Muscle MRI as a tool to detect glycogen in the skeletal muscles of patients with adult-onset Pompe patients

ewcastle upon Tyne Hospitals NHS Foundation Trust0 个研究点目标入组 20 人开始时间: 2022年7月7日最近更新: 2024年4月15日

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•Current participant inclusion criteria as of 05/04/2024:
•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:
•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

发起方

ewcastle upon Tyne Hospitals NHS Foundation Trust