RecruitingObservational

Using advanced MRI scans and muscle function tests to study muscle changes in adults with Pompe disease receiving enzyme replacement therapy

Pompe disease is a rare genetic condition where a type of sugar called glycogen builds up in muscles, making them weak over time. People with late-onset Pompe disease often receive enzyme replacement therapy to help manage this. The PRISM study aims to find out if special MRI scans can clearly show how muscles change and measure this stored sugar over time. The study takes place in Newcastle upon Tyne over two years. Researchers will invite adults with Pompe disease who are already receiving routine NHS enzyme treatment, as well as healthy adult volunteers. Taking part involves thigh MRI scans, simple strength and walking tests, breathing checks, and blood and urine samples. This observational study will not change, stop, or replace your usual medical care. The findings may help doctors better understand Pompe disease and improve how muscle health is monitored in the future.

At a glance

Status

Recruiting

Sponsor

Newcastle upon Tyne Hospitals NHS Foundation Trust

Enrolment target

Start

09 Sep 2026

Estimated completion

31 Dec 2028

Pompe disease

What is this study about?

Pompe disease is a rare inherited condition. It happens when the body lacks an enzyme needed to break down a stored sugar called glycogen. As glycogen builds up inside muscle cells, it can cause progressive muscle weakness, mobility problems, and breathing difficulties. Many adults with late-onset Pompe disease receive regular enzyme replacement therapy through the NHS to help protect their muscles.

The PRISM study is exploring better ways to check how well muscles are doing over time. At present, it can be hard to know precisely how much sugar remains trapped in the muscles and how this links to physical strength. Researchers in Newcastle upon Tyne want to see if advanced MRI scans—including a specialist scan that measures muscle sugar—can track these changes accurately.

This is an observational study, which means it does not test a new medicine or alter your regular care. Instead, it compares the scan results and physical abilities of people living with Pompe disease to healthy volunteers of similar ages. By doing this, the research team hopes to learn what healthy muscle looks like compared to muscle affected by Pompe disease.

Ultimately, this work matters because finding clear, painless ways to track muscle health could help doctors judge how well treatments are working in everyday practice and guide future clinical trials for new therapies.

Key takeaways

The PRISM study investigates advanced MRI scans to monitor muscle changes in late-onset Pompe disease.
Your routine NHS treatment and enzyme replacement therapy will not be changed or stopped.
Adults with Pompe disease will attend three clinic visits in Newcastle upon Tyne over two years.
Healthy adult volunteers are also needed for a single study visit to provide comparison data.
Taking part is completely voluntary and you are free to stop at any time.

Who may be eligible?

You may be able to join the study if you are 18 or older and can walk, either on your own or with walking aids like a stick. If you have late-onset Pompe disease, you must have an official diagnosis, have developed symptoms after age two, and already receive approved enzyme replacement therapy as part of your normal care. You also need enough thigh muscle strength to perform the study movements.

The study is also looking for healthy adult volunteers without Pompe disease to act as a comparison group. These volunteers will be matched by age and sex to participants with the condition.

You cannot take part if you cannot have an MRI scan. This includes having certain metal implants, a pacemaker, severe claustrophobia, or being unable to lie flat on your back for up to an hour. The study is also not suitable for anyone who is pregnant or unable to give informed consent.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you aged 18 or older?
Can you walk independently or with a walking aid?
Do you have a diagnosis of late-onset Pompe disease and currently receive enzyme replacement therapy, OR are you a healthy volunteer?
Are you able to lie comfortably flat on your back for up to an hour?
Are you free of metal implants, pacemakers, or severe claustrophobia that would prevent an MRI scan?
Can you travel to Newcastle upon Tyne for study visits?

Answer every question to see your result.

What does participation involve?

If you have Pompe disease, taking part involves three main visits over two years to clinics in Newcastle upon Tyne: one at the start, one after a year, and one after two years. Healthy volunteers will only need to attend a single visit. A small number of participants may be invited to have extra scans before and after a routine enzyme infusion to see if scan timing matters.

During visits, you will have an MRI scan of your thigh muscles. You will also do standard muscle strength checks, walking tests, and breathing tests, as well as fill out short questionnaires about your daily life. The team will take routine blood and urine samples and review your medical history.

Taking part will not change your regular medication or hospital appointments. All treatment choices remain strictly between you and your NHS doctor, and you can leave the study at any point without it affecting your medical care.

Potential risks and benefits

Taking part in this study will not provide you with direct medical benefits, but your participation could help improve future monitoring and care for people living with Pompe disease. The tests carry very few risks. MRI scans do not use radiation, but the machine can be noisy and the space is confined, which some people find claustrophobic. Giving blood samples might cause mild soreness or bruising. Physical and walking tests can make you feel tired, but the team will give you plenty of rests. You are completely free to leave the study at any time without giving a reason, and your normal healthcare will never be affected.

Locations (4)

The John Walton Muscular Dystrophy Research Centre
City only
Newcastle upon Tyne, England
The Newcastle upon Tyne Hospitals NHS Foundation Trust
City only
Newcastle upon Tyne, England
Newcastle Magnetic Resonance Centre
Approximate
Newcastle upon Tyne, England
NIHR Newcastle Clinical Research Facility
City only
Newcastle upon Tyne, England

Common questions

Will taking part change my usual Pompe disease medication?

No. The study is purely observational. You will continue taking your normal enzyme replacement therapy exactly as prescribed by your regular NHS specialist.

Are the MRI scans painful or dangerous?

No. MRI scans use magnetic fields rather than X-rays or radiation, so they are safe and painless. You will need to lie still, and the scanner makes loud tapping noises, but you can speak to the team at any time.

Where do I have to travel for the study visits?

All study visits take place in Newcastle upon Tyne, split between the Newcastle Magnetic Resonance Centre and the Royal Victoria Infirmary.

Do I have to pay to take part?

No. You will not be charged to take part in the study. You can ask the research team if help with travel expenses is available.

Can I leave the study if I change my mind?

Yes. Taking part is entirely voluntary. You can withdraw at any time without having to give an explanation, and your routine NHS care will continue as normal.

How to find out more

Alejandro Gonzalez Chamorro

alejandro.gonzalez-chamorro@newcastle.ac.uk +44 (0)7776468270 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.