glycogen storage disease II
glycogen storage disease II
Explore linked clinical trials. Standard reference: MONDO:000929038 results · Page 1 of 2
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Developing a Management Approach for Patients 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 stated | 2026-09-03 | NCT03694561 | |
| Gene Transfer Study in Patients 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 | Phase 1 / Phase 2 | 2026-09-02 | NCT04174105 | |
| A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare 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 | Not yet recruiting | Phase 1 | 2026-08-26 | NCT07787650 | |
| A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants 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 | Recruiting | Phase 1 | 2026-08-17 | NCT07354724 | |
| An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare 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 | Not yet recruiting | Phase 2 | 2026-08-06 | NCT07750990 | |
| A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT 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, neuromuscular disease | Recruiting | Phase 1 / Phase 2 | 2026-07-20 | NCT07282847 | |
| Early Check: Expanded Screening in Newborns | 3-hydroxy-3-methylglutaric aciduria, 3-hydroxyacyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-phosphoglycerate dehydrogenase deficiency, AGAT deficiency, Abnormalities, Multiple, Adrenal hyperplasia, congenital, type 5, Adrenoleukodystrophy, Neonatal, Angelman syndrome, Aortic Stenosis, Supravalvular, Arrhythmias, Cardiac, Barth syndrome, Bone Diseases, Developmental, Bone Diseases, Endocrine, Bone Diseases, Metabolic, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Canavan disease, Cardiac Conduction System Disease, Cardiovascular Abnormalities, Chronic Disease, Citrullinemia 1, Collagen Diseases, Congenital Abnormalities, Congenital Hyperinsulinism, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Digestive System Diseases, Disease Attributes, Duchenne muscular dystrophy, Dwarfism, Dyslipidemias, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fructose Metabolism, Inborn Errors, G6PD deficiency, Glycogen Storage Disease, Type IXA2, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 4, Hyperphenylalaninemia, BH4-Deficient, B, Hypophosphatemia, Familial, Imprinting Disorders, Infant, Newborn, Diseases, Jervell and Lange-Nielsen syndrome, Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 2, Krabbe disease, Leber congenital amaurosis 2, Leukoencephalopathies, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, MPI-congenital disorder of glycosylation, Male Urogenital Diseases, Maple syrup urine disease, type 1A, Maple syrup urine disease, type 1B, Maple syrup urine disease, type 2, Menkes disease, Methylmalonic aciduria cblB type, Mucopolysaccharidosis I, Mucopolysaccharidosis III, Mucopolysaccharidosis Type IV A, Muscular Disorders, Atrophic, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Niemann-Pick disease, Niemann-Pick disease type A, Niemann-Pick disease type C, Niemann-Pick disease, type C1, Niemann-Pick disease, type C2, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Pitt-Hopkins syndrome, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rett syndrome, Schnyder corneal dystrophy, Sex Chromosome Disorders, Skin and Connective Tissue Diseases, Smith-Lemli-Opitz syndrome, Stickler syndrome type 1, Stickler syndrome type 2, Stress Disorders, Traumatic, Sulfatidosis, Tyrosinemia, Type I, Urogenital Abnormalities, Urogenital Diseases, Usher syndrome type 1B, Usher syndrome type 1C, Usher syndrome, type 1C, Usher syndrome, type 1F, Ventricular Outflow Obstruction, Waardenburg Syndrome, Type 2E, Waardenburg syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Wilson disease, Wolman disease, X-Linked Combined Immunodeficiency Diseases, X-linked Alport syndrome, X-linked disease, X-linked hypophosphatemic rickets, acrodermatitis enteropathica, acute stress disorder, adenine phosphoribosyltransferase deficiency, albinism, anemia, aortic valve disorder, aortic valve stenosis, apparent mineralocorticoid excess, arginase deficiency, argininosuccinic aciduria, autosomal recessive Alport syndrome, basal ganglia disorder, beta thalassemia, beta-ketothiolase deficiency, biotin-responsive basal ganglia disease, biotinidase deficiency, blood coagulation disease, blood platelet disease, bone disorder, brain disorder, calcium metabolic disease, carbamoyl phosphate synthetase I deficiency disease, cardiovascular disorder, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyltransferase II deficiency, carnitine-acylcarnitine translocase deficiency, central nervous system disorder, cerebrotendinous xanthomatosis, cholesteryl ester storage disease, chromosomal disorder, chronic granulomatous disease, citrullinemia, coagulation protein disease, combined immunodeficiency due to ZAP70 deficiency, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect 2, congenital heart disease, congenital hypothyroidism, congenital isolated adrenocorticotropic hormone deficiency, connective tissue disorder, creatine transporter deficiency, cutaneous mucinosis, cystic fibrosis, cystinosis, demyelinating disease, diabetes mellitus, disease, disorder of glycogen metabolism, disorder of pilosebaceous unit, dopa-responsive dystonia due to sepiapterin reductase deficiency, encephalopathy due to GLUT1 deficiency, endocrine system disorder, epilepsy, epilepsy, early-onset, vitamin B6-dependent, epithelial neoplasm, eye disorder, factor VII deficiency, factor X deficiency, familial hemolytic anemia, familial isolated deficiency of vitamin E, fragile X syndrome, fructose-1,6-bisphosphatase deficiency, galactosemia, glucose metabolism disease, glutaryl-CoA dehydrogenase deficiency, glycogen storage disease I, glycogen storage disease II, glycogen storage disease IXb, glycogen storage disease IXc, glycogen storage disease Ib, guanidinoacetate methyltransferase deficiency, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemophilia A, hemophilia B, hemorrhagic disease, hereditary disease, hereditary fructose intolerance, hereditary neoplastic syndrome, hereditary nephritis, hereditary skin disorder, histiocytosis, holocarboxylase synthetase deficiency, homocystinuria, homocystinuria due to methylene tetrahydrofolate reductase deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency, hyperhomocysteinemia, hyperinsulinemic hypoglycemia, familial, 2, hyperinsulinism, hyperinsulinism-hyperammonemia syndrome, hypoglycemia, hypophosphatasia, hypophosphatemia, hypophosphatemic rickets, hypopigmentation of the skin, hypothyroidism, hypothyroidism due to TSH receptor mutations, immune system disorder, inborn carbohydrate metabolic disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inborn mitochondrial metabolism disorder, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, isovaleric acidemia, kidney disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, maturity-onset diabetes of the young type 4, medium chain acyl-CoA dehydrogenase deficiency, metabolic disease, metachromatic leukodystrophy, methylcobalamin deficiency type cblE, methylmalonic aciduria and homocystinuria, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria, cblA type, mitochondrial trifunctional protein deficiency, motor neuron disorder, movement disorder, mucopolysaccharidosis, mucopolysaccharidosis type 1, mucopolysaccharidosis type 2, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 4, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, multiple carboxylase deficiency, multiple endocrine neoplasia, multiple endocrine neoplasia type 2B, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neonatal severe primary hyperparathyroidism, neoplasm, nephritis, nervous system disorder, neurodegenerative disease, neuroepithelial neoplasm, neuromuscular disease, non-Langerhans cell histiocytosis, nutritional deficiency disease, nutritional disorder, obesity disorder, ocular cancer, oculocutaneous albinism, optic choroid disorder, ornithine aminotransferase deficiency, ornithine carbamoyltransferase deficiency, ornithine translocase deficiency, overnutrition, pancreas disorder, pancreatic agenesis 1, permanent neonatal diabetes mellitus, phagocyte bactericidal dysfunction, phenylketonuria, phosphorus metabolism disease, pituitary hormone deficiency, combined, 1, platelet storage pool deficiency, post-traumatic stress disorder, primary hyperoxaluria type 1, primary hyperoxaluria type 2, primary hyperoxaluria type 3, primitive neuroectodermal tumor, propionic acidemia, pseudohypoaldosteronism, pseudohypoaldosteronism type 1, psychiatric disorder, pyridoxal phosphate-responsive seizures, pyridoxine-dependent epilepsy, renal tubular transport disease, respiratory system disorder, retinal cancer, retinal disorder, retinoblastoma, riboflavin transporter deficiency, rickets, severe combined immunodeficiency, severe combined immunodeficiency due to DCLRE1C deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, sickle cell disease, skin disorder, skin pigmentation disorder, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, steroid inherited metabolic disorder, sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, thalassemia, thyroid dyshormonogenesis 2A, thyroid dyshormonogenesis 3, thyroid dyshormonogenesis 5, thyroid dyshormonogenesis 6, thyroid gland disorder, transcobalamin II deficiency, transient neonatal diabetes mellitus, tuberous sclerosis 1, tuberous sclerosis 2, tyrosine hydroxylase deficiency, tyrosinemia, urea cycle disorder, urinary system disorder, uveal disorder, very long chain acyl-CoA dehydrogenase deficiency, vitamin D deficiency, vitamin deficiency disorder, von Willebrand disease (hereditary or acquired), von Willebrand disease 3, xanthomatosis | Active, not recruiting | Not stated | 2026-07-01 | NCT03655223 | |
| Phrenic Nerve and Diaphragm Electrophysiology in 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 | Recruiting | Not stated | 2026-06-24 | NCT07664930 | |
| A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD) | 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 stated | 2026-06-24 | NCT04848779 | |
| Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare 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 | Phase 2 | 2026-06-23 | NCT07123155 | |
| Pompe Disease Registry Protocol | 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 | 2026-06-23 | NCT00231400 | |
| Safety and Efficacy of Avalglucosidase Alfa in Patients With Non-classic Pompe Disease Aged ≥ 5 Years | 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 | 2026-06-17 | NCT07652814 | |
| Pompe Pregnancy Sub-Registry | 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 | 2026-04-16 | NCT00567073 | |
| Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa | 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 | 2026-04-08 | NCT04910776 | |
| Determination of CRIM Status and Longitudinal Follow-up of Individuals With 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 | Recruiting | Not stated | 2026-04-08 | NCT01665326 | |
| China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD | 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 | Phase 4 | 2026-03-23 | NCT06666413 | |
| Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Infections, Lambert-Eaton myasthenic syndrome, Lysosomal Storage Diseases, Nervous System, Muscular Disorders, Atrophic, Neoplasms by Site, Neuroinflammatory Diseases, Nutritional and Metabolic Diseases, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Picornaviridae infectious disease, RNA Virus Infections, TDP-43 proteinopathy, amyotrophic lateral sclerosis, autoimmune disease, autoimmune disorder of the nervous system, autonomic nervous system disorder, brain disorder, central nervous system disorder, central nervous system infectious disorder, central nervous system malformation, centronuclear myopathy, chronic inflammatory demyelinating polyradiculoneuropathy, congenital structural myopathy, demyelinating disease, disorder of glycogen metabolism, enterovirus infectious disease, facioscapulohumeral muscular dystrophy, glycogen storage disease II, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, immune system disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inclusion body myositis, inherited neurodegenerative disorder, lateral sclerosis, lysosomal storage disease, metabolic disease, motor neuron disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myelitis, myositis disease, nemaline myopathy, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, orthostatic intolerance, paraneoplastic syndrome, peripheral nervous system disorder, poliomyelitis, polyneuropathy, polyradiculoneuropathy, postpoliomyelitis syndrome, primary dysautonomia, progressive muscular atrophy, proteostasis deficiencies, spinal cord disorder, spinal muscular atrophy, viral infectious disease | Recruiting | Not applicable | 2026-03-17 | NCT07478172 | |
| A Global Prospective Observational Registry of Patients With 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 | Recruiting | Not stated | 2026-03-10 | NCT06121011 | |
| Cognitive and Neurological Pathologies in 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 | Recruiting | Not stated | 2026-03-04 | NCT04639336 | |
| Avalglucosidase Alfa Pregnancy Study | 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 | 2026-01-16 | NCT05734521 | |
| Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Friedreich ataxia, Guillain-Barre syndrome, Lambert-Eaton myasthenic syndrome, Lysosomal Storage Diseases, Nervous System, Muscular Disorders, Atrophic, Neoplasms by Site, Nutritional and Metabolic Diseases, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Post-Infectious Disorders, Spinocerebellar Degenerations, TDP-43 proteinopathy, amyotrophic lateral sclerosis, autoimmune disease, autoimmune disorder of the nervous system, brain disorder, central nervous system disorder, central nervous system malformation, cerebellar disorder, chronic inflammatory demyelinating polyradiculoneuropathy, demyelinating disease, disorder of glycogen metabolism, facioscapulohumeral muscular dystrophy, glycogen storage disease II, hereditary disease, hereditary motor and sensory neuropathy, immune system disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inclusion body myositis, inherited neurodegenerative disorder, lysosomal storage disease, metabolic disease, motor neuron disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myositis disease, myotonic dystrophy, myotonic syndrome, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, paraneoplastic syndrome, peripheral nervous system disorder, polyneuropathy, polyradiculoneuropathy, proteostasis deficiencies, spinal cord disorder, spinal muscular atrophy | Enrolling by invitation | Not stated | 2025-09-10 | NCT06605612 |