Stephen Pakola on MPS1
From Positive Data from Regenxbio’s Gene Therapy Trials for MPS I and MPS II · · CheckRare
“MPS1 and MPS2 are monogenic lysosomal storage disorders where patients are missing particular enzymes, leading to significant buildup of glycosaminoglycans—particularly heparan sulfate—which is correlated with neurocognitive and neurofunctional decline.”
On , Stephen Pakola, Executive Vice President & Chief Medical Officer at REGENXBIO INC, spoke about MPS1 during Positive Data from Regenxbio’s Gene Therapy Trials for MPS I and MPS II on CheckRare.
About Stephen Pakola
Stephen Pakola, Executive Vice President and Chief Medical Officer at Regenxbio, has been discussing the company's progress across multiple gene therapy programs in 2024 and 2025. He stated that Regenxbio is on the cusp of potential commercialization for three lead assets, including RGX-121 for Hunter syndrome (MPS II), for which he said the company anticipated finishing a Biologics License Application submission and receiving approval under accelerated approval later in 2025. Pakola also highlighted the RGX-314 program for retinal conditions, which he described as the largest gene therapy program ever conducted, with global pivotal trials enrolling 1,200 patients. He noted that the company and its partner AbbVie were advancing plans for a pivotal program in diabetic retinopathy based on Phase 2 data showing an 89% reduction in vision-threatening complications at a higher dose level. Pakola has emphasized Regenxbio's shift from licensing its NAV vector platform to advancing its own internal pipeline, including programs for MPS I and MPS II, Duchenne muscular dystrophy, and wet age-related macular degeneration. He has discussed the company's use of suspension cell bioreactor production to improve manufacturing yields and purity, and has pointed to data from MPS trials showing biomarker reductions and developmental improvements in treated children. Pakola has also described the company's strategy of using both subretinal and suprachoroidal delivery routes for RGX-314, with the latter intended to enable in-office administration for diabetic retinopathy patients.