26th November 2013 Autumn 2013 Newsletter Catch up on the lastest news about our research and see how you can help us continue to make a difference for myotubular and centronuclear myopathy. read more
24th October 2013 New Gene Discovered, Linked To Centronuclear Myopathy Dr Jocelyn Laporte and his team at Strasbourg have announced today "Thanks to research funding support from Myotubular Trust, we could participate to an international collaborative study that culminated in the identification of mutations in Titin in patients presenting with centronuclear myopathy. Titin is the largest protein of the human body, and acts as a molecular spring during muscle contraction and relaxation." It is hoped that this new discovery will help more patients who are still without a formal diagnosis. read more
18th October 2013 Myotubular Trust Announces A Sixth Call To Grant Funding Application We are looking to fund further projects that will help find a cure and/or treatment for any of the three types of myotubular myopathy, focusing on reserach that would not generally be funded by public or industrial funding sources. In particular we would like to encourage the application of new technologies to research into myotubular and centronuclear myopathy which may involve collaboration between different medical disciplines and / or different research institutions. apply here
9th October 2013 We Are Delighted To Be The Healy Group's Charity Of The Year We were nominated to The Healy Group by two Healy team members, whose families are affected by myotubular myopathy. The Healy Group is being tremendously helpful and supportive to our charity this year and we are delighted to have their support. read more
29th September 2013 Patient Registry Now Launched In Five European Languages! The MTM and CNM Registry is now available in five languages: German, French, Italian, Spanish as well as in English. We hope this will help the registry locate more non-English speaking families, and benefit our researchers' understanding of this group of conditions. It will also assist in the early planning of clinical trials. Join Now
Myotubular Myopathy is a rare muscle condition which affects mostly boys at birth, and sometimes an even rarer form develops later in life affecting both boys and girls.
It causes profound muscle weakness. Most critically it affects the muscles that control breathing and swallowing and is a constant threat to life - even a simple cold could prove fatal. Sadly many do not survive their first year of life*.
Like all rare diseases it is very difficult to attract research funding for Myotubular Myopathy, despite the severity of its impact on the children affected. The Myotubular Trust has been set up to raise funds and begin the process of finding a cure.
The Myotubular Trust constantly aims for 100% of all funds raised by our supporters to go directly towards research, to help find a cure or treatment for children with myotubular myopathy**.
*source: Orphanet Journal of Rare Diseases. Centronuclear (myotubular) myopathy"
** achieved every year to date and to latest accounts at 31 December 2012