Gene Therapy for Pompe Disease has Produced Positive Outcomes in Mouse Models


AVROBIO is based out of Cambridge, Massachusetts. They specialize in single-dose gene therapy as a cure for rare genetic conditions such as cystinosis, Gaucher disease, and Fabry disease. Most recently, they have announced positive preclinical data from a study examining a gene therapy treatment for Pompe disease.

The Study

The therapy is called AVR-RD-03. Researchers have hope that it could correct the manifestations of Pompe disease in the central nervous system and muscle.

In Pompe disease patients, increased levels of glycogen is the result of a GAA mutation. This overproduction of glycogen is toxic to the central nervous system and all muscles in the body. Pompe disease patients face progressive weaknesses, decreased motor function, as well as breathing difficulties.

Specifically, these researchers found that by utilizing Glycosylation-Independent Lysosomal Targeting technology (GILT-tag) lentiviral vectors, the accumulation of glycogen was significantly reduced. This was examined in a mouse model. This team investigated 10 different kinds of vectors, including control vectors. Each vector produced a functional copy of the GAA gene with varying manifestations of the GILT-tag technology.


The use of GILT-tags with the vectors reduced glycogen within the spinal cord and the brain. It was also reduced in the diaphragm, skeletal muscle tissue, and heart.

The most successful vector also reduced the presence of glycogen in the cerebrum, spinal cord, and cardiac muscle to similar levels as mice without Pompe disease.

The average number of the vector copy within the bone marrow was less than 5.

In 4 months after the therapy, no mice experienced AEs in the hematopoietic compartment.

Looking Forward

There is now an Investigational New Drug-enabling proof-of-concept study underway. The team expects to have final results of this investigation by the end of the year.

You can read more about this investigative gene therapy here

Share this post

Share on facebook
Share on google
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email