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

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

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.

Condition or disease	Intervention/treatment
Inherited Muscle Diseases; Congenital Myopathy; RYR1-myopathy	Other: MRI and Muscle Dynamometer

Detailed Description:

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.

Study Design

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type :	Observational
Estimated Enrollment :	200 participants
Observational Model:	Case-Only
Time Perspective:	Cross-Sectional
Official Title:	Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases as Compared to Healthy Individuals
Study Start Date :	December 2016
Estimated Primary Completion Date :	December 2017
Estimated Study Completion Date :	December 2026

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :

1. 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.
2. 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.

Secondary Outcome Measures :

1. 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).

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	18 Years to 80 Years (Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Patients with verified inherited muscle disease.

Criteria

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.

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Contacts

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

Locations

Denmark
Copenhagen Neuromuscular Center, Rigshospitalet	Recruiting
Copenhagen, Denmark, 2100
Contact: Anne-Sofie V Eisum, Bach. Med. 35458748 anne-sofie.vibaek.eisum.01@regionh.dk

Sponsors and Collaborators

Rigshospitalet, Denmark

Investigators

Principal Investigator:	John Vissing, MD DMSc	Copenhagen Neuromuscular Center, Rigshospitalet

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Publications:

Congenital Myopathies: Background, Pathophysiology, Epidemiology [Internet]. [henvist 18. oktober 2016]. Tilgængelig hos: http://emedicine.medscape.com/article/1175852-overview

Hilton-Jones D, Martin R. Turner. Oxford Textbook of Neuromuscular Disorders. I: Oxford Textbook of Neuromuscular Disorders. Oxford; s. 277-87.

Congenital Myopathies Clinical Presentation: History, Causes [Internet]. [henvist 18. oktober 2016]. Tilgængelig hos: http://emedicine.medscape.com/article/1175852-clinical

Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, Bittner C, Fialka-Moser V. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med. 2008 Aug;40(8):665-71. doi: 10.2340/16501977-0235.

Løkken N, Hedermann G, Thomsen C, Vissing J. Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I. Ann Neurol. 2016 Sep;80(3):466-71. doi: 10.1002/ana.24743. Epub 2016 Aug 10.

Responsible Party:	Anne-Sofie Vibæk Eisum, BSc Med., Rigshospitalet, Denmark
ClinicalTrials.gov Identifier:	NCT03018184 History of Changes
Other Study ID Numbers:	H-16045346
First Posted:	January 11, 2017
Last Update Posted:	January 12, 2017
Last Verified:	January 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	No

Keywords provided by Anne-Sofie Vibæk Eisum, Rigshospitalet, Denmark:

MRI; CCSA; Contractile Cross Sectional Area; Strength

Additional relevant MeSH terms:

Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases