POMPE DISEASE

Classically defined by the buildup of lysosomal glycogen, Pompe Disease is a genetic disorder that is caused by a mutation in the GAA gene. This gene encodes for the enzyme acid alpha-glucosidase, that is responsible for breaking down lysosomal glycogen. Accumulation of glycogen has a profoundly negative impact on heart and neuromuscular function, but symptoms vary depending on the age at which the disease appears. Pompe disease covers a wide phenotypic spectrum where patients may be diagnosed as infants, adolescents, or adults. Our approach incorporates AAV capsids that carry desired properties to address each disease component and improve the patient’s quality of life.

MUCOPOLYSACCHARIDOSIS TYPE IIIB (MPSIIIB)

Also known as Sanfilippo Syndrome B, is a disorder caused by mutations in the NAGLU gene and is characterized by progressive motor and cognitive deterioration. Our patent-pending strategy uses a proprietary capsid to deliver a functional copy of NAGLU to the cells affected by this disease.

FRIEDREICH’S ATAXIA​ (FRDA OR FA) FA is a rare mitochondrial disorder caused by mutations in the FXN gene and is characterized by ataxia, cardiomyopathy, and diabetes. FA affects 1 in every 40,000 people, with symptoms typically presenting between 5-15 years of age. Our patent-pending therapeutic strategy is designed to deliver an enhanced copy of FXN via a proprietary capsid that displays the desired tropism for the central nervous system and heart.

GLIOBLASTOMA (GBM) Glioblastoma is the most common and aggressive cancer of the brain. Symptoms include loss of cognitive function, numbness in the face, arms, or legs, trouble with balance, nausea, vomiting, and headaches. Current standard treatments exert a large physical and financial toll on patients. Our approach uses select AAV capsid variants with high precision for glioblastoma cells to target key master regulators driving tumorigenesis.