Pompe diseaseNews & Research
14 curated articles for Pompe disease — FDA updates, peer-reviewed research, clinical-trial milestones, and sponsor press releases. Sorted newest-first.
- Zhonghua er ke za zhi = Chinese journal of pediatrics May 14, 2026
[Clinical and genetic characteristics of infantile-onset Pompe disease​ and long-term efficacy of enzyme replacement therapy].
Objective: To analyze the clinical and genetic characteristics of infantile-onset Pompe disease (IOPD) and evaluate the long-term efficacy of enzyme replacement therapy (ERT). Methods: A retrospective cohort study was conducted on 24 IOPD patients diagnosed and treated at the Children's Hospital, Zh...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Muscle & nerve May 11, 2026
Myotonia: Recognition, Evaluation, and Differential Diagnosis.
Myotonia is a non-neurotypical muscle physiology of sarcolemmal hyperexcitability due to alterations in the structure and/or function of ion channels in the muscle cell membrane. This hyperexcitability can be observed electrically as spontaneous myotonic discharges during needle electromyography. My...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Journal of neuroengineering and rehabilitation May 6, 2026
Gait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe disease.
Late-onset Pompe disease (LOPD) presents with progressive muscle weakness, often leading to functional impairment that is challenging to monitor with conventional assessments. This study aims to develop and validate novel gait-based outcome measures for monitoring disease progression in individuals ...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- International journal of molecular sciences May 4, 2026
Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.
Pompe disease (PD) is a neuromuscular autosomal recessive disorder caused by mutation in the GAA gene, which encodes acid α-glucosidase (GAA), an enzyme responsible for hydrolyzing glycogen to glucose. Deficiency of this enzyme leads to pathological accumulation of glycogen in almost all tissu...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Molecular metabolism May 2, 2026
Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms.
Inter-organ cross-talk is increasingly recognised as a fundamental determinant in the pathogenesis of neurodegenerative and neuromuscular disorders, modulating neuroinflammation, protein misfolding, and cellular dysfunction through systemic mediators such as cytokines, adipokines, and growth factors...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Cellular and molecular life sciences : CMLS Apr 6, 2026
Identification of alterations of immunometabolism associated with Pompe disease.
Pompe disease (PD) is a neuromuscular lysosomal storage disorder caused by mutations in the GAA gene, characterized by progressive glycogen accumulation in multiple tissues and autophagy and metabolic abnormalities. While immunological changes have largely been overlooked as part of PD's symptomatol...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Disease models & mechanisms Mar 18, 2026
Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease.
Pompe disease (PD) is a rare autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, leading to lysosomal glycogen accumulation. Pathogenic GAA variants result in enzyme dysfunction and glycogen storage in cardiac, skeletal and smooth muscle, as well as in the central nervo...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Molecular genetics and metabolism Mar 12, 2026
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Late-onset Pompe disease (LOPD) is a lysosomal disease characterized by progressive weakness primarily in skeletal and respiratory muscles with symptom onset ranging from infancy to adulthood. The distinguishing feature between infantile-onset Pompe disease (IOPD) and LOPD is the absence of cardiomy...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- QJM : monthly journal of the Association of Physicians Mar 8, 2026
Early-Onset Pompe Disease: an Imaging Spectrum.
Early-Onset Pompe Disease: an Imaging Spectrum.
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Neuromuscular disorders : NMD Mar 7, 2026
Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.
Late-onset Pompe disease (LOPD) is a progressive metabolic myopathy caused by acid α-glucosidase deficiency, leading to glycogen accumulation in skeletal muscle. Reliable biomarkers for monitoring disease progression and treatment response are lacking. Urinary glucose tetrasaccharide (Glc4), a...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Journal of clinical neuromuscular disease Mar 7, 2026
What Is in the Myopathy Literature?
This update begins with a discussion of treatable lipid storage myopathies associated with the use of sertraline and ranolazine. We then turn to monoclonal gammopathy-associated myopathies including a more recently identified disorder that is also treatment-responsive, monoclonal gammopathy-associat...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Translational research : the journal of laboratory and clinical medicine Mar 7, 2026
Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI.
Pompe disease is a glycogen storage disease caused by the impaired breakdown of glycogen in lysosomes, leading to abnormal glycogen accumulation in tissue. Here we use glycogen nuclear Overhauser effect (glycoNOE) MRI to detect glycogen levels in skeletal muscle in a mouse model of Pompe disease. Mo...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Neurologia Mar 6, 2026
Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.
Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a progressive accumulation of intralysosomal glycogen occurs in various tissues, causing smooth, cardiac...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
- Molecular genetics and metabolism Mar 5, 2026
Novel promoters drive therapeutic transgene expression and evade transgene-specific immune responses in a mouse model of Pompe disease.
Systemically administered gene therapy is under development for the treatment of Pompe disease, an inherited lysosomal storage disorder caused by acid alpha-glucosidase (GAA) deficiency. We evaluated recombinant AAV9 vectors expressing GAA driven by the minimal G6PC promoter (AAV9-G6PC.GAA) and by a...
Why it matters: Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
More on Pompe disease
Articles aggregated from peer-reviewed journals (PubMed), sponsor press releases, SEC 8-K filings, and FDA announcements. Original-source links are preserved on each article page. Editorial tags (Breaking / Notable / Update) reflect UniteRare's curation-time priority assessment.