Myotonia and Muscle Stiffness in NMD

NCT ID: NCT04411732

Last Updated: 2023-10-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

133 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-10-01

Study Completion Date

2023-09-30

Brief Summary

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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.

Detailed Description

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Conditions

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Neuromuscular Disorders

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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patients with neuromuscular disorder

cohort of patients with neuromuscular disorder

MyotonPro

Intervention Type 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.

Six-minute walk test

Intervention Type 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.

Semiquantitative muscle ultrasound

Intervention Type 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.

Hand-held Dynamometry of muscle strength

Intervention Type 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

cohort of healthy controls

MyotonPro

Intervention Type 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.

Six-minute walk test

Intervention Type 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.

Semiquantitative muscle ultrasound

Intervention Type 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.

Hand-held Dynamometry of muscle strength

Intervention Type 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.

Interventions

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MyotonPro

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.

Intervention Type DEVICE

Six-minute walk 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.

Intervention Type DIAGNOSTIC_TEST

Semiquantitative muscle ultrasound

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.

Intervention Type DIAGNOSTIC_TEST

Hand-held Dynamometry of muscle strength

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.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* 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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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LMU Klinikum

OTHER

Sponsor Role lead

Responsible Party

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Prof. Dr. Benedikt Schoser

Prof. Dr. med. Benedikt Schoser

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Stephan Wenninger, Dr. med.

Role: PRINCIPAL_INVESTIGATOR

Neurologist

Locations

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

Munich, Bavaria, Germany

Site Status

Countries

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Germany

Provided Documents

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Document Type: Study Protocol

View Document

Other Identifiers

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Version: 1 [01-JUL-2019]

Identifier Type: -

Identifier Source: org_study_id

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