Pompe disease is a hereditary genetic disease that causes deficiency of an enzyme – acid alpha-glucosidase – which affects the heart and leads to muscle weakness and breathing difficulties.
Pompe disease
| Preclinical | Phase I/II | Pivotal Phase | Approval |
Genethon developed the gene therapy product and contributed to its preclinical development.
What is Pompe disease?
Pompe disease is a hereditary genetic disorder caused by a deficiency of acid alpha-glucosidase leading to build-up of glycogen in the lysosomes, which then causes cell damage in various tissues, in particular the heart, the muscles, the liver and the nervous system. In newborns with a serious form of the disease, the cardiac muscle is often affected; this is the main cause of death. In patients with a late-onset form, the respiratory system and mobility are generally the most affected by the disease, often requiring the use of a wheelchair and respiratory assistance, and life expectancy can be reduced.
Enzyme replacement therapy (ERT) is available for Pompe disease, but its effectiveness is limited and immunogenicity is high especially in the infant form of the disease, since the body’s defenses gradually neutralize this molecule as the therapy is administered. As a result, this approach cannot fully correct the pathological build-up of glycogen in the nerve tissues and the skeletal muscles.
Pompe disease: Genethon’s role
Genethon has developed a gene therapy product to correct the build-up of glycogen in the muscle and the central nervous system, and to improve cardiac hypertrophy as well as muscular and respiratory malfunction in a mouse model of the disease.
Pompe disease: what’s happening today ?
In January 2026, Genethon entered into an exclusive, worldwide licensing agreement with AskBio, a gene therapy company wholly owned and independently operated as a subsidiary of Bayer AG, for the use of a patented component of AB-1009 for the treatment of Pompe disease.
This component of AB-1009 originates from pioneering research conducted by Genethon’s Immunology and Liver Diseases team, led by Giuseppe Ronzitti. Genethon developed and demonstrated the preclinical efficacy of a gene therapy approach using a transgene encoding a truncated form of acid alpha-glucosidase (GAA). In animal models, this approach corrected glycogen accumulation in muscle and the central nervous system and led to improvements in cardiac hypertrophy as well as muscular and respiratory dysfunction.
This component of AB-1009, protected by patents held by Genethon and other French institutions, has now been licensed to AskBiofor the development of a gene therapy product for the treatment of Pompe disease.
