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.
