Study Title: PRISM: A single-centre prospective longitudinal observational cohort study of patients with Pompe disease treated with enzyme replacement therapy using muscle MRI and muscle function tests.
Status: Currently recruiting
A research group led by Prof. Jordi Díaz-Manera at the John Walton Muscular Dystrophy Research Centre in Newcastle is currently recruiting UK Pompe patients for an important study of skeletal muscles.
The aim of this study is to find out whether we can measure the amount of glycogen in muscle using a specialised type of MRI scan called carbon (13C) spectroscopy. This scan does not involve radiation and is different from standard MRI because it can provide information about the chemical content of the muscle.
We want to understand:
- Whether glycogen can be detected and measured reliably in the muscles of adults with LOPD
- How these measurements relate to muscle strength, physical function and breathing tests
- How muscle measurements change over time
Participants in this study are already receiving licensed ERT as part of their usual care. The study does not change, assign or compare treatments in any way. Treatment decisions remain entirely between you and your clinical team.
The information from this research may help improve how we monitor muscle changes in Pompe disease in the future.
All travel and hotel costs will be reimbursed.
If you, or a family member would like to be considered for this study, please contact us at hello@pompe.uk and we will put you in touch with the research team.