PRISM Study: MRI & 13C-Spectroscopy in Late-Onset Pompe Disease
Research type
Research Study
Full 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.
IRAS ID
370049
Contact name
Jordi Diaz-Manera
Contact email
Sponsor organisation
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Clinicaltrials.gov Identifier
NU-017974, Newcastle University
Duration of Study in the UK
2 years, 6 months, 15 days
Research summary
Pompe disease is a rare inherited condition in which the body cannot properly break down glycogen, a form of stored sugar used for energy. As glycogen accumulates inside muscle cells it gradually damages skeletal and breathing muscles, leading to progressive weakness. Adults with late-onset Pompe disease (LOPD) are usually treated with enzyme replacement therapy (ERT), which is provided as part of routine clinical care. However, despite treatment, some individuals continue to experience gradual muscle deterioration. Improved methods are needed to monitor changes in muscle structure and glycogen levels over time.
The PRISM study will investigate muscle changes in adults with LOPD using advanced magnetic resonance imaging (MRI). In addition to standard MRI measures of muscle structure and fat replacement, the study will use carbon-13 magnetic resonance spectroscopy (13C-MRS), a non-invasive imaging technique that measures glycogen stored within muscle tissue.
Before the main study begins, a small preliminary investigation will be performed in three adults with LOPD. This step will examine whether glycogen measurements change during the two-week cycle between ERT infusions. Participants will undergo MRI scans at three time points after treatment (1, 7 and 14 days) to determine the most appropriate timing for MRI scans in the main study.
The main observational study will follow up to 30 adults with LOPD over two years. Participants will attend visits at baseline, 12 months and 24 months for MRI scans, muscle strength and functional assessments, breathing tests and questionnaires. Blood and urine samples will also be collected and stored in the JWMDRC Biobank for future research. Ten healthy volunteers will attend a single baseline visit to provide reference measurements.
The study will take place at The Newcastle upon Tyne Hospitals NHS Foundation Trust and is funded by Amicus Therapeutics. The research will not alter participants’ clinical treatment.REC name
West Midlands - South Birmingham Research Ethics Committee
REC reference
26/WM/0118
Date of REC Opinion
2 Jun 2026
REC opinion
Favourable Opinion