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NEWS & UPDATES

What We Do


We received charitable status in March 2006 and our charitable aims are:

  • “The relief of disability and the extension of life for those suffering from myotubular myopathy, by promoting the study of, and research into, the treatment and cure of the muscle weakness caused by myotubular myopathy”

Research

Our goal was to become a well known and respected source of funds for international researchers, the existence of which in itself may provide inspiration and focus for innovative science.  We wanted to be able to fund proof of principle research projects that would not normally be funded by public or industrial funding.

In 2008, after a period of intense due diligence, we set up our medical peer review process and established the Scientific Advisory Board.  We made our first call for applications for research projects in September 2008.  We have ensured that the review process is nothing short of world class, therefore utilising every penny donated to us in the best possible way.  From our very first grant awards to today, we have annually invested in research for centronuclear myopathy as well as the more common x-linked myotubular myopathy.  Our aim is to focus on everyone affected by this condition. Ultimately, we wish to find a cure or treatment for myotubular and centronuclear myopathy.

The first grant I received from Myotubular Trust was really helping us to start with the project; it was like opening a door. With this money we were able to establish the proof of concept that gene therapy is working in myotubular myopathy – Ana Buj-Bello, Genethon, France.

To read more about the very promising research we have funded please read our Research pages.

Family Support

Having a rare disease, especially one that is life threatening, can be very isolating.  Since founding we have supported families by putting them in touch with each other; providing contacts with and advice from leading experts in the condition and helping them with different stages of living with myotubular and centronuclear myopathy. As parents with many years of combined experience in managing the condition, we feel we are in a unique position to provide a real empathy, alongside practical advice.

We now feel that at least we are going somewhere with our son’s future plan. Thank you for your support; you are one of the reasons why we are still standing.

History of Myotubular Trust

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 rare condition, research into myotubular 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.

In June 2010 the Trust became incorporated as a company limited by guarantee (07260229) registered in England and Wales.

 

Where it all began, 2006. (Left to right: Professor Victor Dubowitz, Professor Francesco Muntoni, Wendy Hughes and Anne Lennox).


Just some of our achievements:

Between 2006 and 2016

In 10 years we raised in excess of £1.7M and funded 12 major research grants internationally.

2007—-2010—-2013—-2016—-2018

We held four Family Conferences with a fifth Conference planned for 2018 – bringing together patients and their families and carers, researchers and medical professionals to exchange ideas and support.

2008

After a period of intense due diligence we established a Scientific Advisory Board and set up a world class peer review process. Read about our peer review here.

We put out our first Call for Grants.

2009

We were the first disease specific charity to fund gene therapy proof of principle research, which is now the first approved clinical trial for x-linked myotubular myopathy. Dr Ana Buj-Bello, Genethon, Paris.

We funded the very first of our centronuclear myopathy (CNM) research projects.

2011

We funded high throughput gene sequencing for centronuclear myopathies, which ultimately contributed to the discovery of two new genes causing the condition.  These new genes help families with their family planning decisions, and has highlighted researchers to other avenues of investigation. Dr Johann Bohm, IGBMC, France.

2012

We partnered with Sparks, the children’s medical research charity.

2013

We developed and launched the first ever disease specific self-reporting patient registry, The Myotubular and Centronuclear Myopathy Patient Registry.

2014

Funding began on research to develop a drug treatment to reduce levels of the phosphoinositide PI(3)P. Dr James Dowling, Toronto Hospital For Sick Kids, Canada. 

We provided sponsorship for a TREAT-NMD Advisory Committee for Therapeutics (TACT) meeting, where a potential treatment for x-linked myotubular myopathy was evaluated by independent neuromuscular academic reviewers.

2015

We funded a grant to develop the first ever “cross therapy” approach for any myopathy. Dr Jocelyn Laporte, IGBMC, France.

We partnered with TREAT-NMD to host The Myotubular and Centronuclear Myopathy Patient Registry at the University of Newcastle.

2016

We held our first joint European Family Conference with our friends in Germany ZNM-Zusammen Stark!

With sponsorship from Tradeweb, we made our 10th anniversary film.

2017

We partnered with Great Ormond Street Hospital Children’s Charity for grant management.

We were invited to join the Patient Group Consultative Forum of the MHRA UK (Medicine and Healthcare Products Regulatory Agency).

We announced a joint grant call with the renowned children’s research charity Action Medical Research for a £200,000 shared grant in 2018.

A BBC Radio 4 Charity Appeal in support of the Trust was presented by stage and screen actor, Nicholas Farrell.

2018

In January, we sponsored a Standards of Care meeting about centronuclear myopathies for clinicians, patients and their healthcare professionals at the world-renowned Royal Brompton Hospital, London. We sponsored open access for a new publication “Airways clearance techniques in neuromuscular disorders : A state of the art review”

We will hold a fifth Family Conference, jointly with our friends at ZNM-Zusammen Stark!

Since founding, every penny raised by our supporters has been ring fenced to pay for research.  We have been able to raise the money for our running costs separately, with the kind support of specific corporate donations and grants from other Trusts and Foundations.

In June 2010 the Trust became incorporated as a company limited by guarantee (07260229) registered in England and Wales.

 

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