6th March 2014 Six desert marathons in less than a week: Rob dedicates his 'Toughest Footrace On Earth' to Will The Marathon des Sables, known simply as the MdS, the race - is a gruelling multi-stage adventure through a formidable landscape in one of the world’s most inhospitable climates - the Sahara desert. Rob Leonard, who has trained hard for two years already for this event which takes place in April, wants to race in memory of Will. read more
25th February 2014 Myotubular myopathy 'rescued' in new and innovative pre-clinical studiesDr Jocelyn Laporte's team at IGBMC in France, through an innovative gene modulation approach, genetically decreased levels of dynamin 2. Results are remarkable as there is an almost total recovery of all clinical features including normalisation of muscle strength and respiratory function, and proper localisation of nuclei in the majority of muscle cells. read more
5th February 2014 Audentes~Genethon announce their agreement to develop treatment for patients affected by X-Linked Myotubular Myopathy Matthew Patterson, President and CEO of Audentes said: “The combination of Genethon’s expertise in the manufacturing and development of gene therapy products and Audentes’ world-class orphan drug development team will allow us to rapidly advance this program.” Both Audentes and Genethon will be at our Family Conference this year to help answer any questions. read more
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