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Genetic Linkage

How this promising gene therapy for a rare neuromuscular disease was fueled by passionate parents and a dog

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.

 

To continue reading, go to Genetic Literacy Project, where this article first appeared.

 

 

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Gene Therapy for Myotubular Myopathy: Early Signs of Success!

Paul Frase with his son Joshua.
Parents cherish developmental milestones, from a newborn’s grip of an offered finger; to an infant’s holding her head up the first time; to rolling over, creeping, and crawling; then to standing, cruising, and finally walking. Even kicking during a diaper change or yowling requires muscle strength and coordination. But a boy with X-linked myotubular myopathy (MTM) is so weak that even breathing is a huge struggle. If a baby survives the initial hospital stay, care at home becomes a full-time job and is only supportive, delaying the inevitable. That grim picture may be changing. Read More 
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