First Look: Scientists ready to test gene therapy for Pompe disease


ith a final preclinical study now published, a gene therapy designed by Duke University researchers to improve treatment for the genetic disorder Pompe disease is set to enter a Phase 1 clinical trial. Now, the researchers need to raise the money to fund the trial.

Patients with Pompe disease, which affects infants and can also emerge later in life, lack or have too little of an enzyme called acid alpha-glucosidase, or GAA. GAA helps break down glycogen into fuel for cells, so without GAA, the buildup of glycogen damages muscles and leads to respiratory and heart problems.



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