Treatment options for patients diagnosed with Pompe disease (PD) could continue to expand, according to a news release from Aro Biotherapeutics.

A novel therapeutic approach for patients with PD could soon be tested in clinical trials. This potential treatment is a Centyrin-small interfering RNA (siRNA) conjugate that was just granted Orphan Drug Designation by the US Food and Drug Administration (FDA).

The compound is referred to as ABX1100. Developers are planning to initiate clinical trials in mid-2023.

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The mechanism of action of this siRNA involves targeting the genes that encode glycogen synthase 1 (Gys1) and subsequently downregulating them. Reducing this enzymatic activity will lower glycogen levels in muscle cells by decreasing their synthesis.

PD is an uncommon hereditary disease caused by a mutation in the acid alpha-glucosidase (GAA) gene that impairs the proper functioning of the GAA enzyme, which is responsible for degrading glycogen in muscle fibers. Regardless of this phenomenon, Gys1 continues to generate glycogen in patients with PD, resulting in an imbalance between the production and breakdown of this molecule, which leads to its accumulation in the skeletal muscle.

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Glycogen accumulation is arguably the most important factor that determines PD progression and hence contributes to symptoms and decreased quality of life in these patients. It is expected that reducing glycogen synthesis would greatly benefit individuals with PD.

Current treatment guidelines include enzyme replacement therapy (ERT) with the administration of recombinant GAA through intravenous injections. Although useful, some concerns remain regarding this approach; for example, ERT cannot be specifically delivered to skeletal muscle, resulting in limitations in terms of safety and effectiveness.


Aro Biotherapeutics receives FDA Orphan Drug Designation for ABX1100 for the treatment of Pompe disease. News release. Aro Biotherapeutics; August 10, 2022.