Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease

Pompe disease

Avalglucosidase Alfa Pregnancy Study ERT in Pompe Disease: Elucidation of Molecular Structures Contributing to Enzyme Uptake and Immunoreactivity Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase) Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia – Data From the Reference Center (CERCA) MSOT in Pompe Disease A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting Efficacy and Safety of GSK3196165 Versus Placebo and Tofacitinib in Participants With Moderately to Severely Active Rheumatoid Arthritis Who Have an Inadequate Response to Methotrexate Higher Dose of Alglucosidase Alpha for Pompe Disease High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases Clinical Study for IOPD Participants Less Than or Equal to 6 Months of Age to Evaluate Efficacy and Safety of Enzyme Replacement Therapy (ERT) With Avalglucosidase Alfa Rosella: A Study to Evaluate the Safety, PK, Efficacy, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen Cognitive and Neurological Pathologies in Pompe Disease Clinical Specimen Collection From Pompe Disease Patients Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT Genetic and Family Studies of Inherited Muscle Diseases Growth and Development Study of Alglucosidase Alfa. A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) Extension Study for Patients Who Have Participated in a BMN 701 Study Late-Onset Treatment Study Extension Protocol Alglucosidase Alfa Temporary Access Program Drug-drug Interaction Study A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices Immune Tolerance Induction Study Expanded Access for ATB200/AT2221 for the Treatment of Pompe Disease Respiratory Muscle Training in L-Onset Pompe Disease (LOPD) Lingual Muscle Training in Late-Onset Pompe Disease (LOPD) Alglucosidase Alfa Pompe Safety Sub-Registry High Dose or High Dose Frequency Study of Alglucosidase Alfa Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment AAV2/8-LSPhGAA in Late-Onset Pompe Disease High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease Diet and Exercise in Pompe Disease Pompe Telemedicine Developmental Study Prevalence of Heterozygote Mothers for Pompe’s Disease Among Mothers Having Delivered in French Guiana rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease) Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease A Prospective, Observational Study in Patients With Late-Onset Pompe Disease Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602 Natural History of Pompe Disease Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis Extension Study of Long-term Safety and Efficacy of Myozyme for a Single Patient With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored ERT Studies. Pompe Disease QMUS and EIM Immune Modulation Therapy for Pompe Disease Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease Pompe Lactation Sub-Registry A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease CPAP for Infantile Pompe Disease A Long-term Study for the Outcome of Pompe Disease A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme® Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Muscle Response to Enzyme Replacement Therapy in Pompe Disease Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Pompe Pregnancy Sub-Registry A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease A Study of rhGAA in Patients With Late-Onset Pompe Disease Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study) Safety and Efficacy of Albuterol in Individuals With Late-onset Pompe Disease A Long Term Follow up Study in Late-onset Pompe Disease A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease Pompe Disease Registry Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease Search for Serum/Plasma Biomarkers in Pompe’s Disease A Pilot Study of Pyridostigmine in Pompe Disease Response to Diaphragmatic Pacing in Subjects With Pompe Disease Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI Newborn Screening Assay of Pompe’s Disease The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease Pregnancy and Birth Outcome in Women With Pompe Disease Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Developing a Management Approach for Patients With “Late-Onset” Pompe Disease Feasability and Interest of Screening for Infantile Pompe’s Diseases at Birth Frequency of Pompe’s Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness Prevalence of Pompe’s Disease in Respiratory Clinics