AVROBIO announced encouraging results from 6 study groups in mice, showing efficacy and safety of their AVR-RD-03 gene therapy for Pompe disease. The therapy uses hematopoietic stem cells (HSCs) and was found to significantly reduce toxic glycogen accumulation in the central nervous system (CNS) as well as in cardiac and skeletal muscle.

The results were presented during the “Disease models and Clinical Applications: Musculo-skeletal Diseases” poster session at the American Society of Gene and Cell Therapy annual meeting in Washington, DC on May 18, 2022.

“Pompe disease is a progressive, life-limiting neuromuscular disorder caused by the accumulation of lysosomal glycogen in cardiac and skeletal muscle as well as the CNS. As glycogen accumulates, patients experience severe and progressive myopathy, leading to muscle weakness, loss of motor function and ultimately cardiorespiratory failure,” Essra Ridha, MD, MRCP, FFPM, chief medical officer of AVROBIO, said.

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“We believe there is an urgent need for new treatment options that can address the systemic impact of Pompe disease and our preclinical data suggest that one dose of HSC-based gene therapy can potentially normalize glycogen levels in key tissues and halt or potentially reverse the head-to-toe impact of Pompe disease.”

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The results obtained include stable engraftment and significant GAA enzyme activity in the bone marrow 8 months after gene therapy. Additionally, in the mice administered genetically modified HSCs, their glucose levels were similar to those of controls. Overall, the substantial reduction in substrate in muscle and CNS as well as cardiac tissue and the functional improvements appear to be highly relevant for translation to patients with Pompe disease.

Future plans include engagement with regulatory agencies to establish the clinical development strategy for AVR-RD-03 and the initiation of a clinical trial in 2023.


AVROBIO announces preclinical gene therapy data for Pompe disease at American Society of Gene and Cell Therapy (ASGCT) Annual Meeting. News release. AVROBIO; May 18, 2022.