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Conditions: Pompe Disease (Infantile-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenosis 2, Acid Maltase Deficiency
Interventions: alglucosidase alfa; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Up to 12 Months
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 14
States / cities: Little Rock, Arkansas • Oakland, California • Gainsville, Florida + 11 more

Conditions: Pompe Disease, Muscle Weakness
Interventions: Resistance Exercise Training; Other
Lead sponsor: University of California, Irvine; Other
Eligibility: 16 Years to 75 Years
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2019
U.S. locations: 1
States / cities: Irvine, California

Conditions: Glycogen Storage Disease Type II
Interventions: Alglucosidase alfa GZ419829; Drug
Lead sponsor: Sanofi; Industry
Eligibility: 0 Days to 6 Months
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2026
U.S. locations: 5
States / cities: Hawthorne, New York • Durham, North Carolina • Cincinnati, Ohio + 2 more

Conditions: Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
Interventions: Confirmatory Testing; Diagnostic Test
Lead sponsor: RTI International; Other
Eligibility: 1 Day to 31 Days
Enrollment: 30,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2026
U.S. locations: 1
States / cities: Research Triangle Park, North Carolina

Conditions: Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease
Interventions: alglucosidase alfa; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Up to 24 Months
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2021
U.S. locations: 3
States / cities: Gainesville, Florida • Decatur, Georgia • Detroit, Michigan

Conditions: Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, LOPD, Lysosomal Storage Diseases, Acid Maltase Deficiency
Interventions: Neutralizing Antibody to SPK-3006 capsid; Diagnostic Test
Lead sponsor: Spark Therapeutics, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 61 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2020
U.S. locations: 6
States / cities: Phoenix, Arizona • Orange, California • Kansas City, Kansas + 3 more

Conditions: Late-onset Pompe Disease
Interventions: Respiratory muscle strength measurements by different techniques.; Procedure
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 18 Years and older
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2016
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
Interventions: Alglucosidase Alfa; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years and older
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2013
U.S. locations: 9
States / cities: Orange, California • Gainesville, Florida • Kansas City, Kansas + 6 more

Conditions: Macular Degeneration
Interventions: intravitreal injection Lucentis (ranibizumab); Drug
Lead sponsor: Retina Research Foundation; Other
Eligibility: 50 Years to 90 Years
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007
U.S. locations: 1
States / cities: Slingerlands, New York

Conditions: Pompe Disease
Interventions: duvoglustat, rhGAA; Drug
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: 18 Years to 65 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2013
U.S. locations: 11
States / cities: Phoenix, Arizona • Scottsdale, Arizona • Orange, California + 8 more

Conditions: Lysosomal Storage Disorders
Interventions: Not listed
Lead sponsor: O & O Alpan LLC; Other
Eligibility: 1 Day to 100 Years
Enrollment: 80 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2013 – 2022
U.S. locations: 1
States / cities: Fairfax, Virginia

Conditions: Pompe Disease
Interventions: Muscle ultrasound, Electrical Impedance Myography; Device · Other
Lead sponsor: Duke University; Other
Eligibility: 18 Years and older
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2020
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease
Interventions: There is no intervention; Other
Lead sponsor: University of California, San Francisco; Other
Eligibility: Up to 64 Years
Enrollment: 250 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2050
U.S. locations: 1
States / cities: San Francisco, California

Conditions: Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions: alglucosidase alfa, Placebo; Biological · Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 8 Years and older
Enrollment: 90 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2007
U.S. locations: 5
States / cities: Beverly Hills, California • Washington D.C., District of Columbia • St Louis, Missouri + 2 more

Conditions: Pompe Disease, Glycogen Storage Disease II
Interventions: Not listed
Lead sponsor: Duke University; Other
Eligibility: 6 Years to 18 Years
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2021
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Pompe Disease
Interventions: Cipaglucosidase alfa, Miglustat, Alglucosidase alfa or Avalglucosidase alfa, Untreated; Biological · Drug · Other
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: Not listed
Enrollment: 500 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2034
U.S. locations: 15
States / cities: Little Rock, Arkansas • Irvine, California • Jacksonville, Florida + 10 more

Conditions: MPS I, MPS II, MPS IVA, MPS VI, Mps VII, Gaucher Disease, Type 2, Gaucher Disease, Type 3, Pompe Disease Infantile-Onset, Wolman Disease
Interventions: Aldurazyme (laronidase); Drug
Lead sponsor: University of California, San Francisco; Other
Eligibility: 18 Years to 50 Years · Female only
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2032
U.S. locations: 1
States / cities: San Francisco, California

Conditions: Pompe Disease
Interventions: Thoracic MRI, Spirometry, Inspiratory Load Compensation, Maximal Inspiratory Pressure, Resting Breathing Pattern, Respiratory Muscle Endurance Test; Other
Lead sponsor: University of Florida; Other
Eligibility: 20 Years to 65 Years
Enrollment: 14 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2016
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Pompe Disease
Interventions: VAL-1221, RhGAA; Drug
Lead sponsor: Valerion Therapeutics, LLC; Industry
Eligibility: 18 Years and older
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2020
U.S. locations: 2
States / cities: Orange, California • Durham, North Carolina

Conditions: Pompe Disease
Interventions: Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase, Rapamycin, saline, Rituxan, Diphenhydramine, Acetaminophen, Lidocaine, LMX 4 Topical Cream; Genetic · Drug · Other
Lead sponsor: University of Florida; Other
Eligibility: 18 Years to 50 Years
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2021
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Pompe Disease, Glycogen Storage Disease Type II (GSD II), Acid Maltase Deficiency
Interventions: GZ402666; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years and older
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2015
U.S. locations: 7
States / cities: Phoenix, Arizona • Jacksonville, Florida • Kansas City, Kansas + 4 more

Conditions: Glycogen Storage Disease, Pompe Disease
Interventions: alglucosidase alfa; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Female only
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2024
U.S. locations: 2
States / cities: Cambridge, Massachusetts • Grand Rapids, Michigan

Conditions: Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Interventions: alglucosidase alfa; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Not listed
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2020
U.S. locations: 4
States / cities: Valhalla, New York • Cincinnati, Ohio • Salt Lake City, Utah + 1 more

Conditions: Pompe Disease (Late-onset)
Interventions: Not listed
Lead sponsor: Duke University; Other
Eligibility: 18 Years and older
Enrollment: 19 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2019
U.S. locations: 1
States / cities: Durham, North Carolina

Search by objective public record fields.

A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease

Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.

A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)

Early Check: Expanded Screening in Newborns

Growth and Development Study of Alglucosidase Alfa

Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

A Study of Respiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)

Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa

Scotoma Reduction in AMD Patients Treated With Ranibizumab

Drug-drug Interaction Study

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

Pompe Disease QMUS and EIM

Registry of Patients Diagnosed With Lysosomal Storage Diseases

A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease

Pompe Telemedicine Developmental Study

A Global Prospective Observational Registry of Patients With Pompe Disease

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease

VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease

Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease

Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.

Pompe Lactation Sub-Registry

Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease

Pompe Gene Therapy- Screening for Eligibility