Muscular Dystrophy UK are working alongside specialist health professionals and adults with Duchenne muscular dystrophy as part of the Adult North Star Network to improve healthcare across the UK.
To push forward this vital work, last week we announced a new £1.45mil investment into NorthStar, part of which is to employ a Research Coordinator who will work with health professionals across the UK to create a natural history database of adults with Duchenne. This will support future clinical trials and treatments for the patient group.
Dr Laura Nastasi has now been appointed to this role at the National Hospital for Neurology and Neurosurgery. Below Dr Nastasi speaks about her aims for the project and the importance of the work:
What are the aims of this project?
The purpose of this project is to develop a network of centres that look after adults with Duchenne, and produce a validated dataset to collect prospectively medical and psychosocial measures from up to 500 adult Duchenne boys across 15 centres in the UK, the largest cohort ever studied. In addition, in a smaller cohort attending two centres, it will investigate changes in new parameters over time: kidney function, retina function, bowel transit time and quality of life.
Why is this research important?
Duchenne muscular dystrophy is a rare genetic progressive disorder for which there are currently no treatments available to adults with the condition. The Paediatric North Star Network was critical in improving clinical care of children with Duchenne across the UK and demonstrated significant benefit of corticosteroid treatment in ambulant children with Duchenne.
Improvement in the standards of care and steroid treatment has increased the life expectancy of children with Duchenne, resulting in a new population of affected adults. There are no large published cohort studies evaluating the natural history of this population, and not much is known about the effect of continuing steroid treatment into adulthood.
A study by CareNMD showed that adults with Duchenne in the UK were dissatisfied with their medical care, compared with children’s services, and had poor level of independence and participation in society compared with Denmark.
Furthermore, there are no clinical trials designed for adults with Duchenne, despite there being several promising drugs under development. To be able to assess the effect of these new treatments in clinical trials in the adult population, it is critical that reliable outcome measures are established.
How will the outcomes of this research benefit people with Duchenne?
The large body of information collected from this study will provide insight into the long-term effects of continuing corticosteroid treatment in adulthood and it will improve and standardise clinical management of adult Duchenne patients across the UK. This means agreed protocols of assessment and treatment will be used no matter what centres patients attend.
Moreover, data from this comprehensive natural history study will help to choose outcome measures for clinical trials and will provide a database of patients for recruitment into trials.
In the next month Muscular Dystrophy UK will be holding an online Q&A with Dr Nastasi and Dr Ros Quinlivan, the North Star network chair, to answer your questions about the project. We will also soon be publishing draft recommendations of care for adults with Duchenne that have been produced by the group for consultation.
If you would like any more information about the adult North Star network please get in touch with Lloyd Tingley at email@example.com or on 020 7803 4804.