The Myotubular Trust is delighted to announce two grant awards for 2015, both of which are only possible because of the support of our families, friends and community.

The first award of 2015 is a second year’s grant to Dr James Dowling at Sick Kids’ Hospital, Toronto, who was a recipient of a 2014 Myotubular Trust award

Dr Dowling is working on a very promising project to develop an effective therapy for myotubular myopathy. He and his team have shown that the lack of myotubularin caused by the genetic mutation mtm1 results in an excess of a phosphoinositide called PI(3)P. They have also shown that inactivating
PI(3)P production removes all muscle problems and establishes a normal life span.

In the first year’s project, Dr Dowling’s team further verified this link between reduced PI(3)P and a complete reversal of the symptoms of the condition. They have also shown that this works even after the disease has started, showing that this is a potential therapeutic strategy beyond birth. They also carried out a large scale screening of chemical libraries to find existing drugs that reduce PI(3)P in humans and have identified a number.

The Myotubular Trust are awarding Dr Dowling a further £47,500 which will allow his team to further test and validate this approach, and to test the most promising drugs they identified through the screening process. Their goal is to take one of these drugs forward for human clinical trials.

As with all conditions, no one cure will work for everyone. At a time when we are delighted to be heading toward clinical trials for one approach, it is very reassuring to know that yet another very promising approach is also in development. This is the way we will ultimately find treatments for all of our community.

You can read the Dr James Dowling Lay Summary Year 2 here.

Our second award of 2015 is to the TREAT-NMD team based at John Walton Muscular Dystrophy Research Centre at Newcastle University. TREAT-NMD is a network for the neuromuscular field which was created in 2007 with the purpose of developing the infrastructure to ensure that the most promising new therapies for our rare disease world will reach patients as quickly as possible. The network of researchers and clinicians have since been focusing on developing tools to bring novel treatments through development and into the clinic and on establishing best practices. As part of this role they run a number of rare neuromuscular disease registries and we are awarding TREAT-NMD a £40,744 grant to run the Myotubular and Centronuclear Myopathy Patient Registry.

After an immense amount of consultation with the research community, the Myotubular Trust developed and launched the first disease specific global registry for myotubular and centronuclear myopathy in 2013. Registries have been a vital tool in clinical trials for rare diseases, and also in developing our understanding of those diseases. Many patients will never contact a patient organisation, but they will sign up to a Registry and in so doing, they help everyone involved in developing treatments.

From the inception of this Registry, the Myotubular Trust strongly felt that it was vital for our condition that we stay at the leading edge of thinking about how registries should be run. Therefore, we are delighted to be making a grant to this eminent group to ensure the evolution of the Myotubular and Centronuclear Myopathy Patient Registry for the benefit of patients and researchers alike. This grant will pay for a new registry platform incorporating current thinking on how best to reach out to a patient and clinical community, and the ongoing management of the Registry from data verification, to data analysis and communication to those registered.

To understand more about Registries, click on the following link: http://www.treat-nmd.eu/resources/patient-registries/what/