Carbon spectroscopy MRI: a non-invasive tool to detect late-onset Pompe disease (LOPD)
- Conditions
- Pompe disease in adult-onset patientsNutritional, Metabolic, EndocrineGlycogen storage disease
- Registration Number
- ISRCTN11241741
- Lead Sponsor
- ewcastle upon Tyne Hospitals NHS Foundation Trust
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Ongoing
- Sex
- All
- Target Recruitment
- 20
Current participant 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 participant 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
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
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Glycogen measured using 13C spectroscopy for patients and controls at baseline and at the 12-month visit for patients only
- Secondary Outcome Measures
Name Time Method 1. Water accumulation measured using water T2 sequence at baseline for patients and controls and at the 12-month visit for patients only<br>2. Muscle function measured using muscle strength and performance tests at baseline for patients and controls and at 12 months for patients only