Many treatments for rare diseases begin with families who work tirelessly, sometimes for decades, to fund the initial studies leading to the clinic. For X-linked myotubular myopathy (MTM), an amazing couple and their brave and brilliant son; a team of geneticists, physicians, and veterinarians; and some incredible dogs lie behind the encouraging interim findings presented at the recent American Society of Gene and Cell Therapy annual meeting in Washington, DC.
Several boys who were barely able to move and were completely dependent on ventilators are now eating, making sounds and walking with assistance, while the protein their bodies had been unable to manufacture is accumulating in their muscle cells. Audentes Therapeutics presented the results at a Presidential Symposium that highlighted several strides during the past year against rare neuromuscular diseases, including muscular dystrophies and spinal muscular atrophy. The interim data for MTM are here.
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