Preclinical Studies Show Robust Uptake and Glycogen Reduction in Multiple Tissues, Including Brain and Spinal Cord
Initial Validation for Collaboration Combining Amicus-Engineered Transgenes with Penn’s AAV Gene Therapy Technologies
Significant and Broad New Amicus Platform Technology with Potential to Engineer Lysosomal Proteins to Enhance Targeting
Ongoing Preclinical Studies to Confirm Clinical Candidate Selection in 2019
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Pompe disease is an inherited lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced or absent levels of GAA lead to accumulation of glycogen in cells, which results in the clinical manifestations of Pompe disease. Amicus, in collaboration with the Gene Therapy Program of the
This initial preclinical study used a single high dose of AAV in GAA knockout mice with either natural unmodified hGAA (“natural hGAA”) or an Amicus/
Preclinical Poster Highlights for Amicus/Penn AAV Gene Therapy for Pompe Disease:
- The Amicus/
PennhGAA AAV gene therapy demonstrated more uniform cellular uptake and lysosomal targeting compared to natural hGAA AAV gene therapy.
- The engineered hGAA AAV gene therapy demonstrated robust glycogen reduction in all key tissues in Pompe disease that were assessed.
- In the central nervous system (CNS), the engineered hGAA AAV gene therapy showed robust glycogen reduction in neuronal cells, suggesting this may be an effective way to address neuronal aspects of Pompe disease. Natural hGAA AAV gene therapy did not show glycogen reduction in neuronal cells.
- Initial findings validate the Amicus/
Penncollaboration, as well as the potential of this platform to design constructs that enhance protein targeting across multiple lysosomal disorders.
- Additional preclinical studies to evaluate this engineered hGAA with various doses and routes of AAV administration are underway.
- The Pompe AAV gene therapy program builds upon the protein engineering and manufacturing expertise used to successfully develop AT-GAA, the Company’s late-stage enzyme replacement therapy (ERT)-chaperone treatment paradigm.
Hung Do, PhD, Chief Science Officer of
Amicus is currently developing AAV gene therapies in collaboration with the Gene Therapy Program of the
“Amicus has differentiated itself by focusing on proteins and protein engineering, with a specific track record in the lysosomal disorders, which I believe are critically important to developing AAV gene therapies that can safely and effectively address these diseases,” said
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About Pompe Disease
Pompe disease is an inherited lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced or absent levels of GAA leads to accumulation of glycogen in cells, which results in the clinical manifestations of Pompe disease. The disease can be debilitating, and is characterized by severe muscle weakness that worsens over time. Pompe disease ranges from a rapidly fatal infantile form with significant impacts to heart function to a more slowly progressive, late-onset form primarily affecting skeletal muscle. It is estimated that Pompe disease affects approximately 5,000 to 10,000 people worldwide.
This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to initial preclinical data from its investigational adeno-associated viral (AAV) gene therapy program for Pompe disease in mice and the potential implications of these data for the future advancement and development of a gene therapy for Pompe disease and other lysosomal disorders and development of potential platform technologies. Words such as, but not limited to, “look forward to,” “believe,” “expect,” “anticipate,” “estimate,” “intend,” "confidence," "encouraged," “potential,” “plan,” “targets,” “likely,” “may,” “will,” “would,” “should” and “could,” and similar expressions or words identify forward-looking statements. The forward looking statements included in this press release are based on management's current expectations and belief's which are subject to a number of risks, uncertainties and factors, including that the preliminary data based on a small patient sample and reported before completion of the study will not be predictive of future results, that results of additional preliminary data or data from the completed study or any future study will not yield results that are consistent with the preliminary data presented, that the Company will be not able to demonstrate the safety and efficacy of AT-GAA, that later study results will not support further development, or even if such later results are favorable, that the Company will not be able to successfully complete the development of, obtain regulatory approval for, or successfully commercialize AT-GAA. In addition, all forward looking statements are subject to the other risks and uncertainties detailed in our Annual Report on Form 10-K for the year ended
Vice President, Investor Relations & Corporate Communications
Director, Corporate Communications
Source: Amicus Therapeutics, Inc.