lysosomal storage disease
lysosomal storage disease
Explore linked clinical trials. Standard reference: MONDO:0002561255 results · Page 1 of 11
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Pilot Study of TTI-0102 in Cystinosis | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, cystinosis, hereditary disease, inborn errors of metabolism, lysosomal storage disease, metabolic disease, nephropathic cystinosis | Not yet recruiting | Phase 2 | 2026-09-23 | NCT07837726 | |
| 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 | |
| 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 | |
| DFT383 in Pediatric Participants With Nephropathic Cystinosis | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fanconi renotubular syndrome, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, cystinosis, hereditary disease, inborn errors of metabolism, kidney disorder, lysosomal storage disease, metabolic disease, nephropathic cystinosis, renal tubular transport disease, urinary system disorder | Recruiting | Phase 1 / Phase 2 | 2026-09-22 | NCT06910813 | |
| 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 | |
| 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 | |
| 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 | |
| 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 |