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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)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. (2023-03-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness (2023-03-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. ERT in Pompe Disease: Elucidation of Molecular Structures Contributing to Enzyme Uptake and Immunoreactivity (2023-02-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarker for Pompe Disease (BioPompe) (2023-02-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarker for Glycogen Storage Diseases (BioGlycogen) (2023-02-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Respiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) (2023-01-09) ♡
• 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. Induced pluripotent stem cell for modeling Pompe disease. (2022/12/22) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease. (2022/12/14) ♡
• 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. Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management. (2022/12/13) ♡
• Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice. (2022/12/08) ♡
• In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease. (2022/12/08) ♡
• Survey on the management of Pompe disease in routine clinical practice in Spain. (2022/12/05) ♡
• MRI changes in diaphragmatic motion and curvature in Pompe disease over time. (2022/12/01) ♡
• Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis. (2022/12/01) ♡
• 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. Oral tolerance to prevent anti-drug antibody formation in protein replacement therapies. (2022/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Pompe disease treated before birth. (2022/12/01) ♡
• [Pompe Disease: Extraordinary Measures]. (2022/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pompe Disease Complicated with Appendicular Torsion: A Rare Concurrence. (2022/12/01) ♡
• Dual Staged Supraglottoplasty for the Treatment of Trapdoor Epiglottis with Underlying Neurodegenerative Disease-Case report and Review of literature. (2022/12/01) ♡
• 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. Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders. (2022/11/30) ♡
• Optically pumped magnetometers detect altered maximal muscle activity in neuromuscular disease. (2022/11/29) ♡
• Clinical Decision-Making in Practice with New Critical Care Ultrasound Methods for Assessing Respiratory Function and Haemodynamics in Critically Ill Patients. (2022/11/25) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Prenatal treatment for Pompe's disease. (2022/11/24) ♡
• 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. Infantile Pompe disease with intrauterine onset: a case report and literature review. (2022/11/21) ♡
• 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 Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease. (2022/11/15) ♡
• Screening chimeric GAA variants in preclinical study results in hematopoietic stem cell gene therapy candidate vectors for Pompe disease. (2022/11/03) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Regulatory news: Avalglucosidase alfa-ngpt (Nexviazyme) for late-onset Pompe disease-FDA approval summary. (2022/11/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Chemogenetic activation of hypoglossal motoneurons in a mouse model of Pompe disease. (2022/11/01) ♡
• 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. [Pulmonary phenotypes of inborn errors of metabolism]. (2022/11/01) ♡
• Retrospective analysis of prenatal ultrasound of children with Pompe disease. (2022/11/01) ♡
• Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview. (2022/11/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients. (2022/10/28) ♡
• 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. Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region. (2022/10/27) ♡
• Newborn screening for Pompe disease in Italy: Long-term results and future challenges. (2022/10/22) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. MPS VII - Extending the classical phenotype. (2022/10/20) ♡
• 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. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. (2022/10/17) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-onset Pompe disease with a novel mutation and a rare phenotype: A case report. (2022/10/01) ♡
• 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. Therapeutic thoroughfares for adults living with Pompe disease. (2022/10/01) ♡
• [Rare diseases in the differential diagnosis of myalgia]. (2022/10/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease. (2022/10/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening. (2022/09/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations. (2022/09/28) ♡
• High-risk screening of late-onset Pompe disease: A different early portrait in China. (2022/09/27) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype. (2022/09/27) ♡
• Newborn Screening Is on a Collision Course with Public Health Ethics. (2022/09/26) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy. (2022/09/24) ♡
• 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 of economic evaluations of enzyme replacement therapy in Lysosomal storage diseases. (2022/09/19) ♡
• 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. The Clinical Management of Pompe Disease: A Pediatric Perspective. (2022/09/16) ♡
• Ultrasonography of abdominal muscles: Differential diagnosis of late-onset Pompe disease and myotonic dystrophy type 1. (2022/09/06) ♡
• Essen transition model for neuromuscular diseases. (2022/09/05) ♡

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