UX111
for MPS
IIIA
UX111 (rebisufligene etisparvovec and formerly ABO-102) gene therapy for the potential treatment of Sanfilippo syndrome (MPS IIIA)
Program overview
Stage: Phase 1/2/3 (pivotal)
Disease: Mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome type A
Prevalence: 3,000 – 5,000 people in commercially accessible geographies
Disease Mechanism: Genetic defect in ability to break down glycosaminoglycans
Symptoms: Rapid neurodevelopmental and physical decline, short life expectancy
Treatment Modality: AAV9 gene therapy
Treatment Mechanism: Deliver SGSH gene to cells of the CNS and peripheral organs
Sanfilippo syndrome type A (MPS IIIA): accumulation of heparan sulfate results in rapid and severe degeneration of central nervous system (CNS)
Sanfilippo syndrome type A (MPS IIIA) is a rare, fatal lysosomal storage disease with no approved treatment that primarily affects the central nervous system (CNS) and is characterized by rapid neurodegeneration, with onset in early childhood. MPS IIIA is estimated to affect approximately 3,000 to 5,000 patients in commercially accessible geographies with a median life expectancy of 15 years.
Children with MPS IIIA present with global developmental delay which eventually leads to progressive language and cognitive decline, behavioral abnormalities, and early death. MPS IIIA is caused by biallelic pathogenic variants in the N-sulfoglucosamine sulfohydrolase (SGSH) gene that lead to a deficiency in the sulfamidase enzyme responsible for breaking down heparan sulfate, a glycosaminoglycans, which accumulate in cells throughout the body resulting in the observed rapid neurodegeneration that is associated with the disorder.
Evaluating UX111 to improve breakdown of glycosaminoglycans
UX111 (rebisufligene etisparvovec and formerly ABO-102) is an investigational novel in vivo gene therapy under evaluation in the ongoing pivotal Transpher A trial in patients with Sanfilippo syndrome type A (MPS IIIA). UX111 is designed to be dosed in a one-time intravenous infusion using a self-complementary AAV9 vector to deliver a functional copy of the SGSH gene to cells. The therapy is designed to address the underlying sulfamidase enzyme deficiency responsible for abnormal accumulation of heparan sulfate, a glycosaminoglycan, in the brain that results in progressive cell damage and neurodegeneration.
The UX111 program has received Regenerative Medicine Advanced Therapy, Fast Track, Rare Pediatric Disease, and Orphan Drug designations in the U.S., and PRIME and Orphan Drug designations in the EU.