Pompe
Two phenotypes. One enzymatic defect. A progressive accumulation of glycogen that silently damages muscle cells.
CYTOO’s MyoScreen™ platform recapitulates the cellular hallmarks of Pompe disease through physiologically relevant human muscle models, enabling sensitive, high-throughput evaluation of therapeutic approaches, from enzyme replacement to next-generation gene and substrate reduction therapies.
CYTOO's approach
At CYTOO, our MyoScreen™ platform leverages physiologically relevant micropatterned muscle cultures derived from human primary donor cells to recapitulate key pathological features of Pompe disease.
Using this model, high-content imaging combined with AI-driven analysis enables sensitive detection of glycogen and lysosome accumulation, impaired autophagy, mitochondrial alterations, and associated structural and functional muscle phenotypes.
These readouts support the evaluation of emerging therapeutic approaches. The platform also enables discrimination between infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) based on distinct cellular and morphological signatures.
Overall, CYTOO’s technologies provide an integrated, end-to-end platform supporting Pompe disease drug development.
3-fold increase in glycogen levels in IOPD, correlating with Pompe disease severity
About POMPE DISEASE
Pompe disease is a rare genetic disorder affecting ~1 in 19,000 individuals worldwide. It is caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase, leading to the accumulation of glycogen within cells. This build-up causes irreversible cell damage in tissues throughout the body and particularly in muscle. Two main clinical phenotypes are recognized based on onset and residual enzyme activity: severe Infantile-Onset (IOPD), with symptoms before 12 months and <1% enzyme activity, and a milder, more progressive Late-Onset (LOPD), beginning after 12 months with residual enzyme activity ranging from 1–40%.
Explore our catalog of characterized donors and readouts
How can we work together
Everything is tailored to your needs through a flexible R&D partnership model that fosters true collaboration and innovation. We offer adaptable project structures and FTE allocation to fit your goals.