The eminent journal Nature Communications has just published an article on the work of Dr James Dowling and his team at Toronto Hospital for Sick Kids, Canada, investigating the beneficial effects of the drug Tamoxifen in improving the symptoms of x-linked myotubular myopathy. This work was supported by a grant from the Myotubular Trust and has shown that Tamoxifen helped improve the muscle function, progression of the disease and life expectancy of x-linked myotubular myopathy in the mouse model of the condition.
You can read the full article here Tamoxifen therapy in a murine model of myotubular myopathy – 2018 J Dowling et al. This is exciting progress as Dr Dowling and his team’s findings provide pre-clinical evidence to support clinical translation to patients with x-linked myotubular myopathy, and paving the way to clinical trials.
Dr James Dowling said:”Because these drugs have previously been used in children, we feel that the pathway for clinical development and testing of them can be feasibly accomplished in a timely and cost effective manner.”
Dr Dowling presented his work at our Family Conference in 2018. Here, you can watch Dr Dowling’s presentation, and see how Myotubular Trust funding has helped. Our recent grants (2016 and 2017) to Dr Dowling have also been supported by our friends and partners, the German/Dutch family association ZNM-Zusammen Stark! e.V. We are also delighted that the Canadian Institute of Health Research (CIHR) has been a major co-funder of this work.
Myotubular Trust is delighted to have been instrumentally involved on a long-term basis in the funding of Dr James Dowling’s work both in Tamoxifen, and in reducing levels of the phosphoinositide called PI(3)P to also reduce the symptoms of x-linked myotubular myopathy. We are very grateful to our supporters whose fundraising means we can continue to support a wide range of research avenues to a treatment for everyone affected by myotubular and centronuclear myopathy.
The Myotubular Trust grant funding for Dr James Dowling, leading to this breakthrough
Myotubular Trust has provided grant funding for Dr Dowling and his team since 2014 to investigate the regulation of ‘PIPs’ in XLMTM patients as a potential route to Tamoxifen as a potential drug treatment. In 2017, Dr Dowling was the recipient of further 3 year grant from the Myotubular Trust, supported by ZNM-Zusammen Stark!, to continue his investigation of drug repurposing of Tamoxifen for myotubular myopathy as well as a second drug, and their effectiveness to be used either alone or to complement other therapies as a novel treatment strategy. You can read more about our most recent grant funding for Dr Dowling’s work here.
Dr James Dowling and the team at Toronto Hospital for Sick Kids were provided with grant funding in 2014 and 2015 to research a potential treatment for myotubular myopathy. Dr Dowling’s initial grant funding had been to prove the effect of reducing levels of the phosphoinositide called PI(3)P on reducing the symptoms of myotubular myopathy. Results for this was work was encouraging and published in the high impact journal, JCI The Journal of Clinical Investigations, in August 2016: PIK3C2B inhibition improves function and prolongs survival.