Pompe Disease (Late-onset) Clinical Trial
Official title:
Pompe & Pain - Observational Study to Assess Musculoskeletal Pain in Late-onset Pompe Disease (LOPD)
The primary aim of this nationwide, explorative, cross-sectional study in Germany is to characterize the prevalence, severity and quality of musculoskeletal pain in adult patients with late-onset Pompe disease (LOPD). The secondary objectives are to evaluate whether muscle pain is associated with muscle function, to assess whether muscle pain is associated with alterations of muscle tissue, and whether vitamin D metabolism and polymorphisms of ACE and ACTN3 genes may contribute to an increased level of perceived musculoskeletal pain. In a second step, exome sequencing of genes associated with musculoskeletal pain will be analyzed. Results of LOPD patients will be compared to patients with neuromuscular disorders with a similar distribution of muscle weakness and/or musculoskeletal pain.
Status | Recruiting |
Enrollment | 95 |
Est. completion date | September 3, 2024 |
Est. primary completion date | May 30, 2024 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 18 Years and older |
Eligibility | Inclusion Criteria: A patient must meet the following criteria to be eligible for this study: 1. The patient is willing and able to provide signed informed consent. 2. The patient is able and willing to perform study-related assessments. 3. A) The patient is =18 years of age with acid a-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: A patient who meets any of the following criteria will be excluded from this study. 1. The patient is participating in another clinical study or using an investigational treatment. 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 |
Country | Name | City | State |
---|---|---|---|
Germany | Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen | Munich | Bavaria |
Lead Sponsor | Collaborator |
---|---|
LMU Klinikum |
Germany,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | Assessment of Questionnaire: Beck depression inventory fast screen | Association between Depression and musculoskeletal pain. Participants are asked to select the statement that describes best their feeling during the past 2 weeks by choosing the answer of four graded statements describing symptoms of depression on a scale ranging from zero to 3. The BDI-FS is then scored by summing the ratings of each item. Zero means no depressive symptoms, whereas a cut-off score of four and above indicates a major depression. | Only at baseline visit | |
Other | Assessment of Questionnaire: Rotterdam Handicap Scale (RHS) | Questionnaire evaluation: characteristics of musculoskeletal pain associated with score in Rotterdam Handicap Scale (RHS). The RHS provides information about mobility but also physical independence, occupation, and social integration for patients with neuromuscular disorders. The RHS consists of nine questions on the topics mobility indoors, mobility outdoors, kitchen tasks, domestic tasks indoors, domestic tasks outdoors, leisure activities indoors, leisure activities outdoors, travelling, and work or study. The scores per item range from 1 ('unable to fulfil the task or activity') to 4 ('complete fulfilment of the task or activity'). The total score ranges from 9 ('unable to fulfil any task/activity') to 36 ('able to fulfil all applicable tasks or activities'). | Only at baseline visit | |
Other | Assessment of Questionnaire: R-Pact | The Rasch-built Pompe-specific activity (R-PAct) is a subject-reported disease-specific 18-item questionnaire using Rasch analysis specifically suited to quantify activity limitations, ranging from unable to perform daily life activities (0) to able to perform without difficulty (2) in patients with Pompe disease. A lower score indicates a higher limitation in activity of daily life. | Only at baseline visit | |
Other | Assessment of Questionnaire: Fatigue Severity and Disability Scale (FSS) | Questionnaire evaluation: characteristics of musculoskeletal pain associated with score in Fatigue Severity and Disability Scale (FSS). The Fatigue Severity Scale is a 9-item scale which measures the severity of fatigue and its effect on a person's activities and lifestyle in patients with a variety of disorders. The items are scored on a 7 point scale with 1=strongly disagree and 7=strongly agree. The minimum score=9 and maximum score possible=63. Higher the score=greater fatigue severity. | Only at baseline visit | |
Primary | Prevalence of musculoskeletal pain in LOPD patients | The primary aim of this nationwide, explorative, cross-sectional study in Germany is to characterize the prevalence of musculoskeletal pain in adult patients with late-onset Pompe disease (LOPD). | Only at baseline visit | |
Secondary | Association between musculoskeletal pain and muscle function, assessed by Medical research council (MRC) grading (0-5) | Assessed by Medical research council (MRC) grading (0-5) of selected muscles: on both sides deltoid muscles, biceps brachii muscles, triceps brachii muscles, hip flexors, hip extensors, quadriceps femoris muscles, foot extensor and foot flexor muscles as well as axial muscles and neck flexors and extensors. A maximum score of 95 means no weakness, a minimum score of 0 means tetraplegia. | Only at baseline visit | |
Secondary | Association between musculoskeletal pain and muscle function, assessed by quick motor function test (QMFT) | Assessed by quick motor function test (QMFT). The QMFT is a clinical test. An evaluator assesses the performance of a patient and scores the items separately on a 5-point ordinal scale, ranging from 0 (not able) to 4 (normal performance). A total score is obtained by adding the scores of all items. The total score ranges between 0 and 64 points, a higher score means better performance. | Only at baseline visit | |
Secondary | Association between musculoskeletal pain and muscle function, assessed by Pressure Pain Threshold (PPT) | Assessed by Pressure Pain Threshold (PPT). Pressure algometry is defined as the minimum force applied which induces pain. Measurements will be performed on the trapezius, deltoid and supraspinatus muscles, the rectus femoris muscles, and the tibialis anterior muscles. The assessor places the pressure algometer on a site to be inspected in 3 series of slowly increasing stimulus (contact area 1cm2) intensities (0.5 kg/s, corresponding to ca. 50 kPa/s). A higher score means a higher pressure pain threshold. There is no cutoff or total score. | Only at baseline visit | |
Secondary | Association between musculoskeletal pain and alterations of muscles, assessed by muscle ultrasound | To assess whether musculoskeletal pain regions are associated with muscle tissue alteration, evaluated by muscle ultrasound, using the Heckmatt scale 1 (no alteration) to IV (dystrophic muscle). Lower scale means healthier muscle. | Only at baseline visit | |
Secondary | Association between musculoskeletal pain and Insertion-(I)-/Deletion-(D)-Polymorphisms of the ACE (angiotensin-converting enzyme; (ACE-I/D)) gene | ACE genotyping (angiotensin-converting enzyme I/D polymorphisms) to assess whether Insertion-(I)-/Deletion-(D)-Polymorphisms of the ACE gene are associated with musculoskeletal pain. | Only at baseline visit | |
Secondary | Association between musculoskeletal pain and R-/X-polymorphisms of the Alpha-Actinin-3 (ACTN3) gene | ACTN3 genotyping (Alpha-Actinin-3 R-/X-polymorphisms) to assess whether R-/X-Polymorphisms of the ACTN3 gene are associated with musculoskeletal pain. | Only at baseline visit | |
Secondary | Association between musculoskeletal pain and variants in defined genes, using exome sequencing | to assess whether polymorphisms or pathogenic mutations in genes that are associated with chronic pain syndromes contribute to nociceptive pain, using exome sequencing of selected genes. | Only at baseline visit | |
Secondary | Characterization of musculoskeletal pain (quality and severity) assessed by the German Pain Questionnaire | Characterization of quality and severity of musculoskeletal pain. The German Pain Questionnaire is a multidimensional questionnaire, based on several modules to characterize the quality of pain and consists of: demographic data, pain variables (e. g. pain sites, temporal characteristics, duration), pain associated symptoms, affective and sensory qualities of pain, pain-relieving and intensifying factors, previous pain treatment procedures, pain-related disability, comorbid conditions, social factors, and health-related quality of life. 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. However, there is no total score that indicates e.g. lower or higher pain. | Only at baseline visit | |
Secondary | Characterization of musculoskeletal pain (quality and severity) assessed by the Brief Pain Inventory (BPI) | To assess the severity of pain and the impact of pain on daily functions. The two categories Pain Intensity and Pain Interference are rated by patients on a scale from 0-10, 10 being excruciating pain intensity and a complete interference in their life. There is no scoring algorithm, but "worst pain" or the arithmetic mean of the four severity items can be used as measures of pain severity; the arithmetic mean of the seven interference items can be used as a measure of pain interference. | Only at baseline visit |
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