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Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases

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ClinicalTrials.gov Identifier: NCT03018184
Recruitment Status : Recruiting
First Posted : January 11, 2017
Last Update Posted : January 12, 2017
Sponsor:
Information provided by (Responsible Party):
Anne-Sofie Vibæk Eisum, Rigshospitalet, Denmark

January 10, 2017
January 11, 2017
January 12, 2017
December 2016
December 2017   (Final data collection date for primary outcome measure)
  • Muscle CCSA, investigated by Dixon MRI techniques. [ Time Frame: MRI scan per subject lasts approximately 60 minutes. ]
    The MRI protocol include a whole body scan. The calf and thigh are chosen for qualitative analysis. Cross sectional area is calculated, the amount of adipose tissue is calculated, and the amount of adipose tissue is subtracted from the CSA, resulting in the CCSA.
  • Muscle strength, measured as peak torque, investigated by an isokinetic dynamometer (Biodex 4). [ Time Frame: The tests takes less than an hour per subject. ]
    The dynamometer makes it possible to isolate particular muscle groups. It is possible to control the range of motion and thereby test in an area free of pain.
  • Muscle CCSA, investigated by Dixon MRI techniques. [ Time Frame: MRI scan per subject lasts approximately 60 minutes. ]
    The MRI protocol include a whole body scan. The calf and thigh arechosen for qualitative analysis. Cross sectional area is calculated, the amount of adipose tissue is calculated, and the amount of adipose tissue is subtracted from the CSA, resulting in the CCSA.
  • Muscle strength, measured as peak torque, investigated by an isokinetic dynamometer (Biodex 4). [ Time Frame: The tests takes less than an hour per subject. ]
    The dynamometer makes it possible to isolate particular muscle groups. It is possible to control the range of motion and thereby test in an area free of pain.
Complete list of historical versions of study NCT03018184 on ClinicalTrials.gov Archive Site
Muscle Strength, MRC [ Time Frame: The exam lasts less than 15 min per subject. ]
Assessment of the muscle strength by a clinical test using "the Medical Research Council Scale for muscle strength" (MRC-scale).
Same as current
Not Provided
Not Provided
 
Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases
Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases as Compared to Healthy Individuals
Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the thigh and calf in patients affected by inherited muscle diseases.
Patients with inherited muscle diseases can have several miscellaneous problems in their muscles, which can be both structural and metabolic. Depending on the specific disease multiple symptoms may be present. All the different diseases can affect the contractility of the muscles. Examples of inherited muscle diseases are congenital myopathies and RYR1-myopathy, afflicting the muscle fiber structure. They are the first subgroups of inherited muscle diseases to be investigated in this study. Congenital myopathies are hereditary and relatively non-progressive diseases. Hypotonia is the clinical characteristic of congenital myopathies and is often presented already in the neonatal period. Almost all patients have generalized muscle weakness and hypotonia. The various subtypes of congenital myopathy are a broad group of disorders defined by the predominance of particular and specific structural abnormalities shown in muscle biopsies. Based on genetic and morphological features, they can be divided into four main groups; one with central cores, one with central nuclei, one with minicores and one with nemaline bodies. RYR1-myopathy is caused by a mutation in the RYR-gene. The RYR1-protein is important in the making of RYR1-receptors and channels responsible for the transport of calcium atoms within muscle cells, particularly in muscle contractions. Patients typically present with limb weakness, decreased fetal movement and skeletal abnormalities. About 70% of patients with malignant hyperthermia have a mutation in the RYR1-gene. MRI findings often include involvement of different muscles in the thigh and the calf.
Observational
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Not Provided
Not Provided
Non-Probability Sample
Patients with verified inherited muscle disease.
  • Inherited Muscle Diseases
  • Congenital Myopathy
  • RYR1-myopathy
Other: MRI and Muscle Dynamometer
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
200
Same as current
December 2026
December 2017   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Verified inherited muscle disease.
  • Age: Over 18 years old

Exclusion Criteria:

  • Contraindications for an MRI.
  • Claustrophobia.
  • Pregnant or nursing women.
  • Competing disorders (as arthritis) or other muscle disorders.
Sexes Eligible for Study: All
18 Years to 80 Years   (Adult, Older Adult)
No
Contact: Anne-Sofie V Eisum, BSc Med 35456135 anne-sofie.vibaek.eisum.01@regionh.dk
Contact: Freja Fornander, BSc Med 35456135 tove.freja.maria.fornander@regionh.dk
Denmark
 
 
NCT03018184
H-16045346
Yes
Not Provided
Plan to Share IPD: No
Anne-Sofie Vibæk Eisum, Rigshospitalet, Denmark
Rigshospitalet, Denmark
Not Provided
Principal Investigator: John Vissing, MD DMSc Copenhagen Neuromuscular Center, Rigshospitalet
Rigshospitalet, Denmark
January 2017