Experimental Gene Therapy for GM1 Gangliosidosis Earns Rare Pediatric Disease Designation

According to a story from BioSpace, the gene therapy company Axovant Gene Therapies Ltd. recently announced that it has been given Rare Pediatric Disease designation from the US Food and Drug Administration (FDA). This designation was for the company’s investigational gene therapy AXO-AAV-GM1, which is being developed to treat the rare disease GM1 gangliosidosis. It is the sole gene therapy currently in development to treat both the infantile and juvenile-onset forms of the illness.

About GM1 Gangliosidosis

GM1 gangliosidosis is a group of inherited sphingolipidoses which are characterized by progressive damage to the nervous system along with other, severe effects. This is the result of abnormal lipid storage in cells, which is linked to a deficiency of beta-galactosidase. The disease is caused by mutations affecting the GLB1 gene. There are three different forms which are distinguished by when symptoms appear. Symptoms include neurodegeneration, seizures, muscle weakness, skeletal abnormalities, coarse facial features, enlarged liver and spleen, gait abnormalities, exaggerated startle response, joint stiffness, speech problems, dementia, and dystonia. There are no disease modifying therapies for GM1 gangliosidosis; in the most severe, infantile-onset form, patients rarely survive for more than a few years. In all cases, life span is significantly affected. There is an urgent need for more effective treatments. To learn more about GM1 gangliosidosis, click here.

About Rare Pediatric Disease Designation

Rare Pediatric Disease designation is generally reserved for treatments that are being developed to treat diseases that are considered rare and primarily impact people age 18 or younger. A disease is considered rare if it affects less than 200,000 people in the US. Generally, drugs being developed for severe, life-limiting or life threatening diseases may be eligible. The recipient company receives a Priority Review voucher that it can use on a future application. Alternatively, it can be sold to another drug company.


AXO-AAV-GM1 is being developed as a single-dose gene therapy for the treatment of GM1 gangliosidosis and has earned Orphan Drug designation as well as Rare Pediatric Disease designation. It is designed to deliver a fully functioning copy of the GLB1 gene using an AAV vector. The therapy is being designed for intravenous delivery, which allows for the potential to address a diverse array of systemic effects. AXO-AAV-GM1 has shown promise in preclinical cat and mouse models of GM1 gangliosidosis. 

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