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At Astellas Gene Therapies, our mission is to develop genetic medicines with the potential to remodel patients’ lives. Myotonic Dystrophy Type 1. As part of our commitment to the patients and households we serve, we're constantly in search of to deepen our understanding of the lived expertise of these affected by genetic disorders in order to provide entry to info and resources that could be useful to the communities we support. Our Patient Partnerships Team is dedicated to bringing patient expertise into all elements of our improvement programs. Our priority 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 families 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 uncommon, genetic situation that affects skeletal muscles resulting in extreme muscle weakness (hypotonia) and profound respiratory distress, usually requiring invasive ventilation support. XLMTM is a monogenic disorder, attributable to pathogenic variants within the MTM1 gene, leading to absent or dysfunctional myotubularin protein. Pompe disease is a uncommon, inherited disorder characterized by progressive muscle weakness and respiratory impairment. It is brought on by acid alpha-glucosidase (GAA) enzyme deficiency resulting 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 type 1 (DM1) is a rare, genetic, neuromuscular illness that affects multiple organ systems with symptoms starting from myotonia and muscle weakness to cardiac and respiratory dysfunction, extreme sleepiness, and intellectual incapacity. If you have an interest to learn extra concerning the drug improvement course of and clinical trials for gene therapy therapies, please see the "Our Pipeline" web page.