Muscular Dystrophy UK is committed to accelerating the development of effective treatments for the complex muscle-wasting condition myotonic muscular dystrophy.
Thanks to the support of UK families and other donors, for more than 50 years we have played a vital role in funding the research and clinical evidence underpinning developments to date – including a major contribution to the crucial identification of the underlying genetic mutation and understanding of how this leads to the wide range of symptoms and extreme variation between individuals affected that characterise the condition. This understanding is fundamental to identifying potential therapeutic targets.
Scientific research into myotonic dystrophy is at a critical stage.
It is vital to ensure that UK scientists can continue to identify and develop possible therapies, and that the UK has the capacity and infrastructure to take part in clinical trials as they emerge. The first clinical trial of a treatment targeting the underlying genetic defect is already under way in the USA (IONIS-DMPKRx), and is due to complete safety and tolerability testing by December 2016. Furthermore, the Wellcome Trust recently awarded a major grant supporting drug development to the University of Nottingham. We expect increased activity in research will follow this significant investment; so the need to be in a position to complement and capitalise on new developments will also grow. In addition, myotonic dystrophy is an exceptionally complex condition, affecting multiple functions and systems (e.g., heart, gut, brain) with symptoms that have an enormous impact on quality of life. For this condition in particular, it is therefore also important to accelerate clinical research into effective ways to better manage these symptoms.
Working with the foremost scientists researching this condition, we have identified the following key areas where further research is vitally needed:
- Basic science, building on progress already made in understanding the causes of myotonic dystrophy that will help to provide families with more precise information about their prognosis, and might identify new therapeutic targets.
- Development of novel potential treatments addressing the underlying genetic defect leading to myotonic dystrophy.
- Preparing for clinical trials, including the continued curation of the patient registry and the development of biomarkers.
We have also heard from individuals and families living with the condition (especially families of children affected by congenital myotonic dystrophy) the clear message that clinical research too is a priority – to offer more immediate improvements to quality of life through more effective management of symptoms including dangerous complications in swallowing, extreme daytime sleepiness, and potentially life-threatening cardiac issues.
Muscular Dystrophy UK is committed to achieving maximum benefit for all those affected by myotonic dystrophy, whatever their age and however severe their symptoms. To succeed, we need an approach strong and flexible enough to respond to the greatest needs and opportunities in a changing environment. To win the fight we have established the Myotonic Research Breakthrough Fund with four goals and an initial investment target of £700,000 by 2018/19.