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Conditions: Glycogen Storage Disease
Interventions: Lingual Muscle Training; Other
Lead sponsor: Duke University; Other
Eligibility: 12 Years and older
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2020
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Pompe Disease
Interventions: BMN 701; Biological
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 13 Years and older
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2016
U.S. locations: 4
States / cities: San Diego, California • Gainesville, Florida • Tampa, Florida + 1 more

Conditions: Pompe Disease
Interventions: ATB200, AT2221; Drug
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: 18 Years to 75 Years
Enrollment: 29 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2024
U.S. locations: 12
States / cities: Phoenix, Arizona • Orange, California • Gainesville, Florida + 9 more

Conditions: Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Glycogenesis 2 Acid Maltase Deficiency
Interventions: Myozyme® (alglucosidase alfa); Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 1 Month and older
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2020
U.S. locations: 4
States / cities: Louisville, Kentucky • Durham, North Carolina • Salt Lake City, Utah + 1 more

Conditions: Pompe Disease
Interventions: Filgrastim; Drug
Lead sponsor: Serhat Gumrukcu, MD PhD; Other
Eligibility: 3 Years to 30 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2023
U.S. locations: 1
States / cities: Toluca Lake, California

Conditions: Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions: Alglucosidase alfa; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Not listed
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2003
U.S. locations: 1
States / cities: New Brunswick, New Jersey

Conditions: Pompe Disease, Glycogen Storage Disease Type II
Interventions: Observation; Other
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: Not listed
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2008
U.S. locations: 4
States / cities: Gainesville, Florida • St Louis, Missouri • Lake Success, New York + 1 more

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: Glycogen Storage Disease VI, GLYCOGEN STORAGE DISEASE IXa1, GLYCOGEN STORAGE DISEASE IXa2, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, GSD 9 (All Subtypes), GSD 6
Interventions: No intervention; Other
Lead sponsor: Duke University; Other
Eligibility: 0 Years to 90 Years
Enrollment: 400 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2030
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Glycogen Storage Disease Type II-Pompe's Disease
Interventions: Avalglucosidase alfa (GZ402666), Alglucosidase alfa (GZ419829); Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 6 Months to 17 Years
Enrollment: 22 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2017 – 2027
U.S. locations: 3
States / cities: Valhalla, New York • Durham, North Carolina • Seattle, Washington

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: 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 (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
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: Pyridostigmine Bromide; Drug
Lead sponsor: University of Florida; Other
Eligibility: 8 Years to 60 Years
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2018
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Pompe Disease
Interventions: Rituximab, Miglustat; Drug
Lead sponsor: University of Florida; Other
Eligibility: Up to 65 Years
Enrollment: 11 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2017
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis, Creutzfeld-Jakob Disease, Cystic Fibrosis, Duchenne Muscular Dystrophy, Early-Onset Alzheimer Disease, Ehlers-Danlos Syndrome, Huntington Disease, Gaucher Disease, GM1 Gangliosidosis, Myasthenia Gravis, Pompe Disease, Sickle Cell Disease, Transthyretin Amyloid Cardiomyopathy, Rare Diseases
Interventions: Not listed
Lead sponsor: xCures; Industry
Eligibility: Not listed
Enrollment: 1,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 1
States / cities: Los Altos, California

Conditions: Glycogen Storage Disease Type II Infantile Onset
Interventions: Cipaglucosidase alfa, Miglustat; Biological · Drug
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: Up to 17 Years
Enrollment: 36 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 6
States / cities: Gainesville, Florida • Atlanta, Georgia • Durham, North Carolina + 3 more

Conditions: Glycogen Storage Disease Type Ia
Interventions: blood glucose meter; blood lactate meter; Device
Lead sponsor: Connecticut Children's Medical Center; Other
Eligibility: 0 Years to 60 Years
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 1
States / cities: Hartford, Connecticut

Conditions: Pompe Disease
Interventions: respiratory muscle strength training; Other
Lead sponsor: Duke University; Other
Eligibility: 3 Years to 99 Years
Enrollment: 11 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2012
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Inflammatory Bowel Disease, Glycogen Storage Disease Type Ia
Interventions: Glycogen Storage Disease type Ia patients; Other
Lead sponsor: University of Florida; Other
Eligibility: Not listed
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2014
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Pompe Disease (Late-onset)
Interventions: Cipaglucosidase Alfa, Miglustat; Biological · Drug
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: 0 Years to 17 Years
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2027
U.S. locations: 9
States / cities: Gainesville, Florida • Jacksonville, Florida • Atlanta, Georgia + 6 more

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 (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Glycogenesis Type II, Acid Maltase Deficiency (AMD)
Interventions: alglucosidase alfa; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 8 Years and older
Enrollment: 81 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2008
U.S. locations: 26
States / cities: Anchorage, Alaska • Phoenix, Arizona • Beverly Hills, California + 23 more

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Lingual Muscle Training in Late-Onset Pompe Disease (LOPD)

Extension Study for Patients Who Have Participated in a BMN 701 Study

First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221

Immune Tolerance Induction Study

Clinical Specimen Collection From Pompe Disease Patients

A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II

A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

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

GSD VI and GSD IX Natural History

A Study to Assess Safety and Efficacy of Avalglucosidase Alfa Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa

Scotoma Reduction in AMD Patients Treated With Ranibizumab

Early Check: Expanded Screening in Newborns

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

Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease

A Pilot Study of Pyridostigmine in Pompe Disease

Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies

FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18

Accuracy of Lactate Meter in GSDIa

The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease

Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease

ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD

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

Late-Onset Treatment Study Extension Protocol