Dwight Koeberl, MD, PhD, of Duke University School of Medicine provides an update on the phase 1 study of gene therapy to treat late-onset Pompe disease.

As Dr. Koeberl explains in this video, the preliminary results in the low-dose cohort show the gene therapy to be safe and that all three patients were able to stop taking enzyme replacement therapy after being treated with gene therapy. The gene therapy, known as ACTUS 101, uses the adeno-associated virus (AAV) that specifically targets the liver to promote the production of acid alpha-glucosidase (GAA), the enzyme that is reduced in Pompe disease patients.

The data was presented at WORLDSymposium, the leading conference for lysosomal storage diseases.

Pompe disease is an inherited lysosomal storage disorder in which mutation in the GAA gene leads reduced levels of the GAA enzyme. The net result is a buildup of glycogen in the body’s cells. The accumulation of glycogen, especially in muscles, can lead to a plethora of problems.

There are 3 types of Pompe disease, classic infantile-onset, non-classic infantile-onset, and late-onset Pompe disease. The gene therapy trial described by Dr. Koeberl involved patients with late-onset disease. The late-onset type of Pompe disease is often not diagnosed until late childhood or adulthood, but once the accumulation of glycogen has damaged the muscles, these people tend to have difficulty walking and breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

To learn more about Pompe disease, visit checkrare.com/pompe.