Pompe Disease

Pompe Disease

by cathyy smith -
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Animal models are a valuable tool for studying Pompe's disease pathophysiology and testing potential treatments. Our company is committed to providing our clients with appropriate animal models for studying this disease. Our custom animal models are designed to mimic the genetic mutations that cause human Pompe's disease, allowing researchers to study the progression of the disease and test potential treatments. These models can be customized to include specific mutations or genetic backgrounds, providing greater flexibility for preclinical studies.


Pompe's disease (also known as glycogen storage disease type II) is caused by mutations in the enzyme encoding the lysosomal enzyme alpha-glucosidase (GAA), resulting in glycogen accumulation in muscles and other organs. The clinical manifestations of Pompe's disease range from mild forms that appear in adulthood to severe forms that appear in infancy and can be fatal. The severity of the disease is related to the amount of residual enzyme activity.

Despite the low incidence, Pompe's disease requires extensive research into pathophysiology. Therefore, the availability of animal models simulating the disease is essential. To date, a variety of naturally occurring animal models of Pompe's disease has been identified, including Brahman cattle and Shorthorn cattle, Lapland dogs, cats, and sheep. In addition, researchers have developed a variety of laboratory animal models that are more suitable for studying Pompe's disease, such as mouse models and rat models. The development of these models has facilitated the design and evaluation of new therapeutic strategies.

Learn more:animal models of pompe's disease