Pompe disease in adult-onset patients Nutritional, Metabolic, Endocrine Glycogen storage disease
Conditions
Interventions
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
Sponsors
Newcastle upon Tyne Hospitals NHS Foundation Trust
Eligibility
Sex/Gender
All
Age
12 Years to 120 Years
Inclusion criteria
Inclusion criteria: 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 recommendations recently proposed by the European Pompe Consortium: reduced enzymatic activity in leukocytes, fibroblasts or skeletal muscle and/or by the presence of two mutations in the GAA gene following the diagnostic 2. Aged 12 years and older 3. No contraindications to MRI 4. No symptoms of muscle weakness or mild symptoms 5. Willingness to complete all muscle function tests at baseline and year 1 visit Healthy controls: 1. Male and female age-matched with the patients (12 years and older) 2. No contraindications to MRI 3. Willingness to complete all study assessments Previous inclusion criteria: Patients: 1. Diagnosis of Pompe disease based on recommendations recently proposed by the European Pompe Consortium: reduced enzymatic activity in leukocytes, fibroblasts or skeletal muscle and/or by the presence of two mutations in the GAA gene following the diagnostic 2. Aged 12 years and older 3. No contraindications to MRI 4. No symptoms of muscle weakness or mild symptoms. Patients should score higher than 30 points on the RPact scale 5. Willingness to complete all muscle function tests at baseline and year 1 visit Healthy controls: 1. Male and female age-matched with the patients (12 years and older) 2. No contraindications to MRI 3. Willingness to complete all study assessments
Exclusion criteria
Exclusion criteria: 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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Current primary outcomes as of 11/06/2026: Skeletal muscle glycogen content measured using carbon-13 magnetic resonance spectroscopy (13C-MR spectroscopy) during MRI scans of the thighs, at baseline in people with Pompe disease and healthy volunteers, and at the 12-month visit in people with Pompe disease only Previous primary outcomes: Glycogen measured using 13C spectroscopy for patients and controls at baseline and at the 12-month visit for patients only | — |
Secondary
| Measure | Time frame |
|---|---|
| Current secondary outcomes as of 11/06/2026: 1. Differences in glycogen distribution between anterior and posterior thigh muscles, assessed using 13C-MR spectroscopy at all the same timepoints used to measure skeletal muscle glycogen content, in people with Pompe disease and healthy volunteers 2. Short-term change in skeletal muscle glycogen content, measured using 13C-MR spectroscopy, before and 5 -7 days after usual enzyme replacement therapy (ERT) infusion in the subgroup of 3 ERT-treated participants 3. Performance and reproducibility of the new 12 cm carbon-13 coil compared with the existing 6 cm carbon-13 coil for measuring skeletal muscle glycogen content, assessed by comparing paired 13C-MR spectroscopy measurements acquired with both coils during the same baseline/pre-infusion MRI visit in the subgroup of 3 ERT-treated participants 4. Muscle water T2 measured using MRI at baseline in people with Pompe disease and healthy volunteers, and at the 12-month visit in people with Pompe disease only 5. Muscle function measured using muscle strength and muscle performance tests at baseline in people with Pompe disease and healthy volunteers and at the 12-month visit in people with Pompe disease only Previous secondary outcomes: 1. Water accumulation measured using water T2 sequence at baseline for patients and controls and at the 12-month visit for patients only 2. Muscle function measured using muscle strength and performance tests at baseline for patients and controls and at 12 months for patients only | — |
Countries
England, United Kingdom
Contacts
Public ContactAlejandro Gonzalez Chamorro
Outcome results
None listed