 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 stated | 2026-07-08 | NCT07109375 | |
| A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Chronic Disease, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Fabry disease, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Urogenital Diseases, X-linked disease, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, chronic renal failure syndrome, hereditary disease, inborn errors of metabolism, kidney disorder, kidney failure, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis, urinary system disorder, vascular disorder | Active, not recruiting | Phase 3 | 2026-07-06 | NCT04020055 | |
| Functional Capacity in Anderson-Fabry Disease Patients | 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 stated | 2026-07-02 | NCT06884358 | |
| Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE) | Alport syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Chronic Disease, Collagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Fabry disease, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, Stomatognathic Diseases, Urogenital Abnormalities, Urogenital Diseases, X-linked disease, autoimmune disease, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cerebrovascular disorder, chronic renal failure syndrome, connective tissue disorder, hamartoma, hereditary disease, hereditary neoplastic syndrome, hereditary nephritis, immune system disorder, inborn errors of metabolism, inherited neurodegenerative disorder, kidney disorder, kidney failure, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, mouth disorder, neoplasm, nephritis, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, periodontal disorder, periodontitis, sphingolipidosis, systemic lupus erythematosus, tuberous sclerosis, urinary system disorder, vascular disorder | Recruiting | Not stated | 2026-06-26 | NCT07575347 | |
| A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With 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 | Active, not recruiting | Phase 3 | 2026-06-24 | NCT05280548 | |
| Fabry Disease Registry & Pregnancy Sub-registry | 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, Neoplasms by Histologic Type, Nutritional and Metabolic Diseases, X-linked disease, angiokeratoma, 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, neoplasm, nervous system disorder, sphingolipidosis, vascular cancer, vascular disorder | Recruiting | Not stated | 2026-06-23 | NCT00196742 | |
| German Observational Multicenter Study of Patients With Fabry Disease Under Enzyme Replacement Therapy With Pegunigalsidase-alfa | 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 | 2026-04-30 | NCT06095713 | |
| Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI | 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 | 2026-04-16 | NCT04856059 | |
| Natural History in Fabry Disease With IVS4+919G>A Mutations | 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 | 2026-04-01 | NCT07506083 | |
| Care Pathway for Patients With Fabry's Disease (Fabry-PATH) | 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 | Not yet recruiting | Not stated | 2026-03-20 | NCT07485660 | |
| Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fabry disease, Female Urogenital Diseases and Pregnancy Complications, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Urogenital 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, pregnancy disorder, sphingolipidosis, vascular disorder | Recruiting | Not stated | 2026-03-19 | NCT06941025 |