Effects of exercise on Pompe disease_Version 1
Research type
Research Study
Full title
A pilot study to investigate the effect of aerobic exercise training in adults with Pompe disease
IRAS ID
115267
Contact name
Elaine Murphy
Contact email
Sponsor organisation
UCLH NHS Trust
Duration of Study in the UK
1 years, 6 months, 5 days
Research summary
Pompe disease is a lysosomal storage disorder (LSD) in which glycogen accumulates in tissue cells due to an enzyme deficiency. Build-up of glycogen causes significant muscle weakness and has a negative effect on the respiratory system. Our research will focus on those patients with late-onset Pompe disease.
Currently patients are treated with enzyme replacement therapy (ERT) which has been shown to reduce the speed at which muscle deteriorates. There is further evidence to suggest that exercise can have positive effect on increasing muscle strength in patients with LSD.
It is recommended that exercise is performed at sub-maximal (60-70% capacity) level and the type of exercise being performed is prescribed and monitored by a physiotherapist. However, clinicians are often cautious in their approach to exercise in LSD and at present patients have variable access to physiotherapy services across the UK.
It has been recognised by specialist centres for Pompe disease that there is an interest in exercise within the Pompe community. At present there is no standardised approach to exercise and supporting evidence is limited.
The research team plan to study the effects of home based aerobic exercises on muscle and respiratory function, mobility and strength. We will also investigate the effect of cycling whilst receiving ERT.
Participants will complete the initial, 3 month and final assessments and exercise testing at designated specialist centres in the UK. The participants will be enrolled for 6 months and following the collection and analysis of the study results, the research team intend to develop and publish guidelines for clinicians, patients and their families regarding the role of exercise in the management of Pompe disease. We also aim to publish the results in an appropriate peer-reviewed journal.
REC name
London - Surrey Borders Research Ethics Committee
REC reference
15/LO/0952
Date of REC Opinion
25 Jun 2015
REC opinion
Further Information Favourable Opinion