Axovant Gene Therapies Ltd. (NASDAQ:AXGT), a clinical-stage company developing innovative gene therapies for neurological diseases, today announced that it has received Rare Pediatric Disease Designation from the U.S. Food and Drug Administration (FDA) for AXO-AAV-GM2, a one-time gene therapy delivered directly to the central nervous system that is in development for GM2 gangliosidosis, also known as Tay-Sachs and Sandhoff disease. In addition to the Rare Pediatric Disease designation, AXO-AAV-GM2 has Orphan Drug Designation (ODD) and is the first gene therapy that has been administered to children with Tay-Sachs disease.
“We are thrilled to bring AXO-AAV-GM2 one step closer to patients in need through this Rare Pediatric Disease designation. AXO-AAV-GM2 has the potential to be the first treatment approved for Tay-Sachs and Sandhoff disease, rare and fatal pediatric diseases with no current treatment options,” said Sean O’Bryan, Senior Vice President, Regulatory Affairs & Quality.
Axovant expects to evaluate AXO-AAV-GM2 in a registrational clinical trial which consists of a Stage 1 dose-ranging study and a Stage 2 efficacy study. Previously, Axovant reported the first evidence for potential disease modification in Tay-Sachs disease from an expanded access study administering investigational AXO-AAV-GM2 gene therapy in two patients with infantile (Type I) Tay-Sachs disease. AXO-AAV-GM2 was successfully administered in both patients and has been generally well-tolerated to date, with no serious adverse events or clinically relevant laboratory abnormalities related to therapy.
GM2 gangliosidosis, also known as Tay-Sachs and Sandhoff disease, is a rare and fatal pediatric neurodegenerative lysosomal storage disorder (LSD) resulting from deficiencies in beta-hexosaminidase, a key enzyme in the lysosome. These genetic defects lead to the toxic accumulation of gangliosides, resulting in neurodegeneration and life expectancy shortened to just two to four years of age.
The FDA defines a rare pediatric disease as a serious or life-threatening disease in which the disease manifestations primarily affect individuals aged from birth to 18 years. Pediatric diseases recognized as “rare” affect under 200,000 people in the United States.