Experimental Treatments for Pompe Disease

Chaperone Therapy

Chaperone therapy for Pompe is intended to restore function to the defective GAA enzyme. This therapy uses small molecules that bind to the dysfunctional GAA enzyme, helping it to fold correctly and ensuring that normal enzyme activity is restored. Chaperone therapies for Pompe disease are currently in various stages of the development process.

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Gene Therapy

Gene therapy is aimed at restoring the body’s ability to produce functional acid alpha-glucosidase enzyme on its own by providing cells with a functioning copy of the GAA gene. There are several research groups investigating gene therapy in Pompe disease. Some of these potential therapies are already being tested in clinical trials, while others are still in the preclinical stage.

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Stimulation of Lysosomal Exocytosis

Researchers recently discovered a network of genes and two transcription factors (proteins that regulate the production of other proteins) that control lysosomes and their function. They found that increased levels of these two transcription factors, TFEB and TFE3, could induce exocytosis by lysosomes. They hypothesized that if a way could be found to stimulate exocytosis in Pompe disease patients, it might reduce the buildup of glycogen inside patients’ cells. This approach is still in the preclinical stage of development.

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Substrate Reduction Therapy

Substrate reduction therapy is an investigational approach for the possible treatment of lysosomal storage disorders, including Pompe disease.It is a small-molecule treatment for lysosomal storage disorders that works to partly block the biosynthesis of big molecules like glycogen to correct the imbalance created by the gap between their formation and their breakdown into smaller molecules like glucose. This type of therapy is still in the preclinical stages of development, but it may move to clinical trials soon.

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