On Saturday 2 June, we held our Duchenne Information Day at the Wellcome Collection in London. Families came together to listen to and question experts about the support available for people living with Duchenne muscular dystrophy. Thank you to everyone who attended and made it such a positive day. We have pulled together a summary of some of the discussions and information shared on the day.
Muscular Dystrophy UK’s work
Director of Campaigns, Care and Information, Nic Bungay, spoke of the Muscular Dystrophy UK’s commitment to accelerating the pace in development of effective treatments for Duchenne. Thanks to the Duchenne Research Breakthrough Fund we have been able to support a range of research projects. We know that we are now at a critical stage with many clinical trials in development and several treatments either available or emerging on the horizon. This is why we launched our FastTrack to treatments campaign at the end of 2017 which is focused on removing the barriers that currently cause delays in people being able to access new and effective treatments. We are also working hard to ensure that specialist neuromuscular centres have the necessary capacity to deliver trials and treatments. As such, we are pleased that there are now over 60 neuromuscular care advisors across the UK to offer advice and support for people with muscle wasting conditions.
Research and treatments
Muscular Dystrophy UK is proud to have played a role in laying the foundations for the exon skipping technology and utrophin upregulation approach, now being taken forward by pharmaceutical companies into clinical trial. At the event, we heard from Professor Dame Kay Davies, Summit therapeutics and Sapreta therapeutics about the latest developments in research and treatments for Duchenne.
Professor Davies and Summit shared the latest findings from their work around utorphin modulation. Utrophin is a protein similar to dystrophin. Research suggests that increasing the level of utrophin can compensate for the loss of dystrophin. Unlike other treatments, utorphin modulation is not mutation specific and has the potential to slow or stabilize disease progression in all patients with Duchenne. Summit are nearing the end of their 48 week PhaseOut DMD trial which is showing positive results. You can find out the latest updates about their work here.
Sarepta gave an update about their clinical pipeline including the latest news on their exon-skipping treatments and their collaborations around gene therapy and editing. Disappointingly, their treatment, eteplirsen (also known as Exondys 51) recently received a negative vote by the Committee for Medicinal Products for Human Use. This was a huge blow for families as the treatment was due to be assessed for use on the NHS by National Institute for Health and Care Excellence (NICE) this Summer. Now, the European Medicines Agency’s decision not to grant a licence will push this back by several months. Meanwhile, Golodirsen (exon 53) and Casimersen (exon 45) are in Phase 3 of trials. Muscular Dystrophy UK are organising an urgent roundtable meeting with scientists, families and regulators to discuss the way forward for exon-skipping treatments.
Demelza Stuart, who is an Occupational Therapist and also works for Muscular Dystrophy UK as an Advocacy and information Officer, led a session around adaptations. During the session Demelza talked through the practicalities of getting adaptations made to your home and the various pots of funding available to support this. Given the progressive nature of Duchenne it was noted that it is important that any adaptations assessment takes the individuals current and future needs into consideration in order to future proof.
If you are thinking about adaptations we strongly encourage you to look at Muscular Dystrophy UK’s comprehensive adaptations manual. We also have funding available via the Joseph Patrick Trust which is a welfare fund that provides grants towards the costs of specialist equipment such as powered wheelchairs, adapted computers and electric beds, for children and adults with muscle-wasting conditions.
To end the day Dr Jatin Pattni, Clinical Psychologist, ran a workshop around psychological support. We know that getting a diagnosis of Duchenne can cause various emotional reactions from different people. Some people could benefit from psychological support. Dr Pattni talked about the merits of accessing psychological support at key moments of change in life and/or health. However, accessing treatments relies on people being able to identify their problem and find the appropriate support for them. We are often told by individuals and families affected by muscle-wasting conditions, as well as health professionals, that there is a lack of emotional and psychological support available to improve people’s quality of life. This is why we recently held a Parliamentary Inquiry to look at access to psychological support and will be launching a report later this year. Find out about the work Muscular Dystrophy UK are doing to improve access to psychological support as part of our Mental health matters project.
For more information
Contact Clare Lucas on firstname.lastname@example.org or call 020 7803 4838.