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 the translation of this research to patients with x-linked myotubular myopathy, thereby paving the way to human 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.