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Pompe Disease

Gene therapy for Pompe disease effective in mice, poised for human trials

After decades investigating a rare, life-threatening condition that cripples the muscles, researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently available to patients. The therapy uses a modified virus to deliver a gene to the liver where it produces GAA, an enzyme missing in people with Pompe disease. Ref. Source 7r.

Disease Pompe

Study could offer hope to Pompe disease patients. Pompe disease is a rare genetic disorder that disables heart and skeletal muscles and can lead to early death if untreated. The only available treatment for the disease is enzyme replacement therapy that must be injected regularly, sometimes every few days, for life. The treatment can cost hundreds of thousands of dollars a year. Researchers have now developed a method that could make enzyme replacement therapy more efficient, less expensive and less frequent. Source 8j.