bioMD Version 1.0
Research type
Research Study
Full title
Determining novel biomarkers for dystrophin linked muscular dystrophies and the viability of supplementation therapies
IRAS ID
296141
Contact name
Mathew Piasecki
Contact email
Sponsor organisation
University of Nottingham
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder characterised by progressive muscle degeneration and weakness. It is caused by mutations in the gene that encodes for dystrophin, resulting in a decrease of functional dystrophin protein in muscle cells and neurones. Becker muscular dystrophy (BMD) is a less severe form of DMD and limb-girdle muscular dystrophy (LGMD) is another muscle wasting disorder. Despite great improvements in the field, these disorders are largely under studied and thus treatment options are limited. The main treatment is the use of corticosteroids. Steroids have been shown to improve muscle function and strength in several studies, however the best dosage and frequency of use has not been fully determined. Long-term corticosteroid treatment (> 3 years) has been demonstrated to extend the time to loss of ambulation and to increase life expectancy. However, prolonged use is associated with side effects such as weight gain, osteoporosis, high blood pressure and behaviour changes. In some patients, prolonged use has led to muscle weakness and atrophy, going against the intended benefits of the treatment. Given that corticosteroids are not a cure for the disease and are associated with many undesirable side effects, there is a big push in research to find a cure and/or to identify alternate therapies to corticosteroids. We have previously shown that hydrogen sulfide supplementation and NAD+ supplementation in the C. elegans worm model for DMD is able to improve clinically relevant phenotypes such as movement and muscle strength. Additionally, DMD shares some similarities with those of accelerated ageing and H2S and NAD+ have been shown to decline with age. We therefore intend to establish if there is a decline in these parameters in DMD patients using a single blood draw, thereby providing a foundation for future use as biomarkers, and/or providing an interventional target for supplementation as a viable treatment.
REC name
West of Scotland REC 5
REC reference
21/WS/0051
Date of REC Opinion
12 May 2021
REC opinion
Further Information Favourable Opinion