This innovative therapy introduces a promising approach for treating inherited Phosphomannomutase 2 (PMM2) deficiency by replenishing enzyme activity directly within affected tissues.

The absence of effective therapies for PMM2 deficiency leads to high morbidity and mortality in PMM2-CDG patients, as current treatment strategies fail to target the root cause of the disorder and provide minimal symptomatic relief.

Our AAV9-PMM2 gene therapy offers a promising new treatment option for those affected by PMM2-CDG. Utilizing a virus vector, it delivers a functional PMM2 gene to the patient’s cells, aiming to correct the enzyme deficiency at the source. This approach has the potential to provide lasting benefits and improve patient outcomes significantly. It’s also a valuable tool for researchers studying the disease and could contribute to other gene therapy efforts for similar conditions. In essence, it’s a more targeted and potentially effective treatment compared to what’s currently available.

Lead Identified

• Directly targets the root cause of PMM2-CDG by compensating for the deficient PMM2 enzyme activity.
• Utilizes AAV9, an adeno-associated virus vector known for its safety and efficacy in gene therapy applications.
• Offers potential for long-lasting effects with a single treatment, unlike current therapies that require repeated dosing.
• Proof-of-concept studies show augmented PMM2 expression and improved glycosylation in patient-derived fibroblasts.

Zhong M, Balakrishnan B, Guo AJ, Lai K. AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG). Mol Genet Metab Rep. 2023;38:101035. Published 2023 Dec 16. doi:10.1016/j.ymgmr.2023.101035

Aaron Duffy
(801) 585-1377
aaron.duffy@utah.edu