Pompe Disease — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Detection of Altered Muscle Glycogen- and NOE-Weighted CEST MRI Signals in an Acid Alpha-Glucosidase-Deficient Mouse Model of Pompe Disease Using QUASS-Enhanced Multi-Pool Quantitative CEST (QCEST) Imaging.
Wu Limin et al. — Magnetic resonance in medicine (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42076810/
- 2.
Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.
Fuller David D et al. — Molecular therapy : the journal of the American Society of Gene Therapy (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42385696/
- 3.
Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late-Onset Pompe Patients.
van den Dorpel Jan J A et al. — Journal of inherited metabolic disease (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42219246/
- 4.
Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada.
Jewett Gordon et al. — Journal of neuromuscular diseases (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/41117436/
- 5.
Bayesian multivariate linear mixed-effects models with varied association structures.
Lika Aglina et al. — Statistical methods in medical research (30 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42377058/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Pompe Pregnancy Sub-Registry
Recruiting — Genzyme, a Sanofi Company
https://clinicaltrials.gov/study/NCT00567073
- 2.
Pompe Disease Registry Protocol
Recruiting — Genzyme, a Sanofi Company
https://clinicaltrials.gov/study/NCT00231400
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Pompe Disease
Pompe disease is a rare genetic condition where glycogen builds up in cells because of a missing enzyme, causing progressive muscle weakness affecting the heart, limbs, and breathing. Enzyme replacement therapy has transformed outcomes, particularly for infants diagnosed through newborn screening.
Most Recent Research
PURPOSE: Chemical exchange saturation transfer (CEST) MRI is a non-invasive imaging technique that detects dilute labile protons with enhanced sensitivity, aiding in the assessment of tissue properties. This study aimed to evaluate the diagnostic usefulness of CEST MRI in acid alpha-glucosidase knockout (GAAKO) mice, a model of Pompe disease characterized by lysosomal glycogen accumulation in muscles. METHODS: We conducted multiparametric MRI at a 7 T Bruker MRI scanner, including T1 and T2 relaxation mapping and densely sampled CEST Z-spectral acquisition, on adult GAAKO and wild-type control mice. Multi-pool CEST signals were obtained from spinlock model-based fitting of the quasi-steady-state reconstructed Z-spectrum. Using the gold-standard muscle glycogen assay as a biomarker of disease burden, we analyzed the correlation between relaxation and CEST signals and tissue glycogen levels. RESULTS: Biochemical glycogen assays of excised muscle samples confirmed significantly elevated glycogen levels in GAAKO mice (556 ± 125 mg/kg) compared to wild-type controls (60 ± 22 mg/kg). Among MRI-derived parameters, glycogen and near-resonance nuclear Overhauser enhancement (NOE) signals showed significant differences between control and GAAKO mice. Importantly, glycogen-weighted CEST (R2 = 0.45, p < 0.0001) and NOE signal at -1.2 ppm (R2 = 0.57, p < 0.0001) demonstrated significant correlations with glycogen assay measurement. CONCLUSION: Multi-pool CEST MRI metrics show potential for characterizing muscle pathology in GAAKO mice. These findings support using CEST MRI to monitor tissue glycogen levels non-invasively.
Common Questions
What is Pompe Disease?
Pompe disease is a rare genetic condition where glycogen builds up in cells because of a missing enzyme, causing progressive muscle weakness affecting the heart, limbs, and breathing. Enzyme replacement therapy has transformed outcomes, particularly for infants diagnosed through newborn screening.
How many clinical trials are available for Pompe Disease?
RareWays currently indexes 108 clinical trials for Pompe Disease, of which 22 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Pompe Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.