Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders

Completed

• Conditions: Spinal Muscular Atrophy Type 3; Inclusion Body Myositis, Sporadic; Pompe Disease (Late-onset); Myotonic Dystrophy Type 2; Facioscapulohumeral Muscular Dystrophy 1; Myotonic Dystrophy Type 1 (DM1); Healthy
• Interventions: Diagnostic Test: Beck depression inventory fast screen; Diagnostic Test: German Pain Inventory; Diagnostic Test: Brief Pain Inventory; Diagnostic Test: Fatigue Severity and Disability Scale (FSS); 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: Myotonometer Assessment; Diagnostic Test: Vital signs; Diagnostic Test: Borg Scale

• Registration Number: NCT04907162
• Lead Sponsor: LMU Klinikum

Brief Summary

The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD). The secondary objectives are to evaluate whether severity and distribution of muscle pain is associated with muscle function, and to assess whether muscle pain is associated with alterations of muscle elasticity and muscle stiffness. Results of patients with neuromuscular disorders will be compared to age- and gender-matched healthy volunteers. Approx. 70 patients with neuromuscular disorders and 20 healthy volunteers will be enrolled, including patients with the following neuromuscular disorders: histologically confirmed inclusion body myositis (IBM), genetically confirmed late-onset Pompe disease (LOPD), genetically confirmed spinal muscular atrophy type 3 (SMA3), genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD), genetically confirmed myotonic dystrophy type 1 or type 2 (DM1, DM2). The duration of patient recruitment will be around 12 months.

Detailed Description

The explorative, cross-sectional low-interventional pilot study evaluates the prevalence, severity and quality of musculoskeletal nociceptive pain in participants with defined neuromuscular disorders (NMD). Adult participants with the following neuromuscular disorders will be included: histologically confirmed inclusion body myositis (IBM), genetically confirmed late-onset Pompe disease (LOPD), genetically confirmed spinal muscular atrophy type 3 (SMA3), genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD) and genetically confirmed myotonic dystrophy type 1 or type 2 (DM1, DM2). 20 healthy participants will be enrolled as a control group. The Beck depression inventory fast screen (BDI-FS) will be used as a screening. If there is a possibility of major depression (with a BDI ≥4), patients will be excluded from the study. So only patients with BDI-FS score ≤3 at screening will be enrolled. Patients will be asked to complete the following validated disease-related and quality-of-life questionnaires: German Pain Inventory (module A and abbreviated module S and L and V), Brief Pain Inventory (BPI) and Fatigue Severity and Disability Scale (FSS). Demographic and disease related data will be obtained. A neuromuscular examination will be conducted. A clinical evaluation of muscle strength using the MRC-Scale (Medical Research Council-Scale) will be performed 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. The Quick Motor Function Test (QMFT) with 16 items will be performed to assess muscle and movement functions of the participants. To ensure a high level of objective measurement, muscle strength will also be assessed by using 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. A six-minute-walk test (6MWT) will be performed once. Additionally, first signs of muscle pain or muscle cramps will be recorded (including the quality and intensity of pain). The Borg scale to rate dyspnea will be administered before starting the 6MWT and after completing the 6MWT. For diagnosis of myofascial pain, a Pressure Pain Threshold test by using a pressure algometer is included for the trapezius, deltoid and supraspinatus muscles, the rectus femoris muscles, and the tibialis anterior muscles until the patient feels any sensation of pain. Measurement of muscle stiffness, muscle tone, relaxation periods and viscoelasticity of selected muscles will be assessed by a myotonometer. Data collected in this study will be reported using summary tables, figures, and patient data listings. Differences between the patients and the healthy volunteers will be analyzed.

Study Timeline

• Study Start: 2021-04-15
• Study First Submitted: 2021-05-21
• Study First Submitted QC: 2021-05-26
• Study First Posted: 2021-05-28
• Status Verified: 2022-08
• Primary Completion: 2022-08-15
• Study Completion: 2022-08-15
• Last Update Submitted: 2022-08-23
• Last Update Posted: 2022-08-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 82

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Neuromuscular disease (NMD) Patients	Beck depression inventory fast screen	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Neuromuscular disease (NMD) Patients	Fatigue Severity and Disability Scale (FSS)	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Neuromuscular disease (NMD) Patients	Six-minute walk test (6MWT)	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Healthy control	German Pain Inventory	no known neuromuscular disorder
Healthy control	Brief Pain Inventory	no known neuromuscular disorder
Neuromuscular disease (NMD) Patients	Pressure pain threshold	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Healthy control	Myotonometer Assessment	no known neuromuscular disorder
Healthy control	Vital signs	no known neuromuscular disorder
Neuromuscular disease (NMD) Patients	Brief Pain Inventory	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Neuromuscular disease (NMD) Patients	Borg Scale	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Healthy control	Quick Motor Function Test	no known neuromuscular disorder
Healthy control	Handheld Dynamometry (HHD)	no known neuromuscular disorder
Healthy control	Six-minute walk test (6MWT)	no known neuromuscular disorder
Neuromuscular disease (NMD) Patients	German Pain Inventory	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Neuromuscular disease (NMD) Patients	Handheld Dynamometry (HHD)	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Neuromuscular disease (NMD) Patients	Vital signs	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Healthy control	Beck depression inventory fast screen	no known neuromuscular disorder
Healthy control	Fatigue Severity and Disability Scale (FSS)	no known neuromuscular disorder
Neuromuscular disease (NMD) Patients	Quick Motor Function Test	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Neuromuscular disease (NMD) Patients	Myotonometer Assessment	The patient has one of the following neuromuscular diagnoses: 1. histologically (muscle biopsy) confirmed inclusion body myositis (IBM), or 2. genetically confirmed late-onset Pompe disease (LOPD), or 3. genetically confirmed spinal muscular atrophy type 3 (SMA3), or 4. genetically confirmed myotonic dystrophy type 1, or 5. genetically confirmed myotonic dystrophy type 2, or 6. genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).
Healthy control	Pressure pain threshold	no known neuromuscular disorder
Healthy control	Borg Scale	no known neuromuscular disorder

Primary Outcome Measures

Name	Time	Method
Prevalence of musculoskeletal pain in defined neuromuscular diseases	Only at baseline visit	The primary aim is to characterize the prevalence of musculoskeletal pain in adult patients with neuromuscular disorders (NMD).

Secondary Outcome Measures

Name	Time	Method
Association between musculoskeletal pain and muscle function, assessed by quick motor function test (QMFT)	Only at baseline visit	Assessed by quick motor function test (QMFT)
Association between musculoskeletal pain and muscle function, assessed by a Myotonometer	Only at baseline visit	Assessed by a Myotonometer (incl. relaxation time, stiffness, muscle tone, relaxation periods and viscoelasticity)
Association between musculoskeletal pain and muscle function, assessed by Medical research council (MRC) grading (0-5)	Only at baseline visit	Assessed by Medical research council (MRC) grading (0-5)
Association between musculoskeletal pain and muscle function, assessed by Pressure Pain Threshold (PPT)	Only at baseline visit	Assessed by Pressure Pain Threshold (PPT)
Assessment of Questionnaire: Beck depression inventory fast screen	Only at baseline visit	Association between Depression and musculoskeletal pain
Assessment of Questionnaire: Brief Pain Inventory	Only at baseline visit	Association between Depression and musculoskeletal pain
Assessment of Questionnaire: Fatigue Severity Scale (FSS)	Only at baseline visit	Association between Depression and musculoskeletal pain
Characterization of musculoskeletal pain (quality and severity) assessed by the German Pain Questionnaire	Only at baseline visit	Characterization of quality and severity of musculoskeletal pain
Characterization of musculoskeletal pain (quality and severity) assessed by the Brief Pain Inventory (BPI)	Only at baseline visit	Characterization (quality and severity) of musculoskeletal pain

Trial Locations

Locations (1)

Friedrich-Baur-Institute; 🇩🇪 München, Bavaria, Germany