Discussion
Experimental Treatments for Pompe Disease
Overview
Several experimental therapies for Pompe disease are in various stages of development. Some focus on alleviating symptoms, while others aim to address the disease’s underlying causes.
AT845
AT845 is an experimental gene therapy being investigated for Pompe disease. It is designed to restore the body’s ability to produce a working version of the enzyme acid alpha-glucosidase (GAA), which is lacking in Pompe. In restoring GAA levels, AT845 may be able to improve motor function and prevent respiratory failure in Pompe patients.
Gene therapy
Gene therapy is being investigated for a range of disorders with a known genetic cause, including Pompe disease.
rAAV1-CMV-hGAA
rAAV1-CMV-hGAA is an experimental gene therapy being investigated as a potential treatment for Pompe disease patients with severe respiratory problems. It is designed to deliver a working version of the GAA gene, which is mutated in Pompe, to cells in the diaphragm. This is expected to improve breathing function.
rAAV9-DES-hGAA
An experimental gene therapy, meaning it replaces a faulty gene with a healthy one, rAAV9-DES-hGAA has been tested in clinical trials as a treatment for Pompe disease.
Stimulation of Lysosomal Exocytosis
Pompe disease, a lysosomal storage disorder, may one day be treated by stimulating a process called lysosomal exocytosis to avoid glycogen buildup in cells.
Substrate reduction therapy
Substrate reduction therapy is currently being investigated for Pompe disease as an alternative to enzyme replacement therapy. It generally works by targeting the activity or production of an enzyme responsible for making glycogen, a complex sugar molecule, in muscle cells.
