Myotubular Trust

The aim of Myotubular Trust is to bring forward the day when a cure, or treatment, is available for everybody living with myotubular and centronuclear myopathy, irrespective of their genetic mutation or age. 

Myotubular and centronuclear myopathy are a rare group of muscle conditions, affecting mainly baby boys from birth. The conditions cause profound muscle weakness, affecting all the body’s voluntary muscles. Most critically, myotubular and centronuclear myopathy affect the muscles that support breathing, coughing and swallowing. Currently, no cure is available. Children with the disease constantly live on the edge of life: they can literally drown on their own secretions and even a simple cold can be life threatening. Very sadly, this means that most children will die in infancy (80%) and do not reach adulthood (99%). Children with myotubular myopathy need vigilant nursing care, ventilators to breathe; power wheelchairs to get around and are usually fed via a tube into the stomach.  Otherwise, they are happy, cognitively unaffected and academically bright babies and children: ‘just a regular kid trapped in a body that does not work’ as one parent put it. Due to the high mortality rates, exact numbers are not known but it is thought that 1:50,000/100,000 are affected.

Given its rarity, there is no public funding available to support research and our work is only possible thanks to the determination and generosity of our supporters.

To find out more, visit www.myotubulartrust.org

Anne Lennox and Wendy Hughes, two parents of children affected by myotubular myopathy, set up the Myotubular Trust in February 2006. It was very clear that as a very rare disease, research into myotubular and centronuclear myopathy could lag substantially behind the scientific developments in other fields of muscle disease, due to lack of dedicated funds, and the difficulty of “competing” with other more common diseases. 

The Founding Patron is the renowned Professor Victor Dubowitz, Emeritus Professor of Paediatrics at University of London and President of the World Muscle Society. Professor Francesco Muntoni, Professor of Paediatric Neurology and Head of The Dubowitz Neuromuscular Centre at the Institute of Child Health/Great Ormond Street Hospital for Children, is our Scientific Advisor and Chair of our Scientific Advisory Board.

Due to its rarity, our fundraising for research relies entirely on the goodwill and support of people affected by these conditions. In fact, all of the research funding raised by Myotubular Trust can be traced back to an individual child or patient – a ripple effect of support.

In 2008, once we had raised enough to offer substantial research funds to applicants, we set up our Scientific Advisory Board, and a rigorous peer review process. This was to ensure that we were funding the best science.

Every cent raised by our supporters is used to fund world-class research to find a cure, or treatment, for those living with myotubular and centronuclear myopathy.  

Visit https://myotubulartrust.org/research/research-news/ to read more about the research that has been funded to date, and to see the difference that your support can make.