Avrobio Developing a Gene Therapy for Pompe Disease

James Radke

Avrobio Inc. announced today that it will be expanding its gene therapy pipeline to include Pompe disease.

This will be the third gene therapy the company has in its pipeline to treat a rare lysosomal storage disease; the other 2 programs are for Fabry disease and Gaucher disease. The company is especially invested in lysosomal storage diseases, as it has a proprietary lysosomal-targeting sequence to deliver high levels of enzyme to lysosomes.

Pompe disease is a rare lysosomal disease that may present in childhood (early-onset) or later in life (late-onset). In either case, the disease is due to a deficiency in the enzyme alpha-glucosidase (GAA). Patients with late-onset Pompe disease will often grow up being able to walk but will begin to lose muscle strength as they age. The more severe cases of early-onset Pompe disease usually presents within a few months of birth. If left untreated, it will lead to heart failure and ultimately death before the patient’s first birthday.

The only currently approved treatment for Pompe disease is the enzyme replacement therapy, Lumizyme (alglucosidase alfa). It is administered intravenously every 2 weeks by a healthcare professional.

The gene therapy being developed by Avrobio would likely require only 1 infusion to essentially cure the patient. The therapy being developed would extract the patient’s own blood, then functional copy of the faulty gene would be added and re-infused.

According to the company, the infusion should eliminate the need for biweekly enzyme replacement therapy.

 “Pompe disease is a serious lysosomal storage disorder with significant unmet need; our gene therapy is designed to deliver therapeutically relevant levels of enzyme to treat these patients,” said Geoff MacKay, Avrobio’s President and Chief Executive Officer. “By combining our state-of-the-art gene therapy platform with our proprietary lysosomal targeting technology, Avrobio is advancing a truly novel solution to treat patients with this debilitating disease.”

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