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At Astellas Gene Therapies, our mission is to develop genetic medicines with the potential to transform patients’ lives. Myotonic Dystrophy Type 1. As part of our dedication to the patients and households we serve, we are continually seeking to deepen our understanding of the lived expertise of those affected by genetic disorders so as to supply access to info and assets that could be useful to the communities we assist. Our Patient Partnerships Team is devoted to bringing affected person experience into all points of our growth programs. Our precedence is to weave patient and caregiver perspectives into the fabric of all that we do on a day-to-day foundation. And we advocate for patients and households with the dedication, dedication and passion that it takes to make sure that our entire group is doing what is greatest for patients. X-Linked Myotubular Myopathy (XLMTM) is a serious rare, genetic situation that affects skeletal muscles resulting in extreme muscle weakness (hypotonia) and Healthy Flow Blood USA profound respiratory distress, typically requiring invasive ventilation help. XLMTM is a monogenic disorder, caused by pathogenic variants within the MTM1 gene, resulting in absent or dysfunctional myotubularin protein. Pompe disease is a uncommon, inherited disorder characterized by progressive muscle weakness and respiratory impairment. It is attributable to acid alpha-glucosidase (GAA) enzyme deficiency ensuing from variants within the GAA gene. Absence or deficiency of GAA leads to accumulation of glycogen within the lysosomes of all cells in the body. Myotonic dystrophy type 1 (DM1) is a rare, genetic, neuromuscular illness that impacts a number of organ systems with signs ranging from myotonia and muscle weakness to cardiac and respiratory dysfunction, excessive sleepiness, and Healthy Flow Blood intellectual incapacity. If you have an interest to learn extra about the drug development course of and clinical trials for gene therapy therapies, please see the "Our Pipeline" page.