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Pompe disease

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (4)Treatment guideline (3)Systematic review (20)Phase 3 study (18)Randomized trial (10)Clinical trial (201)Review article (174)Early study (phase 1 or 2) (16)Case report (118)Laboratory or animal research (44)Commentary or editorial (34) Only studies currently recruiting participants (29)

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Publications and studies (1195)

• Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease. (2022/01/01) ♡
• The earliest enzyme replacement for infantile-onset Pompe disease in Japan. (2022/01/01) ♡
• Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. (2022/01/01) ♡
• Infantile-onset Pompe disease in seven Mexican children. (2022/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease (2022-10-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Growth and Development Study of Alglucosidase Alfa (2022-08-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prophylactic Ranibizumab for Exudative Age-related Macular Degeneration (2022-08-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders (2022-08-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease (2022-08-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Specimen Collection From Pompe Disease Patients (2022-05-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment (2022-04-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Immune Tolerance Induction Study (2022-04-07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease (2022-04-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease (2022-03-28) ♡
• Current status of newborn screening for Pompe disease in Japan. (2021/12/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function. (2021/12/13) ♡
• Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study. (2021/12/01) ♡
• Cell type-selective targeted delivery of a recombinant lysosomal enzyme for enzyme therapies. (2021/12/01) ♡
• Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase. (2021/12/01) ♡
• The latest developments in the area of therapeutic delivery excluding some diseases, such as COVID-19 and the big three (HIV/AID, malaria and tuberculosis). (2021/12/01) ♡
• Polymorphism in exercise genes and respiratory function in late-onset Pompe disease. (2021/12/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. (2021/12/01) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. (2021/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. New therapies for Pompe disease: are we closer to a cure? (2021/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Role of visual assessment of chronic obstructive pulmonary disease on chest CT: beauty is in the eye of the beholder. (2021/12/01) ♡
• Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China. (2021/12/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pharmacological Chaperone Therapy for Pompe Disease. (2021/11/29) ♡
• Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience. (2021/11/09) ♡
• Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease. (2021/11/08) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Hepatic expression of GAA results in enhanced enzyme bioavailability in mice and non-human primates. (2021/11/04) ♡
• Phenotypic implications of pathogenic variant types in Pompe disease. (2021/11/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction? (2021/11/01) ♡
• Broad variation in phenotypes for common GAA genotypes in Pompe disease. (2021/11/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. [Fifteen years of enzyme therapy in Pompe disease]. (2021/11/01) ♡
• 50 Years Ago in TheJournalofPediatrics: Logic of Biochemical Discovery in Pompe Disease. (2021/11/01) ♡
• Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease. (2021/10/28) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Neuromuscular Development and Disease: Learning From in vitro and in vivo Models. (2021/10/27) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs. (2021/10/27) ♡
• Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease. (2021/10/26) ♡
• Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes. (2021/10/21) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease. (2021/10/21) ♡
• Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study. (2021/10/18) ♡
• Respiratory Muscle Function Tests and Diaphragm Ultrasound Predict Nocturnal Hypoventilation in Slowly Progressive Myopathies. (2021/10/14) ♡
• Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective. (2021/10/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Complex Transposon Insertion as a Novel Cause of Pompe Disease. (2021/10/08) ♡
• Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries. (2021/10/01) ♡
• Conventional oxygen therapy versus CPAP as a ceiling of care in ward-based patients with COVID-19: a multi-centre cohort evaluation. (2021/10/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Avalglucosidase alfa: First Approval. (2021/10/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Newborn screening of neuromuscular diseases. (2021/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hypertrophic cardiomyopathy in infant newborns of diabetic mother: a heterogeneous condition, the importance of anamnesis, physical examination and follow-up. (2021/09/30) ♡

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