Study: NCT05272969

Intervention type: DIAGNOSTIC_TEST
Intervention: Beck depression inventory fast screen (Questionnaire)
Description: Beck depression inventory fast screen questionnaire to detect severe depression for eligibility.

Intervention type: DIAGNOSTIC_TEST
Intervention: Beck depression inventory fast screen (Questionnaire)
Description: Beck depression inventory fast screen questionnaire to detect severe depression for eligibility.

Intervention type: DIAGNOSTIC_TEST
Intervention: Brief Pain Inventory (BPI) (Questionnaire)
Description: Validated questionnaire for pain.

Intervention type: DIAGNOSTIC_TEST
Intervention: Brief Pain Inventory (BPI) (Questionnaire)
Description: Validated questionnaire for pain.

Intervention type: DIAGNOSTIC_TEST
Intervention: German Pain Inventory (Questionnaire)
Description: German Pain Inventory questionnaire for evaluation of pain. Module A, abbreviated questions of module S (sociodemographic questions S1, S2, S3, S4, S5 and S8) and module L (quality of life) and V (therapies) will be used.

Intervention type: DIAGNOSTIC_TEST
Intervention: German Pain Inventory (Questionnaire)
Description: German Pain Inventory questionnaire for evaluation of pain. Module A, abbreviated questions of module S (sociodemographic questions S1, S2, S3, S4, S5 and S8) and module L (quality of life) and V (therapies) will be used.

Intervention type: DIAGNOSTIC_TEST
Intervention: Fatigue Severity and Disability Scale (FSS) (Questionnaire)
Description: Validated questionnaire for perceived fatigue

Intervention type: DIAGNOSTIC_TEST
Intervention: Fatigue Severity and Disability Scale (FSS) (Questionnaire)
Description: Validated questionnaire for perceived fatigue

Intervention type: DIAGNOSTIC_TEST
Intervention: Rotterdam Handicap Scale (RHS) (Questionnaire)
Description: validated questionnaire to assess a patient's functional ability and level of handicap

Intervention type: DIAGNOSTIC_TEST
Intervention: Rotterdam Handicap Scale (RHS) (Questionnaire)
Description: validated questionnaire to assess a patient's functional ability and level of handicap

Intervention type: DIAGNOSTIC_TEST
Intervention: R-PAct (Questionnaire)
Description: The R-PAct scale is designed specifically for Pompe disease, which consists of 18 items addressing daily life activities with three response options.

Intervention type: DIAGNOSTIC_TEST
Intervention: R-PAct (Questionnaire)
Description: The R-PAct scale is designed specifically for Pompe disease, which consists of 18 items addressing daily life activities with three response options.

Intervention type: DIAGNOSTIC_TEST
Intervention: Quick Motor Function Test
Description: An evaluator observes the performance of a patient and scores the items separately on a 5-point ordinal scale (ranging from 0 to 4). A total score is obtained by adding the scores of all items and ranges between 0 and 64 points.

Intervention type: DIAGNOSTIC_TEST
Intervention: Quick Motor Function Test
Description: An evaluator observes the performance of a patient and scores the items separately on a 5-point ordinal scale (ranging from 0 to 4). A total score is obtained by adding the scores of all items and ranges between 0 and 64 points.

Intervention type: DIAGNOSTIC_TEST
Intervention: Handheld Dynamometry (HHD)
Description: To ensure a high level of objective measurement, muscle strength will also be assessed by handheld dynamometry. The following muscle groups will be tested: Arm abduction, elbow flexion, elbow extension, hip flexion, hip extension, knee extension, knee flexion, foot extension, foot flexion.

Intervention type: DIAGNOSTIC_TEST
Intervention: Handheld Dynamometry (HHD)
Description: To ensure a high level of objective measurement, muscle strength will also be assessed by handheld dynamometry. The following muscle groups will be tested: Arm abduction, elbow flexion, elbow extension, hip flexion, hip extension, knee extension, knee flexion, foot extension, foot flexion.

Intervention type: DIAGNOSTIC_TEST
Intervention: Six-minute walk test (6MWT)
Description: It is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered over a time of 6 minutes is used as the outcome by which to compare changes in performance capacity. If a six-minute-walk-test was performed within the last 3 months within the routine treatment, no additional test will be performed and the distance walked in meters as well as borg scale will be recorded in the study CRF, including the date of the assessment. If not performed within the last six months, a six-minute-walk test will be performed once.

Intervention type: DIAGNOSTIC_TEST
Intervention: Six-minute walk test (6MWT)
Description: It is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered over a time of 6 minutes is used as the outcome by which to compare changes in performance capacity. If a six-minute-walk-test was performed within the last 3 months within the routine treatment, no additional test will be performed and the distance walked in meters as well as borg scale will be recorded in the study CRF, including the date of the assessment. If not performed within the last six months, a six-minute-walk test will be performed once.

Intervention type: DIAGNOSTIC_TEST
Intervention: Pressure pain threshold
Description: For diagnosis of myofascial pain, pressure algometers are designed and conventionally used to measure deep pressure pain thresholds or tenderness resistance (Park, Kim et al. 2011), and the reliability of pressure pain thresholds according to raters or measurement frequencies has been proven to be relatively high (Chung, Um et al. 1992). The threshold is then determined as the arithmetic mean of the 3 series (in kPa). The measurement will be stopped immediately as the patient feels sensations of burning, stinging, drilling or aching. Pressure algometry measurements will be performed on the trapezius, deltoid and supraspinatus muscles, the rectus femoris muscles, and the tibialis anterior muscles.

Intervention type: DIAGNOSTIC_TEST
Intervention: Pressure pain threshold
Description: For diagnosis of myofascial pain, pressure algometers are designed and conventionally used to measure deep pressure pain thresholds or tenderness resistance (Park, Kim et al. 2011), and the reliability of pressure pain thresholds according to raters or measurement frequencies has been proven to be relatively high (Chung, Um et al. 1992). The threshold is then determined as the arithmetic mean of the 3 series (in kPa). The measurement will be stopped immediately as the patient feels sensations of burning, stinging, drilling or aching. Pressure algometry measurements will be performed on the trapezius, deltoid and supraspinatus muscles, the rectus femoris muscles, and the tibialis anterior muscles.

Intervention type: DIAGNOSTIC_TEST
Intervention: Muscle ultrasound
Description: Muscle ultrasound is an ideal imaging modality that allows for atraumatic, noninvasive, radiation-free point-of-care neuromuscular imaging. Muscular diseases are typically associated with an increase in the echogenicity from the muscle substance, distal attenuation of muscle echo and a corresponding loss of bone echo. A measurement on both sides deltoid, biceps and triceps brachii muscle, quadriceps femoris muscle, tibialis anterior muscle, rectus abdominis muscle and paravertebral muscles of cervical (C5-7), thoracic (Th4-6) and lumbar (L4-5) muscles. Muscle tissue alterations will be classified using the Heckmatt scale I-IV, describing muscle echogenicity. For muscle ultrasound, a linear 17MHz probe will be used. The muscle ultrasound assessment usually takes 15-20 minutes.

Intervention type: DIAGNOSTIC_TEST
Intervention: Muscle ultrasound
Description: Muscle ultrasound is an ideal imaging modality that allows for atraumatic, noninvasive, radiation-free point-of-care neuromuscular imaging. Muscular diseases are typically associated with an increase in the echogenicity from the muscle substance, distal attenuation of muscle echo and a corresponding loss of bone echo. A measurement on both sides deltoid, biceps and triceps brachii muscle, quadriceps femoris muscle, tibialis anterior muscle, rectus abdominis muscle and paravertebral muscles of cervical (C5-7), thoracic (Th4-6) and lumbar (L4-5) muscles. Muscle tissue alterations will be classified using the Heckmatt scale I-IV, describing muscle echogenicity. For muscle ultrasound, a linear 17MHz probe will be used. The muscle ultrasound assessment usually takes 15-20 minutes.

Intervention type: DIAGNOSTIC_TEST
Intervention: Vital signs
Description: Vital signs (blood pressure, heart rate, respiratory rate) will be measured before and after the six-Minute-Walk-Test (6MWT).

Intervention type: DIAGNOSTIC_TEST
Intervention: Vital signs
Description: Vital signs (blood pressure, heart rate, respiratory rate) will be measured before and after the six-Minute-Walk-Test (6MWT).

Intervention type: DIAGNOSTIC_TEST
Intervention: Borg Scale
Description: The Borg scale will be assessed, which is a self-reported questionnaire designed to subjectively assess dyspnea and exertion during activity (Borg 1982). The Borg scale rates dyspnea on a scale of 0 to 10 incorporating nonlinear spacing of verbal descriptors of the level of intensity of dyspnea. A higher Borg score indicates more severe dyspnea. The Borg scale will be administered before starting the 6MWT (≤ 5 minutes) and after completing the 6MWT (≤ 5 minutes).

Intervention type: DIAGNOSTIC_TEST
Intervention: Borg Scale
Description: The Borg scale will be assessed, which is a self-reported questionnaire designed to subjectively assess dyspnea and exertion during activity (Borg 1982). The Borg scale rates dyspnea on a scale of 0 to 10 incorporating nonlinear spacing of verbal descriptors of the level of intensity of dyspnea. A higher Borg score indicates more severe dyspnea. The Borg scale will be administered before starting the 6MWT (≤ 5 minutes) and after completing the 6MWT (≤ 5 minutes).

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: Creatine kinase
Description: CK-Level assessment in peripheral blood (peripheral venous blood draw)

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: Creatine kinase
Description: CK-Level assessment in peripheral blood (peripheral venous blood draw)

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: Vitamin D Level
Description: Vitamin D Level in peripheral blood (peripheral venous blood draw)

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: Vitamin D Level
Description: Vitamin D Level in peripheral blood (peripheral venous blood draw)

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: calcium
Description: calcium level in peripheral blood (peripheral venous blood draw)

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: calcium
Description: calcium level in peripheral blood (peripheral venous blood draw)

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: magnesium
Description: magnesium level in peripheral blood (peripheral venous blood draw)

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: magnesium
Description: magnesium level in peripheral blood (peripheral venous blood draw)

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: phosphate
Description: phosphate level in peripheral blood (peripheral venous blood draw)

Intervention type: DIAGNOSTIC_TEST
Intervention: Laboratory assessment: phosphate
Description: phosphate level in peripheral blood (peripheral venous blood draw)

Intervention type: GENETIC
Intervention: Genetic test: ACE polymorphism
Description: peripheral venous blood draw for genetic analysis of ACE polymorphism

Intervention type: GENETIC
Intervention: Genetic test: ACE polymorphism
Description: peripheral venous blood draw for genetic analysis of ACE polymorphism

Intervention type: GENETIC
Intervention: Genetic test: ACTN3 polymorphism
Description: peripheral venous blood draw for genetic analysis of ACTN3 polymorphism

Intervention type: GENETIC
Intervention: Genetic test: ACTN3 polymorphism
Description: peripheral venous blood draw for genetic analysis of ACTN3 polymorphism

Intervention type: GENETIC
Intervention: Blood draw for optional genetic exome sequencing
Description: Optionally, upon additional informed consent, exome sequencing from peripheral blood will be performed in a second step to assess whether polymorphisms or pathogenic mutations in genes that are associated with chronic pain syndromes contribute to increased pain. This analysis will be performed collectively after enrollment is complete by the Genetikum Neu-Ulm. The selection of the genes is based on the Human Phenotype Ontology (HPO) search terms myalgia, muscle pain, chronic pain, musculoskeletal pain, pain, and nociceptive pain.

Intervention type: GENETIC
Intervention: Blood draw for optional genetic exome sequencing
Description: Optionally, upon additional informed consent, exome sequencing from peripheral blood will be performed in a second step to assess whether polymorphisms or pathogenic mutations in genes that are associated with chronic pain syndromes contribute to increased pain. This analysis will be performed collectively after enrollment is complete by the Genetikum Neu-Ulm. The selection of the genes is based on the Human Phenotype Ontology (HPO) search terms myalgia, muscle pain, chronic pain, musculoskeletal pain, pain, and nociceptive pain.