Myotonia and Muscle Stiffness in NMD

NCT04411732 | Completed

• 1 other identifier: Version: 1 [01-JUL-2019]
• Study Type: observational
• Target: 133
• Locations: 1 country
• Sites: 1

Brief Summary

The primary objective of this study is to assess stiffness, muscle tone, relaxation periods and elasticity of various muscles in patients with dystrophic or non-dystrophic myotonia. The secondary objectives are (1) to provide reference values for stiffness, muscle tone, relaxation periods and elasticity of various muscles in patients with dystrophic or non-dystrophic myotonia; to provide reference values for stiffness, muscle tone, relaxation periods and elasticity of various muscles in patients with non-myotonic neuromuscular disorders, (3) assess correlations between to compare result values for stiffness, muscle tone, relaxation periods and elasticity with clinical muscle function tests, measured by clinical evaluation (MRC-scale) and the 6-minute walk test; (4) assess correlations between subcutaneous fat and muscle thickness and echogenicity, measured by muscle ultrasound and result values for stiffness, muscle tone, relaxation periods and elasticity.

Conditions

Neuromuscular Disorders

Outcome Measures

Primary Outcomes (1)

• MyotonPro device in patients with dystrophic and non-dystrophic myotonia

  The primary objective of this study is the comparison of viscoelastic stiffness of the underlying tissue measured by stiffness (S), elasticity (D) and relaxation (R) between patients with dystrophic and non-dystrophic myotonia.

  1 day

Secondary Outcomes (5)

• MyotonPro device - reference values in patients with dystrophic and non-dystrophic myotonia

  1 day

• MyotonPro device - reference values in patients with non-myotonic neuromuscular disorders

  1 day

• MyotonPro device - correlations between stiffness, muscle tone, relaxation periods and elasticity with clinical muscle function tests

  1 day

• MyotonPro device - correlations between stiffness, muscle tone, relaxation periods and elasticity with subcutaneous fat and muscle thickness and echogenicity

  1 day

• MyotonPro device - correlations between stiffness, muscle tone, relaxation periods and elasticity and the 6-minute-walk test

  1 day

Study Arms (2)

patients with neuromuscular disorder

cohort of patients with neuromuscular disorder

Device: MyotonPro; Diagnostic Test: Six-minute walk test; Diagnostic Test: Semiquantitative muscle ultrasound; Diagnostic Test: Hand-held Dynamometry of muscle strength

healthy controls

cohort of healthy controls

Device: MyotonPro; Diagnostic Test: Six-minute walk test; Diagnostic Test: Semiquantitative muscle ultrasound; Diagnostic Test: Hand-held Dynamometry of muscle strength

Interventions

MyotonPro DEVICE

Measurement of relaxation time, stiffness and elasticity of the following muscles, using the MyotonPro® device: on both sides thenar and hypothenar, m. biceps brachii, m. triceps brachii, m. deltoideus, m. quadriceps femoris, m. tibialis anterior and gastrocnemius muscles.

healthy controls; patients with neuromuscular disorder

Six-minute walk test DIAGNOSTIC_TEST

The six-minute walk test (6MWT) measures the distance an individual is able to walk over a total of six minutes on a hard, flat surface. The goal is for the individual to walk as far as possible in six minutes. The individual is allowed to self-pace and rest as needed as they traverse back and forth along a marked walkway. The 6MWT has been used with a variety of other conditions than the chronic obstructive pulmonary disease (COPD) such as heart failure and stroke and is widely used in neuromuscular diseases. The six-minute-walk-test will be conducted as recommended by the American Thoracic Society. In this study, the six-minute-walk test will be performed once on visit 1 to detect the impact of muscle weakness, muscle stiffness and myotonia on muscular endurance.

healthy controls; patients with neuromuscular disorder

Semiquantitative muscle ultrasound DIAGNOSTIC_TEST

Muscle ultrasound is an ideal imaging modality that allows for atraumatic, noninvasive, radiation-free point-of-care neuromuscular imaging. Muscular dystrophies 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. Spinal muscular atrophies and neuropathies also showed an increase in muscle echo along with atrophy of the muscle and increase in depth of subcutaneous tissue, but a persisting bone echo. In several other myopathies, similar changes are seen. In semi-quantitative muscle ultrasound, muscle intensity will be documented using the 4-point Heckmatt score. In addition to that, cutis, subcutaneus fat and muscle will be measured in mm.

healthy controls; patients with neuromuscular disorder

Hand-held Dynamometry of muscle strength DIAGNOSTIC_TEST

Muscle strength will be assessed by handheld dynamometry using the MicroFET2 myometer, produced by Hoggan Health Industries. This test is widely used in patients with neuromuscular diseases. To perform a test, the examiner holds the dynamometer stationary while the patient exerts a maximal force against the dynamometer. The patient makes a gradual increase in force and then completes an isometric hold for 4-5 seconds. The following muscle groups will be tested: Arm abduction, elbow flexion, elbow extension, knee extension, knee flexion, foot extension, foot flexion.

healthy controls; patients with neuromuscular disorder

Eligibility Criteria

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

Study Population

Approximately 70 patients will be enrolled, about 3-5 each in the following disease groups: Limb-Girdle-Muscular Dystrophy (LGMD), Myotonic Dystrophies Type 1 and 2 (DM1, DM2), Late-Onset-Pompe Disease (LOPD), Distal Myopathies, Congenital Myotonia, Spinal muscular atrophy Type 3 (SMA3), Amyotrophic lateral sclerosis (ALS) and peripheral Polyneuropathies (CIDP, HMSN). 20 healthy age- and gender-matched patients will be enrolled as a control group.

You may qualify if:

• For Patients:
• ≥18 years of age
• Confirmed neuromuscular disease
• written consent
• able and willing to perform study prodcedures
• For healthy volunteers:
• age ≥18 years of age
• written informed consent
• no clinical sign for neuromuscular disorders

You may not qualify if:

• Severe comorbidities
• Patient is participating in another clinical study using investigational treatment
• Patient cannot perform required muscle function tests
• the patient, in the opinion of the investigator, is unable to adhere to the requirements of the study

Sponsors & Collaborators

• LMU Klinikum: lead

Study Sites (1)

Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen

Munich, Bavaria, 80336, Germany

Location

MeSH Terms

Conditions

Neuromuscular Diseases

Interventions

Walk Test

Condition Hierarchy (Ancestors)

Nervous System Diseases

Intervention Hierarchy (Ancestors)

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

Study Officials

• Stephan Wenninger, 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: Prof. Dr. med. Benedikt Schoser

Study Record Dates

• First Submitted: May 25, 2020
• First Posted: June 2, 2020
• Study Start: October 1, 2019
• Primary Completion: July 31, 2023
• Study Completion: September 30, 2023
• Last Updated: October 11, 2023

Record last verified: 2023-10

Locations

DE (1)