Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease

Conditions

• Pompe Disease (Late-onset)
• Inclusion Body Myositis
• Spinal Muscular Atrophy Type 3
• FSHD

Interventions

• DIAGNOSTIC_TEST: Beck depression inventory fast screen (Questionnaire)
• DIAGNOSTIC_TEST: Brief Pain Inventory (BPI) (Questionnaire)
• DIAGNOSTIC_TEST: German Pain Inventory (Questionnaire)
• DIAGNOSTIC_TEST: Fatigue Severity and Disability Scale (FSS) (Questionnaire)
• DIAGNOSTIC_TEST: Rotterdam Handicap Scale (RHS) (Questionnaire)
• DIAGNOSTIC_TEST: R-PAct (Questionnaire)
• DIAGNOSTIC_TEST: Quick Motor Function Test
• DIAGNOSTIC_TEST: Handheld Dynamometry (HHD)
• DIAGNOSTIC_TEST: Six-minute walk test (6MWT)
• DIAGNOSTIC_TEST: Pressure pain threshold
• DIAGNOSTIC_TEST: Muscle ultrasound
• DIAGNOSTIC_TEST: Vital signs
• DIAGNOSTIC_TEST: Borg Scale
• DIAGNOSTIC_TEST: Laboratory assessment: Creatine kinase
• DIAGNOSTIC_TEST: Laboratory assessment: Vitamin D Level
• DIAGNOSTIC_TEST: Laboratory assessment: calcium
• DIAGNOSTIC_TEST: Laboratory assessment: magnesium
• DIAGNOSTIC_TEST: Laboratory assessment: phosphate
• GENETIC: Genetic test: ACE polymorphism
• GENETIC: Genetic test: ACTN3 polymorphism

Sponsor

LMU Klinikum