RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
Updates are delayed or unverified. Check original sources for the latest information.
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Pompe Disease: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Sensitivity to change and meaningful difference threshold of the quick motor function test in late onset Pompe disease
Nicole M. Armstrong et al., Orphanet Journal of Rare Diseases (8 October 2026)
https://doi.org/10.1186/s13023-026-04649-z
- 2.
Evaluation of Pompe Disease from a Broad and Systemic Perspective
Aliye Gülbahçe et al., Journal of Clinical Practice and Research (8 October 2026)
https://doi.org/10.14744/cpr.2026.24232
- 3.
Identifying regulatory muscle processes in infantile and adult Pompe patients using a multi-omic and morphological approach.
Schaiter Alexander et al., Brain pathology (Zurich, Switzerland) (7 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42843417/
- 4.
Real-world outcomes after switching to cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a case series
Myriam G. Boueri et al., Orphanet Journal of Rare Diseases (3 October 2026)
https://doi.org/10.1186/s13023-026-04627-5
- 5.
Generation and characterization of a human iPSC line (XACHi022-A) derived from an asymptomatic carrier of the GAA c.2051C > A (p.P684Q) variant.
Zhou Yafei et al., Stem cell research (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42832899/
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
NCT06150820 · Active (not recruiting) · Astellas Gene Therapies
Ages 16 to 69
https://clinicaltrials.gov/study/NCT06150820
- 2.
ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD
NCT03911505 · Active (not recruiting) · Phase 3 · Amicus Therapeutics
Ages 0 to 17
https://clinicaltrials.gov/study/NCT03911505
- 3.
A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With Late-Onset Pompe Disease (LOPD)
NCT04138277 · Completed · Phase 3 · Amicus Therapeutics
Ages 18 and over
https://clinicaltrials.gov/study/NCT04138277
- 4.
A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease
NCT03729362 · Completed · Phase 3 · Amicus Therapeutics
Ages 18 and over
https://clinicaltrials.gov/study/NCT03729362
- 5.
Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease
NCT02782741 · Completed · Phase 3 · Genzyme, a Sanofi Company
Ages 3 and over
https://clinicaltrials.gov/study/NCT02782741
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.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Abstract Background The Quick Motor Function Test (QMFT), a 16-item observer-rated scale, assesses motor function in Pompe disease. This study evaluated QMFT’s sensitivity to detect clinical changes and estimated its thresholds for a meaningful difference. Methods Using blinded data from the COMET trial (NCT02782741; registration date: May 25, 2016) in late-onset Pompe disease, we analyzed QMFT’s sensitivity to change from baseline to Week 49. Spearman and polyserial correlations of changes between QMFT and clinical outcome assessments (COAs) were examined, with 95% confidence intervals estimated by bootstrap resampling. Using Kruskal-Wallis analysis, we examined the distribution of QMFT total score changes across three response groups (Improvement, No Change, Worsening) based on other collected and theoretically related COAs as external anchors. Meaningful difference was determined through both anchor-based approaches (using correlations ≥ 0.371) and distribution-based methods, including standard error of measurement (SEM), 0.5 standard deviation (SD), and minimal detectable change (MDC). Results QMFT demonstrated sensitivity to change. Correlations between QMFT and other COAs ranged from |0.14| to |0.39|. Changes in QMFT followed expected patterns among the three response groups. For patients showing any improvement on COAs, anchor-based meaningful difference in QMFT ranged from 4.0 to 8.0 points. Distribution-based estimates yielded similar thresholds for QMFT of 3.9 points (SEM), 5.2 points (0.5SD), and 10.9 points (MDC). Conclusions This study evaluated the QMFT sensitivity to change and defined meaningful difference at which a patient perceives an improvement in their well-being. These data can inform interpretation of QMFT changes in clinical and research setting.
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 91 clinical trials for Pompe Disease, of which 10 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Pompe Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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