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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”

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.

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.  You can also read about Ana Buj-Bello’s Research Laboratory here where the gene therapy for x-linked myotubular myopathy was first discovered.

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 2023

In 18 years we have raised in excess of £2.9M and funded 18 major research grants internationally. All three treatment options that have progressed to clinical trials for our condition have received early proof of principle funding from Myotubular Trust.

We held eight family conferences (including 2 virtually in 2020 & 2021) – bringing together patients and their families and carers, researchers and medical professionals to exchange ideas and support.

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

2023

We awarded a grant to Professor Jim Dowling in Canada to investigate how the liver behaves in myotubular myopathy. This grant was awarded in partnership with Muscular Dystrophy UK.

We supported the development, launch and promotion of a liver section in the Myotubular and Centronuclear Patient Registry, in a joint initiative as part of the International Liver Collaborative Working Group. The liver data then gathered from patients led to a new research publication, and a poster presentation at the World Muscle Society.

With the Liver Collaborative we developed a liver information leaflet for patients to take to their medical teams, to improve standards of care and support future research and treatment development.

We set up a research team to investigate the possible muscle symptoms and lived experience of xlmtm carrier women in the UK, and disseminated a survey to carrier women in the UK and Ireland.

2022

We awarded a grant to Dr Ana Buj Bello at Genethon in Paris to develop a more specific and potentially safer gene therapy vector, and to carry out studies on the liver in myotubular myopathy 

We presented at the 2022 MHRA All Staff annual event on the experiences of a rare disease engaging with the UK regulator

We hosted a ‘Burdens and Lessons learnt from trials’ webinar as part of a study led by Dr Nicol Vöermans of Radboud University, Netherlands on the experiences of participating in clinical trials and studies 

We developed and launched a survey to gather the experiences of the UK provision of care support for children with myotubular or centronuclear myopathy

Along with the US patient organisation MTM & CNM Family Connection we set up an international Liver Collaborative Working Group to gather academic researchers and medical experts to seek a better understanding of some of the liver challenges experienced in the community

2021

We held a UK Scientific Patient Update Webinar with presentations from Professor Francesco Muntoni, Dr Giovanni Baranello, and Chris Freitag, Chief Medical Officer, Dynacure

We organised a webinar for the UK community, ‘Coping through COVID and beyond’, delivered by Dr Christianna Kyriacou, Counselling Psychologist, Royal Brompton Hospital, London

We presented at the symposium, ‘Turning the Tide – respiratory management of neuromuscular patients in the era of new treatments’

We presented at the Life Arc conference, and contributed to their published expert advice on the opportunity and challenges of repurposing medicines https://myotubulartrust.org/expert-advice-to-support-work-around-repurposing-medicines-now-published/

We partnered with the UK regulator, the MHRA, to present on Patients as Partners in Medicines Development at the BioIndustry Association – MHRA Regulatory Innovation Conference 2021

2020

We awarded a joint grant with GOSH Charity, to fund the UK arm of an international clinical trial, investigating the repurposing of the oncology drug, tamoxifen, for x-linked myotubular myopathy.

We participated in the European Neuromuscular Centre (ENMC) workshop on Mouthpiece Ventilation (MPV), resulting in the publication of two papers – international best practice guidelines on the management of MPV in neuromuscular disorders.

We held a 7th online UK Scientific Family Conference with Keynote Speakers to include Professors Francesco Muntoni, Ros Quinlivan and Giovanni Baranello from UCL, London.

We took part in the creation and promotion of a European study into symptoms of muscle disease in female carriers and relatives of boys with x-linked myotubular myopathy.

We announced a grant award to Dr Karim Hnia at INSERM, France, to investigate a new pathway for a route to treatment in x-linked myotubular myopathy.

2019

We announced a joint grant call with the world renowned Great Ormond Street Children’s Hospital (GOSH) Charity for a £250,000 research award.

We joined Genetic Alliance’s ‘Action for Access’ Campaign for rare disease treatments, representing patients with myotubular and centronuclear myopathies at the Houses of Parliament, London.

We held a shared Patient Information Day with the UK umbrella organisation for muscle disorders – MDUK.

We initiated and took part in a regulatory advice meeting with the MHRA for a proposed repurposing clinical trial.

We were invited to join the Scientific Committee of the JIVD/ERCA 22 Congress, to help to represent the ‘patient voice’ in the planning of its programme. The JIVD/ERCA Congress is the largest international meeting of its kind, to promote latest care standards in the field of respiratory medicine.

2018

We awarded a 3 year grant to Dr James Dowling, Hospital for Sick Kids, Canada, investigating combinations of existing licensed drugs with the potential to be ‘repurposed’ for myotubular myopathy.

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 held a fifth Family Conference in July, jointly with our friends at ZNM-Zusammen Stark!

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.

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.

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.

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.

2013

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

2012

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

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.

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.

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.

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.  With a specific mention to the IGY Foundation for their faith in the work that we do.

In 2024 we received a grant of £25,000 from Astellas Pharmaceuticals to support the ongoing development of the Myotubular and Centronuclear Myopathy patient registry (including expanded datasets and webinars for the patient community); support for the setup and coordination of a study of xlmtm carrier women in the UK; contribution towards the costs of organising our 2024 Hope Walks. This grant constituted less than 18% of our 2024 income. 

            

 

 

 

 

 

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

 

Myotubular Trust recognises that the duty of care to safeguard the welfare of children and vulnerable adults is very important. Please see our Safeguarding Policy here.

 

 

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