Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease
NCT ID: NCT05272969
Last Updated: 2023-10-10
Study Results
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Basic Information
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UNKNOWN
95 participants
OBSERVATIONAL
2022-03-31
2024-09-03
Brief Summary
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Detailed Description
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After screening of 120 patients, approximately 50 patients with late-onset Pompe disease, 15 patients with IBM, 15 patients with FSHD and 15 patients with SMA3, who meet all eligibility criteria, will be enrolled in the study. All patients will be required to attend once at a study site to perform all study-related procedures. The study procedures will take approx. 3 hours.
Demographic and disease-related data (age, gender, weight, height, diagnosis, a historical genetic test results and/or muscle biopsy results, age at onset of symptoms, age at diagnosis, severity and distribution of muscle weakness, prior and concomitant medication, medical history, ventilation status) will be obtained. Patients will fill out validated disease-related and quality-of-life questionnaires: Brief Pain Inventory, Rotterdam Handicap Scale, Fatigue Severity Scale, R-PAct, and German Pain Questionnaire. Patients will be asked to sketch regions of perceived musculoskeletal pain on a body figure, which is provided on a tablet or a paper version. The paper version will be scanned and regions of muscular pain will be digitally evaluated to develop a map of musculoskeletal pain regions. For this, a novel software will be used, provided by the Institute for Information Engineering, Wolfenbüttel.
Muscle strength will be assessed clinically by MRC grading (0-5), by quick motor function test (QMFT) and by dynamometry of selected muscles.
Pressure Pain Threshold (PPT) is defined as the minimum force applied which induces pain. Pressure algometry measurements will be performed to assess PPTs on the trapezius, deltoid and supraspinatus muscles, the rectus femoris muscles, and the tibialis anterior muscles. For muscle function and endurance, a six-minute walk test will be performed. If this test was performed within the last 3 months (e.g. for routine treatment/assessments), no new test will be performed and the last assessment will be documented (distance walked in meters, borg scale, vital parameters and date of assessment). In muscle ultrasound, alterations of muscle tissue will be evaluated in selected muscles of proximal muscles of upper and lower limbs, cervical, thoracic and lumbar vertebral muscles and rectus abdominis muscle. In laboratory assessments, polymorphisms of ACE and ACTN3 will be analyzed by molecular analysis. Levels of creatine kinase (CK) and Vitamin D, calcium, phosphate and magnesium will be analyzed. In a second step upon additional informed consent, blood samples will be analyzed by exome sequencing for mutations and variants in common genes associated with chronic pain syndromes.
Conditions
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Study Design
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CASE_CONTROL
CROSS_SECTIONAL
Study Groups
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LOPD group
50 Patients with genetically confirmed late-onset Pompe disease.
Beck depression inventory fast screen (Questionnaire)
Beck depression inventory fast screen questionnaire to detect severe depression for eligibility.
Brief Pain Inventory (BPI) (Questionnaire)
Validated questionnaire for pain.
German Pain Inventory (Questionnaire)
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.
Fatigue Severity and Disability Scale (FSS) (Questionnaire)
Validated questionnaire for perceived fatigue
Rotterdam Handicap Scale (RHS) (Questionnaire)
validated questionnaire to assess a patient's functional ability and level of handicap
R-PAct (Questionnaire)
The R-PAct scale is designed specifically for Pompe disease, which consists of 18 items addressing daily life activities with three response options.
Quick Motor Function Test
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.
Handheld Dynamometry (HHD)
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.
Six-minute walk test (6MWT)
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.
Pressure pain threshold
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.
Muscle ultrasound
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.
Vital signs
Vital signs (blood pressure, heart rate, respiratory rate) will be measured before and after the six-Minute-Walk-Test (6MWT).
Borg Scale
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).
Laboratory assessment: Creatine kinase
CK-Level assessment in peripheral blood (peripheral venous blood draw)
Laboratory assessment: Vitamin D Level
Vitamin D Level in peripheral blood (peripheral venous blood draw)
Laboratory assessment: calcium
calcium level in peripheral blood (peripheral venous blood draw)
Laboratory assessment: magnesium
magnesium level in peripheral blood (peripheral venous blood draw)
Laboratory assessment: phosphate
phosphate level in peripheral blood (peripheral venous blood draw)
Genetic test: ACE polymorphism
peripheral venous blood draw for genetic analysis of ACE polymorphism
Genetic test: ACTN3 polymorphism
peripheral venous blood draw for genetic analysis of ACTN3 polymorphism
Blood draw for optional genetic exome sequencing
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".
Control group
15 Patients with histologically confirmed inclusion body myositis (IBM), 15 patients with genetically confirmed spinal muscular atrophy type 3 (SMA3) and 15 patients with genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD) will serve as a control group.
Beck depression inventory fast screen (Questionnaire)
Beck depression inventory fast screen questionnaire to detect severe depression for eligibility.
Brief Pain Inventory (BPI) (Questionnaire)
Validated questionnaire for pain.
German Pain Inventory (Questionnaire)
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.
Fatigue Severity and Disability Scale (FSS) (Questionnaire)
Validated questionnaire for perceived fatigue
Rotterdam Handicap Scale (RHS) (Questionnaire)
validated questionnaire to assess a patient's functional ability and level of handicap
R-PAct (Questionnaire)
The R-PAct scale is designed specifically for Pompe disease, which consists of 18 items addressing daily life activities with three response options.
Quick Motor Function Test
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.
Handheld Dynamometry (HHD)
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.
Six-minute walk test (6MWT)
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.
Pressure pain threshold
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.
Muscle ultrasound
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.
Vital signs
Vital signs (blood pressure, heart rate, respiratory rate) will be measured before and after the six-Minute-Walk-Test (6MWT).
Borg Scale
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).
Laboratory assessment: Creatine kinase
CK-Level assessment in peripheral blood (peripheral venous blood draw)
Laboratory assessment: Vitamin D Level
Vitamin D Level in peripheral blood (peripheral venous blood draw)
Laboratory assessment: calcium
calcium level in peripheral blood (peripheral venous blood draw)
Laboratory assessment: magnesium
magnesium level in peripheral blood (peripheral venous blood draw)
Laboratory assessment: phosphate
phosphate level in peripheral blood (peripheral venous blood draw)
Genetic test: ACE polymorphism
peripheral venous blood draw for genetic analysis of ACE polymorphism
Genetic test: ACTN3 polymorphism
peripheral venous blood draw for genetic analysis of ACTN3 polymorphism
Blood draw for optional genetic exome sequencing
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".
Interventions
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Beck depression inventory fast screen (Questionnaire)
Beck depression inventory fast screen questionnaire to detect severe depression for eligibility.
Brief Pain Inventory (BPI) (Questionnaire)
Validated questionnaire for pain.
German Pain Inventory (Questionnaire)
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.
Fatigue Severity and Disability Scale (FSS) (Questionnaire)
Validated questionnaire for perceived fatigue
Rotterdam Handicap Scale (RHS) (Questionnaire)
validated questionnaire to assess a patient's functional ability and level of handicap
R-PAct (Questionnaire)
The R-PAct scale is designed specifically for Pompe disease, which consists of 18 items addressing daily life activities with three response options.
Quick Motor Function Test
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.
Handheld Dynamometry (HHD)
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.
Six-minute walk test (6MWT)
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.
Pressure pain threshold
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.
Muscle ultrasound
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.
Vital signs
Vital signs (blood pressure, heart rate, respiratory rate) will be measured before and after the six-Minute-Walk-Test (6MWT).
Borg Scale
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).
Laboratory assessment: Creatine kinase
CK-Level assessment in peripheral blood (peripheral venous blood draw)
Laboratory assessment: Vitamin D Level
Vitamin D Level in peripheral blood (peripheral venous blood draw)
Laboratory assessment: calcium
calcium level in peripheral blood (peripheral venous blood draw)
Laboratory assessment: magnesium
magnesium level in peripheral blood (peripheral venous blood draw)
Laboratory assessment: phosphate
phosphate level in peripheral blood (peripheral venous blood draw)
Genetic test: ACE polymorphism
peripheral venous blood draw for genetic analysis of ACE polymorphism
Genetic test: ACTN3 polymorphism
peripheral venous blood draw for genetic analysis of ACTN3 polymorphism
Blood draw for optional genetic exome sequencing
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".
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
2. The patient is able and willing to perform study-related assessments.
3. A) The patient is ≥18 years of age with acid α-glucosidase \[GAA\] enzyme deficiency, confirmed by GAA gene mutation analysis, or B) The patient has a histologically confirmed diagnosis of inclusion body myositis (IBM), or a genetically confirmed spinal muscular atrophy type 3 (SMA3) or a genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Exclusion Criteria
2. The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
3. The patient has currently a severe depression, assessed by the Beck depression inventory fast screen (BDI-FS) with a score ≥ 4
18 Years
ALL
No
Sponsors
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LMU Klinikum
OTHER
Responsible Party
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Prof. Dr. Benedikt Schoser
Professor of Neurology
Principal Investigators
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Stephan Wenninger, PD Dr. med.
Role: PRINCIPAL_INVESTIGATOR
Study Principal Investigator
Locations
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Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen
Munich, Bavaria, Germany
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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Pompe&Pain
Identifier Type: -
Identifier Source: org_study_id
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