for MPS

UX111 (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 our territories
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 and fatal lysosomal storage disease with no approved treatment characterized by severe central nervous system degeneration and mild somatic disease with rapid neurodevelopmental and physical decline, often by age three. MPS IIIA has a global incidence of one in 100,000 with a median life expectancy of 15 years.

Children with MPS IIIA present with progressive language and cognitive decline, behavioral abnormalities, and some somatic features (claw hand, visceromegaly, corneal clouding and skeletal changes). MPS IIIA is caused by mutations to the N-sulfoglucosamine sulfohydrolase (SGSH) gene that lead to a deficiency in the enzyme sulfamidase, one of several enzymes involved in the lysosomal degradation of the glycosaminoglycan heparan sulfate, which accumulates in cells throughout the body resulting in rapid health decline associated with the disorder.

Evaluating UX111 to improve breakdown of glycosaminoglycans

UX111 (formerly ABO-102) is an investigational novel gene therapy under evaluation in the ongoing pivotal Transpher A trial in patients with Sanfilippo syndrome type A (MPS IIIA). UX111 is dosed in a one-time intravenous infusion using a self-complementary AAV9 vector to deliver a functional copy of the SGSH gene to cells of the CNS and peripheral organs. The therapy is designed to address the underlying sulfamidase enzyme deficiency responsible for abnormal accumulation of glycosaminoglycans in the brain and throughout the body that results in progressive cell damage and neurodevelopmental and physical decline.

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 medicinal product designations in the EU.

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