Wendy Hughes, one of the founders of the Myotubular Trust, during a recent trip to Canada, took the opportunity to interview Dr Jim Dowling at Hospital for Sick Kids, Toronto. They discussed his work, his research funded by the Myotubular Trust, and potential treatments in the pipeline.
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What inspired you to work in the field of myotubular myopathy?
Can you explain what myotubular myopathy is?
What causes myotubular myopathy?
What is the role of phosphoinositides (PIPs)?
What does that mean for the muscle?
In terms of your research, what has been your strategy and what have you learned?
What needs to be done now in order for this treatment to reach patients?
How does your new work using the anti-cancer drug compare to the effect you saw of mestinon (pyridostigmine) working for XLMTM?
What would be the effect that you would hope to see in a patient, or is it too early to tell?
Do you think it could help with other MTM-related issues, like peliosis, complications associated with the condition x-linked myotubular myopathy?
Do you think the drugs you have identified can be taken alongside other treatments, like the gene therapy, or will they be robust enough to treat MTM on their own?
Is there anything that you can say about clinical trials for x-linked myotubular myopathy at this time, are they imminent?
How has Myotubular Trust funding helped?
Is there anything else that we can be doing as a patient community to help work like yours?
What’s next with this research?
A very big thank you to Dr Dowling and all his team for their time, and for the great work they do to help find a cure or treatment for myotubular and centronuclear myopathy.