A molecular “tag” to improve distribution of the acid-alpha glucosidase (GAA) protein within cells enhanced the efficacy of gene therapy in a mouse model of Pompe disease, a recent study suggests. The study, titled “AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the…
Experimental treatment
Adding carvedilol, the active compound of a blood pressure medicine, to enzyme replacement therapy (ERT) for Pompe disease can improve its effectiveness in reaching and strengthening skeletal muscles, a study in mice suggests. This finding, “Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
Amicus Therapeutics announced that it has entered into a manufacturing agreement with Paragon Bioservices to drive the development of technologies, including gene therapies, now in preclinical testing for the treatment of rare genetic disorders like Pompe disease. These include a series of lysosomal disorder programs, jointly developed by Paragon (now…
Salmeterol, a vasodilator approved for the treatment of asthma and chronic obstructive pulmonary disease (COPD), has shown potential to improve the effectiveness of gene therapy for Pompe disease. Studies in mice demonstrated that administering salmeterol as an add-on treatment to gene therapy can significantly reduce the amount…
Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have expanded their research collaboration to develop new gene therapies for Pompe disease as well as other rare genetic diseases, the company announced. Encouraged by the success of an ongoing collaboration,…
Amicus Therapeutics announced positive preclinical data showing that its investigational gene therapy for Pompe disease is effectively delivered and leads to significant glycogen reduction at key tissues in mice, including the brain and spinal cord.
Amicus Therapeutics received two U.S. patents for ATB200, a unique recombinant (lab-made) human acid alpha-glucosidase (rhGAA) enzyme, and the biologic component of the company’s investigational Pompe disease therapy AT-GAA. One patent covers the composition of matter for rhGAA; the second, the methods for making ATB200. The patents expire in 2035…
Amicus Therapeutics has dosed the first patient in the Phase 3 PROPEL clinical trial that aims to compare investigational therapy AT-GAA (ATB200/AT221) to standard treatment in patients with late-onset Pompe disease. The trial (NCT03729362) is still recruiting patients. Throughout 2019, approximately 100 participants who have been previously…
A research team in Korea has developed a new method using rice to produce lab-made human acid alpha-glucosidase (GAA) for the treatment of Pompe disease. Their findings were published in the study, “N-glycan Remodeling Using Mannosidase Inhibitors to Increase High-mannose Glycans on Acid α-Glucosidase in Transgenic Rice…
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