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Accelerating Treatments

 


What We’re Doing To Speed Up Research

Our Aims

Since 2006 our aims have been to:

  • Focus on research that is not likely to be funded by public or industrial funding
  • Fund translational research
  • Encourage collaboration between academics and academic institutions
  • Have a rigorous academic peer review process
  • With an independent Scientific Advisory Board
  • Fund research into all forms of myotubular and centronuclear myopathy

The Trust was founded in 2006 when there was an increasing amount of investment in research into other ‘more common’ neuromuscular diseases. We wanted to make sure that myotubular and centronuclear myopathies would keep pace with scientific developments. Hence the idea of a disease specific translational research charity focused on proof of principle research was born.

It takes enthusiastic people to bring things ahead of schedule – Professor Francesco Muntoni

Due to its rarity, our fundraising for research relies entirely on the goodwill and support of people affected by this condition. 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.

One of the things that I really value about the interaction [with the Myotubular Trust] is that projects are evaluated based on scientific merit. Even if I don’t get a grant, it makes me feel like the best projects are being funded, not because of who I am or who I know but because the work that I’m doing has been reviewed by experts in the field and thought to be really the most meritous – Dr James Dowling, Toronto Hospital for Sick Children, Canada

Our Funded Projects

Gene therapy for x-linked myotubular myopathy and pathophysiology – Dr Ana Buj Bello, Genethon, Evry, France – £102,290 over 2 years

Membrane trafficking and T tubule structure and function in a canine model of centronuclear myopathies– Dr Richard Piercy, Royal Veterinary College, London – £38,548 over 3 years

Deciphering the molecular pathway involving centronuclear myopathy genes – Manuela D’Alessandro, IGBMC, Illkirch, France – £120,000 over 3 years

Gene therapy for autosomal dominant centronuclear myopathy by Transplicing – Dr Marc Bitoun, INSERM, Paris – £102,340 over 2 years

Next generation sequencing to tackle centronuclear myopathies – Dr Jocelyn Laporte, IGBMC, France – £62,000 over 2 years

Secondary pathogenic mechanisms in XLMTM and CNM – Dr Susan Treves, Basel University Hospital, Basel, Switzerland and Dr Heinz Jungbluth, King’s College London – £116,664 over 3 years

Pre-clinical gene replacement therapy for X-linked myotubular myopathy (MTM1) – Dr Anna Buj Bello, Genethon, Evry, France – £110,300 over 2 years

Reducing DNM2 as a novel therapeutic target for centronuclear myopathy– Dr Jocelyn Laporte, IGBMC, France – £132,000 over 3 years

PI3 Kinase inhibition as a novel treatment strategy for myotubular myopathy (MTM1) –Dr James Dowling, Hospital for Sick Children, Toronto, Canada – £102,500 over 2 years

Myotubular and Centronuclear Myopathy Patient Registry curation –Professor Hanns Lochmueller, TREAT-NMD, John Walton Muscular Dystrophy Research Centre, Newcastle University – £60,744 over 2 years

Combinatorial therapy as a novel treatment strategy for myotubular myopathy (MTM1) – Dr James Dowling, Hospital for Sick Children, Toronto, Canada – £216,000 over 2 years

Case Study

The funding from the Myotubular Trust made all the difference – Dr Ana Buj-Bello, Genethon, France

Proof of principle research investment really can make a difference.

Our goal is to fund the research that helps scientists establish proof of principle for innovative and promising ideas. For rare diseases, it can be incredibly difficult to get funding for this vital stage of research, but once that proof of principle is established for a potential treatment, then other larger charities and organisations are much more likely to provide funding for the next stage of research. Our first grant award in 2009 was to Dr Ana Buj Bello to establish an approach to gene therapy for x-linked myotubular myopathy. This grant was for £102,000 and the work progressed so well that by 2010 the project received a grant of $783,000 from MDA in the US and AFM in France. From there other charities contributed to this grant, and eventually a biotech start-up, Audentes Therapeutics, emerged to take this concept to trial. The first myotubular myopathy patient was dosed in this gene therapy clinical trial in September 2017.

 

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