RecruitingObservational

Carbon spectroscopy MRI: a non-invasive tool to detect late-onset Pompe disease (LOPD)

Pompe disease is a rare genetic condition where the body cannot properly break down a stored sugar called glycogen, causing it to build up inside muscles and cause weakness. Currently, checking glycogen levels usually requires a muscle biopsy, which involves taking a small sample of muscle tissue with a needle or small cut. This study, based in Newcastle, is testing a special MRI technique called carbon-13 MR spectroscopy. This scan aims to measure glycogen levels inside leg muscles safely and completely from the outside. Researchers are currently recruiting five people aged 12 or older with late-onset Pompe disease who are already receiving enzyme replacement therapy (ERT). Participants attend visits over one year to have scans, simple movement tests, and blood and urine samples taken. The study does not provide new medications, and travel expenses are covered.

At a glance

Status

Recruiting

Sponsor

Newcastle upon Tyne Hospitals NHS Foundation Trust

Enrolment target

Start

01 Jun 2022

Estimated completion

31 Dec 2027

Pompe disease in adult-onset patients

What is this study about?

Pompe disease is caused by a faulty gene that prevents the body from making enough of a vital enzyme. Without this enzyme, a complex sugar called glycogen builds up inside muscle cells. Over time, this build-up damages muscles, leading to mobility difficulties, extreme tiredness, and breathing problems. While modern enzyme replacement therapy (ERT) helps manage symptoms, doctors lack a gentle, routine way to see how much glycogen remains trapped inside a patient's muscles.

At present, measuring muscle glycogen directly requires a muscle biopsy. This is a surgical procedure that involves numbing an area and removing a small piece of muscle, which can cause soreness and cannot be done frequently. This study is exploring a cutting-edge type of MRI scan called carbon-13 magnetic resonance spectroscopy. It works like a standard hospital MRI scanner but is tuned to detect carbon signals from glycogen, allowing researchers to 'see' inside the muscle without any needles or cuts.

By taking detailed pictures of muscle sugar, water, and fat, the research team wants to find out if scan results closely match a person's everyday strength and walking ability. If successful, this scanning method could give doctors a powerful, non-invasive tool to track disease progression and check whether treatments are working effectively.

Key takeaways

Researchers are testing a painless MRI scan to measure muscle sugar in Pompe disease.
The goal is to replace invasive muscle biopsies with safe, non-invasive imaging.
The study is currently recruiting 5 people aged 12+ who are already receiving enzyme replacement therapy.
Participation involves two main visits over 12 months in Newcastle, with leg scans and physical tests.
Travel and meal costs are reimbursed for both the participant and a companion.

Who may be eligible?

The study is currently in an extension phase and is looking for five people aged 12 years or older who have a confirmed diagnosis of late-onset Pompe disease. To take part in this phase, participants must be at a middle stage of the condition and already be receiving regular enzyme replacement therapy (ERT).

Participants must be able to safely undergo an MRI scan. This means you cannot take part if you have certain metal implants, pacemakers, or devices in your body that are unsafe near strong magnets. You also need to be willing to perform simple physical movements, such as walking and standing tests.

Healthy volunteers are not needed for this part of the study, as the healthy comparison group has already been completed.

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.

I have a confirmed diagnosis of late-onset Pompe disease.
I am 12 years of age or older.
I am currently receiving enzyme replacement therapy (ERT).
I am at a middle stage of disease progression.
I can safely have an MRI scan (no incompatible metal implants or pacemakers).
I am willing and able to travel to Newcastle for study visits.

Answer every question to see your result.

What does participation involve?

Taking part involves attending study appointments at the Newcastle Magnetic Resonance Centre and the Royal Victoria Infirmary in Newcastle over the course of one year. Because this is an observational study, you will not receive any experimental drugs, and your usual Pompe medications will continue as normal.

Participants will attend a baseline visit at the start and a follow-up visit 12 months later. During these visits, the research team will carry out physical checks, ask you to fill in quality-of-life questionnaires, and collect routine blood and urine samples. You will also perform simple movement tests to measure muscle strength, such as walking, getting up from a chair, and gentle squats. In addition, you will have specialist MRI scans of your legs.

Three of the five participants will also be asked to attend one extra MRI scan around 5 to 7 days after one of their usual ERT infusions. This helps researchers see whether glycogen levels change shortly after treatment. Travel and meal expenses for you and a companion will be paid for.

Potential risks and benefits

There is no direct medical benefit to your health from joining this study, but your participation could help develop better, gentler diagnostic tools for people with Pompe disease in the future. MRI scans do not use radiation and are considered very safe, though the machine can be noisy and the tunnel may feel confined. Blood tests may cause brief stinging or slight bruising. The movement tests may make you feel temporarily tired, but they are carried out safely with trained staff. You are free to stop any test or leave the study at any time without it affecting your usual NHS care.

Locations (4)

The Newcastle upon Tyne Hospitals NHS Foundation Trust
City only
Newcastle upon Tyne, England
The John Walton Muscular Dystrophy Research Centre
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 treatment?

No. This is an observational study, meaning researchers are only observing and taking measurements. You will stay on your current enzyme replacement therapy as prescribed by your regular doctor.

Is the carbon MRI scan painful?

No. The scan is completely painless and non-invasive. You simply lie still on the scanner bed while the machine takes pictures of your leg muscles.

Where does the study take place?

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

Are my travel costs covered?

Yes. Reasonable travel and meal expenses will be reimbursed for you and one accompanying person.

Can I leave the study if I change my mind?

Yes. Taking part is entirely voluntary. You can withdraw at any point, and your normal medical care will not be affected in any way.

How to find out more

Alejandro Gonzalez Chamorro

alejandro.gonzalez-chamorro@newcastle.ac.uk +44 (0)191 241 8652 Official trial record

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