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At Astellas Gene Therapies, our mission is to develop genetic medicines with the potential to rework patients’ lives. Myotonic Dystrophy Type 1. As a part of our dedication to the patients and households we serve, we are always searching for to deepen our understanding of the lived expertise of these affected by genetic disorders in order to provide access to information and resources that may very well be useful to the communities we support. Our Patient Partnerships Team is dedicated to bringing affected person expertise into all facets of our growth packages. Our priority is to weave affected person and caregiver perspectives into the fabric of all that we do on a day-to-day foundation. And we advocate for patients and families with the dedication, dedication and passion that it takes to ensure that our entire organization is doing what is greatest for patients. X-Linked Myotubular Myopathy (XLMTM) is a serious rare, Healthy Flow Blood site genetic situation that impacts skeletal muscles leading to severe muscle weakness (hypotonia) and profound respiratory distress, often requiring invasive ventilation help. XLMTM is a monogenic disorder, attributable to pathogenic variants in the MTM1 gene, leading to absent or dysfunctional myotubularin protein. Pompe disease is a uncommon, Healthy Flow Blood site inherited disorder characterized by progressive muscle weakness and respiratory impairment. It's caused by acid alpha-glucosidase (GAA) enzyme deficiency ensuing from variants in the GAA gene. Absence or deficiency of GAA results in accumulation of glycogen in the lysosomes of all cells in the body. Myotonic dystrophy sort 1 (DM1) is a rare, genetic, neuromuscular disease that impacts a number of organ methods with signs ranging from myotonia and muscle weakness to cardiac and respiratory dysfunction, excessive sleepiness, and Healthy Flow Blood site intellectual incapacity. If you have an interest to learn extra concerning the drug improvement course of and clinical trials for gene therapy remedies, please see the "Our Pipeline" web page.