Muscle MRI in Pompe disease
Research type
Research Study
Full title
Muscle MRI as a tool to detect glycogen in skeletal muscles of patients with adult onset Pompe patients
IRAS ID
305745
Contact name
Jordi Díaz-Manera
Contact email
Sponsor organisation
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Duration of Study in the UK
1 years, 9 months, 29 days
Research summary
Muscle MRI has become a useful tool to study patients with muscle disorders. There are at present several imaging sequences that allow the study of different components of the muscle degeneration process. This is a single centre observational study that aims to assess 20 participants, 10 Pompe Disease and 10 Healthy Controls to study if glycogen, the sugar that is being accumulated in the muscles, can be detected and quantified using a new imaging tool known as muscle magnetic resonance, specifically using carbon spectroscopy. If so, this imaging technique could be useful for diagnosing patients with Pompe disease, monitoring disease’s progression and understanding if increases in glycogen in the muscle worsens muscle function and could be therefore used as an indicator to start treatment. We are aiming as well to monitor response to enzymatic replacement therapy and other potential drugs in the future aiming to reduce the amount of glycogen in the muscles. The study will pave the way for future studies of ERT & other drugs, and ERT / drug efficacy measurements are not part of the proposed study. The study will involve 2 visits for the the Pompe disease, one at baseline and another one after 12 months and only one visit at baseline for the healthy control participants.
REC name
Yorkshire & The Humber - Leeds West Research Ethics Committee
REC reference
21/YH/0297
Date of REC Opinion
24 Jan 2022
REC opinion
Further Information Favourable Opinion