Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders

NCT04907162 | Completed

• 1 other identifier: PainNMD Version 1
• Study Type: observational
• Target: 82
• Locations: 1 country
• Sites: 1

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.

Conditions

Pompe Disease (Late-onset); Myotonic Dystrophy Type 1 (DM1); Myotonic Dystrophy Type 2; Spinal Muscular Atrophy Type 3; Inclusion Body Myositis, Sporadic; Facioscapulohumeral Muscular Dystrophy 1; Healthy

Keywords

nociceptive pain; musculoskeletal

Outcome Measures

Primary Outcomes (1)

• Prevalence of musculoskeletal pain in defined neuromuscular diseases

  The primary aim is to characterize the prevalence of musculoskeletal pain in adult patients with neuromuscular disorders (NMD).

  Only at baseline visit

Secondary Outcomes (9)

• Association between musculoskeletal pain and muscle function, assessed by Medical research council (MRC) grading (0-5)

  Only at baseline visit

• Association between musculoskeletal pain and muscle function, assessed by quick motor function test (QMFT)

  Only at baseline visit

• Association between musculoskeletal pain and muscle function, assessed by Pressure Pain Threshold (PPT)

  Only at baseline visit

• Association between musculoskeletal pain and muscle function, assessed by a Myotonometer

  Only at baseline visit

• Assessment of Questionnaire: Beck depression inventory fast screen

  Only at baseline visit

Study Arms (2)

Neuromuscular disease (NMD) Patients

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).

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

Healthy control

no known neuromuscular disorder

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

Interventions

Beck depression inventory fast screen DIAGNOSTIC_TEST

Beck depression inventory fast screen questionnaire to detect severe depression for eligibility.

Also known as: BDI-FS

Healthy control; Neuromuscular disease (NMD) Patients

German Pain Inventory DIAGNOSTIC_TEST

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.

Also known as: Deutscher Schmerzfragebogen (DSF)

Healthy control; Neuromuscular disease (NMD) Patients

Brief Pain Inventory DIAGNOSTIC_TEST

Validated questionnaire for pain.

Also known as: BPI

Healthy control; Neuromuscular disease (NMD) Patients

Fatigue Severity and Disability Scale (FSS) DIAGNOSTIC_TEST

Validated questionnaire for perceived fatigue

Also known as: FSS

Healthy control; Neuromuscular disease (NMD) Patients

Quick Motor Function Test DIAGNOSTIC_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.

Also known as: QMFT

Healthy control; Neuromuscular disease (NMD) Patients

Handheld Dynamometry (HHD) DIAGNOSTIC_TEST

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.

Also known as: HHD

Healthy control; Neuromuscular disease (NMD) Patients

Six-minute walk test (6MWT) DIAGNOSTIC_TEST

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.

Also known as: 6MWT

Healthy control; Neuromuscular disease (NMD) Patients

Pressure pain threshold DIAGNOSTIC_TEST

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.

Also known as: PPT

Healthy control; Neuromuscular disease (NMD) Patients

Myotonometer Assessment DIAGNOSTIC_TEST

Muscle stiffness, muscle tone, relaxation periods and viscoelasticity will be assessed by a myotonometer of selected muscles (non-invasive measurement). The method of measurement consists of recording damped natural oscillation of soft biological tissue in the form of an acceleration signal and the subsequent simultaneous computation of the parameters of State of Tension, Biomechanical and Viscoelastic properties. Measurements will be performed on the trapezius, deltoid and supraspinatus muscles, the rectus femoris muscles, and the tibialis anterior muscles.

Healthy control; Neuromuscular disease (NMD) Patients

Vital signs DIAGNOSTIC_TEST

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

Also known as: Vital parameters (VP)

Healthy control; Neuromuscular disease (NMD) Patients

Borg Scale DIAGNOSTIC_TEST

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).

Healthy control; Neuromuscular disease (NMD) Patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Approximately 70 patients with defined NMD (see inclusion criteria) will be enrolled. For a control group, 20 healthy volunteers will be enrolled. All patients must be ≥ 18 years of age.

You may qualify if:

• The participant is willing and able to provide signed informed consent.
• The participant is able and willing to perform study-related assessments.
• The participant is ≥18 years of age
• The participant has one of the following diagnoses:
• genetically confirmed late-onset Pompe disease (LOPD), or
• genetically confirmed spinal muscular atrophy type 3 (SMA3), or
• genetically confirmed myotonic dystrophy type 1, or
• genetically confirmed myotonic dystrophy type 2, or
• genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).

You may not qualify if:

• The participant is participating in another clinical study or using an investigational treatment.
• The participant, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
• The participant has currently a severe depression, assessed by the Beck depression inventory fast screen (BDI-FS) with a score ≥ 4

Sponsors & Collaborators

• LMU Klinikum: lead

Study Sites (1)

Friedrich-Baur-Institute

München, Bavaria, 80336, Germany

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Myotonic Dystrophy; Spinal Muscular Atrophies of Childhood; Myositis, Inclusion Body; Nociceptive Pain

Interventions

Walk Test; Vital Signs

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Neuromuscular Diseases; Muscular Atrophy, Spinal; Spinal Cord Diseases; Motor Neuron Disease; Myositis; Pain; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Exercise Test; Heart Function Tests; Diagnostic Techniques, Cardiovascular; Diagnostic Techniques and Procedures; Diagnosis; Physical Examination

Study Officials

• Stephan Wenninger, PD Dr. med.

  Neurologist

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical Professor

Study Record Dates

• First Submitted: May 21, 2021
• First Posted: May 28, 2021
• Study Start: April 15, 2021
• Primary Completion: August 15, 2022
• Study Completion: August 15, 2022
• Last Updated: August 24, 2022

Record last verified: 2022-08

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)