Key Takeaway
Glycosylated alpha-dystroglycan was lower than the selected control and stable over 6 to 12 months in the biopsy cohort, supporting biomarker research but not proving treatment benefit or routine clinical use.
Evidence Summary
Quantitative Measurement of Glycosylated Alpha-Dystroglycan as a Biomarker for Disease Severity in LGMD2I/R9
Prospective 12-month observational study of muscle-biopsy glycosylated alpha-dystroglycan measurements in genetically confirmed LGMD2I/R9.
cohortTrial ReadinessMonitoringClinicians
Citation: Vissing J, Mozaffar T, Johnson NE, et al. Quantitative Measurement of Glycosylated Alpha-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9. Neurol Genet. 2026;12(2):e200370.
Main findings
- Ninety-six participants enrolled and 71 had at least one tibialis anterior biopsy available for analysis.
- The study used a validated quantitative western blot assay and compared biopsy measurements with one unaffected control sample.
- Measurements differed by genotype group and remained stable over the observed 6-to-12-month interval.
Practical relevance
- Provides trial-readiness evidence for evaluating a target-linked muscle biomarker in interventional research.
- The record does not establish that changing the biomarker predicts a specific amount of functional benefit.
Limitations and cautions
- The observational study did not test a therapy, and the manuscript lacked correlative clinical-functional data for the biomarker analysis.
- Twenty-five enrolled participants had no biopsy, and sampling variability, short follow-up, protocol deviations, and a single control reference limit interpretation.
- The study was funded by ML Bio Solutions; several authors reported company employment, consulting, trial funding, or other industry relationships.
Primary Sources
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Primary indexed record for the paper summary on this page.
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Full text used to check design, biopsy population, assay, results, funding, disclosures, and limitations.
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