Clinical trial NCT04411732: Myotonia and Muscle Stiffness in NMD
Official title: Myotonia, Muscle Stiffness and Elasticity in Neuromuscular Disorders
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neuromuscular Disorders
Lead sponsor: LMU Klinikum
Sponsor class: OTHER
First posted: 2020-06-02
Enrollment: 133
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
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.

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.


Eligibility criteria: 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

Primary outcomes:
measure: MyotonPro device in patients with dystrophic and non-dystrophic myotonia
timeFrame: 1 day
Secondary outcomes:
measure: MyotonPro device - reference values in patients with dystrophic and non-dystrophic myotonia
timeFrame: 1 day
measure: MyotonPro device - reference values in patients with non-myotonic neuromuscular disorders
timeFrame: 1 day
measure: MyotonPro device - correlations between stiffness, muscle tone, relaxation periods and elasticity with clinical muscle function tests
timeFrame: 1 day
measure: MyotonPro device - correlations between stiffness, muscle tone, relaxation periods and elasticity with subcutaneous fat and muscle thickness and echogenicity
timeFrame: 1 day
measure: MyotonPro device - correlations between stiffness, muscle tone, relaxation periods and elasticity and the 6-minute-walk test
timeFrame: 1 day
Other outcomes:
Locations:
city: Munich
country: Germany
facility: Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen
state: Bavaria
Study officials:
affiliation: Neurologist
name: Stephan Wenninger, Dr. med.
role: PRINCIPAL_INVESTIGATOR
References: