Gene Therapy Receives Rare Pediatric Disease Designation for Sandhoff Disease and Tay-Sachs Disease

According to a story from GlobeNewswire, the gene therapy company Axovant Gene Therapies Ltd. recently announced that its gene therapy AXO-AAV-GM2 has been given Rare Pediatric Disease designation by the US Food and Drug Administration (FDA). This designation is for the treatment for Sandhoff disease and Tay-Sachs disease, two related illnesses that fall under the umbrella of GM2 gangliosidoses. The therapy has also earned Orphan Drug designation and is the first gene therapy ever administered to child patients living with Tay-Sachs disease.

About Tay-Sachs Disease

Tay-Sachs disease is a rare disorder which is characterized by the destruction of the nerve cells found in the brain and spinal cord. Symptoms include an abnormal startle response, a distinct red spot on the retina, loss of movement abilities, paralysis, seizures, deafness, and blindness. Death often occurs before age four. There is a dire need for disease-modifying therapies for this illness. Possible future treatments include gene therapy, enzyme replacement, and substrate reduction therapy. To learn more about Tay-Sachs disease, click here.

About Sandhoff Disease

Sandhoff disease is a rare disorder affecting lipid storage. It is characterized by the progressive destruction of the central nervous system, which is ultimately lethal. The illness is clinically impossible to distinguish from Tay-Sachs disease and the symptoms are effectively identical; they are distinguished from each other by which gene is mutated. These symptoms usually appear in the first few months of life. There are later onset forms that are less severe and are not lethal. There is an urgent need for more effective treatments for Sandhoff disease. Click here to learn more about this illness.

About Rare Pediatric Disease Designation

Rare Pediatric Disease designation is given to therapies being developed to treat rare diseases that mostly impact people age 18 or younger. A rare disease is defined as any illness that affects less than 200,000 people in the US. A drug must display potential advantages in efficacy or safety over current treatments or potentially satisfy a serious unmet medical need in order to qualify. Recipients of this designation may be eligible for a Priority Review voucher if the drug is approved. This voucher can be used on a future application or can be sold to another company. 


AXO-AAV-GM2 is in development as a single-dose gene therapy that is designed to introduce a functional copy of the HEXA gene (which is impacted in Tay-Sachs disease) and the HEXB gene (which is impacted in Sandhoff disease) utilizing co-administered AAVrh8 vectors.

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