Identifying regulatory muscle processes in infantile and adult Pompe patients using a multi-omic and morphological approach
Studying muscle changes across different ages of Pompe disease reveals distinct disease processes, pointing toward better targeted treatments.
To better understand the regulation of age-dependent pathways in Pompe disease, we performed a multi-modal approach. Our findings reveal that combining a multi-omic approach, including morphological observations, enables the detection of a greater number of deregulated muscle processes, indicating both similar and distinct muscle processes in IOPD and LOPD.
What the study was
- Study design
- Journal Article
- Population
- Pompe disease is a lysosomal glycogen storage disorder caused by a deficiency of the enzyme acid alp
- Sample size
- 21
- Category
- Drug Development
- Maturity
- Exploratory
- Journal
- Brain pathology (Zurich, Switzerland)
Why it surfaced
moderate relevance to watchlist
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