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Myotubular Myopathy is a rare but debilitating muscular disease caused by a defect on the MTM1 gene, which in most cases is passed from unaffected -- and often unsuspecting -- mothers carrying the gene to their sons on the x-chromosome. The defective gene prevents boys with the disease from creating a protein crucial for muscle function. It’s estimated that 40 children in the U.S. are born with Myotubular Myopathy every year.  It is also estimated that there are only 200 children living in the U.S. with MTM.  Presently, no effective treatments are available.

Through a combination of perseverance and luck, a handful of researchers are on the verge a game-changing breakthrough that could lead to a treatment for Myotubular Myopathy and dozens of other rare muscle diseases. A new type of gene replacement therapy and enzyme replacement therapy both have yielded results far beyond even the most optimistic expectations. If all goes well -- and the money doesn’t run out -- human clinical trials could begin as soon as 2017!

In May of 2013, Vector, Boston Children's Hopital's science and clinical innovation blog, published a comprehensive two part article about the history of MTM research and the two promising treatments currently being researched: gene replacement therapy and enzyme replacement therapy.


Restoring Muscle Function in a Rare Devastating Disease Part 1


Restoring Muscle Function in a Rare Devastating Disease Part 2

William and his dog (Buzz)

(An unaffected male descendent of Nibs)

Significant advances in the search for a treatment for Myotubular Myopathy were recently published. The findings were published as the cover story in the January 22, 2014 issue of Science Transitional Medicine.  To read the associated article from the University of Washington, "Gene Therapy leads to robust improvements in animal model of fatal muscle disease," click here 


Dr. Childers explains the recent findings in this video.

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