Our overarching goal is to ensure effective treatments and expert care are available to all those living with myotonic dystrophy without delay. To achieve this, we aim to:

  • Fund the very best, peer-reviewed, scientific research

We believe that investigating a variety of therapeutic approaches will be necessary in order to develop effective treatments for people affected by myotonic dystrophy.

Increased investment and collaborative, international effort are needed to progress our understanding of myotonic dystrophy and to pave the way for more clinical trials. For a condition this complex and variable, understanding the relationship between genetic differences and the varied and wide-ranging symptoms is essential to maximizing impact on the condition by identifying new targets for treatment and increasing the efficiency of clinical trials.This is an important moment for myotonic dystrophy research. Our understanding of the condition has now advanced to the point where we have been able to develop one approach to treatment to clinical trial stage, and the scale of research is expanding. It is vital that we maintain this momentum to accelerate real change and benefit for those affected.”
Professor Darren Monckton

  • Ensure the development of vital infrastructure to ensure clinical trial readiness to benefit myotonic patients in the UK

UK clinicians have valuable experience of designing clinical trials for symptom management in myotonic dystrophy, and urgently need the infrastructure that will allow them to build on this as more genetic treatments enter clinical trial. Patient registries, clinical trials co-ordinators and natural history data (essential to developing outcome measures/biomarkers) all need to be in place in advance, co-ordinated and well managed, to ensure clinical trials can take place in the UK. Ensuring optimal standards of care is essential to support clinical trials; Muscular Dystrophy UK is collaborating with the Myotonic Dystrophy Foundation in the USA to establish a set of standards of care for myotonic dystrophy, recognised by NICE.

“MDUK’s foresight in supporting trial readiness in myotonic dystrophy has been a catalyst to increase clinical research in the UK.  The international study OPTIMISTIC, PhenoDM1 in Newcastle and London and the natural history study in Nottingham carried out by Dr Saam Sedehizadeh’s have all benefitted. MDUK’s commitment to fund new research into this disease comes at a crucial time as we hope to see research involving new treatments and therapies move into clinical trials in the UK in the near future”

Professor Hanns Lochmϋller

  • Lead the work with regulatory bodies and pharmaceutical companies to ensure myotonic patients have early access to emerging treatments

New treatments may carry a relatively high cost for health commissioners as these are classed as ‘rare conditions’. Muscular Dystrophy UK has the experience of working with the regulatory bodies and has the influencing skills and ability to ensure that patients have early access to any emerging treatments.

  • Fund peer-reviewed clinical research projects addressing symptom management

Clinical research is urgently needed to support symptom management and to gather evidence underpinning best practice in care and support of people living with myotonic dystrophy.

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