Muscle MRI as a tool to detect glycogen in the skeletal muscles of patients with adult-onset Pompe patients
Pompe disease in adult-onset patients
Current interventions as of 11/06/2026: This is an observational study. Participants do not receive a study treatment as part of the study and are not randomised into different groups. The study has two recruitment phases: 1. Original recruitment phase, now completed This phase included 10 people with Pompe disease in the early stages of disease progression and 10 healthy volunteers matched by age and sex. People with Pompe disease attended two study visits: one at the start of the study and one after 12 months. Healthy volunteers attended one baseline visit only. Study visits included clinical assessment, muscle function tests, patient-reported questionnaires, blood sampling, and MRI scans of the legs. Muscle function tests measured strength and physical performance, such as walking, standing up, squatting, and other movements affected by Pompe disease. 2. Current extension phase This phase will recruit 5 additional people with late-onset Pompe disease who are at a middle stage of disease progression and are already receiving enzyme replacement therapy (ERT). All 5 participants will attend a baseline visit and a year 1 visit. These visits will include clinical assessment, muscle function tests, patient-reported questionnaires, blood and urine sampling, and MRI scans of the legs. Of the 5 participants, 3 will also attend an additional MRI visit 5 to 7 days after one of their usual ERT infusions. This will help the researchers explore whether muscle glycogen changes after treatment. MRI includes carbon-13 magnetic resonance spectroscopy (13C-MR spectroscopy), a specialist MRI technique used to detect glycogen in muscle. The MRI scans also measure muscle water and fat. Some participants will also have additional MRI measurements using a new larger 12 cm carbon coil, which will be compared with the previous 6 cm coil to assess whether it improves glycogen measurement in deeper muscles. Previous interventions: This study will consist of clinical assessments, collect
Updated 11/06/2026: This study has two recruitment phases. The original recruitment phase included people with Pompe disease in the early stages of disease progression and healthy volunteers matched by age and sex. This phase is now completed. The current extension phase is recruiting 5 additional people with late-onset Pompe disease. Current inclusion criteria as of 14/07/2025: Current extension phase: Five (5) patients with late-onset Pompe disease: 1. People with a diagnosis of Pompe disease, confirmed by reduced enzyme activity and/or genetic testing showing mutations in the GAA gene 2. Aged 12 years or older 3. No contraindications to MRI, meaning there is no medical or safety reason why the person cannot have an MRI scan 4. Willing to complete muscle function tests at the baseline study visit and at the year 1 visit 5. The current extension phase is focused on people with late-onset Pompe disease at a middle stage of disease progression who are already receiving enzyme replacement therapy (ERT) Healthy volunteers: Healthy volunteers are not being recruited during the current extension phase. Healthy volunteer recruitment was completed during the original recruitment phase. Original recruitment phase now completed, for information only: Ten (10) patients with late-onset Pompe disease: 1. People with a diagnosis of Pompe disease, confirmed by reduced enzyme activity and/or genetic testing showing mutations in the GAA gene 2. Aged 12 years or older 3. No contraindications to MRI 4. No symptoms of muscle weakness or mild symptoms only 5. Willing to complete muscle function tests at the first study visit and at the year 1 visit Ten (10) healthy volunteers: 1. Male and female healthy volunteers matched by age and sex with the patients with Pompe disease, aged 12 years or older. 2. No contraindications to MRI 3. Willing to complete all study assessments Previous inclusion criteria as of 05/04/2024: Patients: 1. Diagnosis of Pompe disease based on recommendatio
Current exclusion criteria as of 11/06/2026: 1. Contraindications for MRI such as having a metallic prosthesis, pacemaker or any other device that makes the completion of an MRI impossible 2. Not willing to complete all muscle function tests both at baseline and year 1 3. Having claustrophobia or other condition that could limit the capacity of the patient for being located inside the MRI 4. Inability to lie supine during less than 1 hour 5. Pregnancy (for female participants of childbearing age only) 6. Study team decision that it is not in the best interests of the patient to participate in the study Previous exclusion criteria: 1. Contraindications for MRI such as having a metallic prosthesis, pacemaker or any other device that makes the completion of an MRI impossible 2. Not willing to complete all muscle function tests both at baseline and year 1 (just patients) 3. Having claustrophobia or other condition that could limit the capacity of the patient for being located inside the MRI 4. Inability to lie supine for less than 45 min 5. Pregnancy (for female participants of childbearing age only) 6. Not being able to understand and speak English (added 17/01/2023: unless accompanied by a translator) 7. Study team decision that it is not in the best interests of the patient to participate in the study