Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies

Congenital Myopathy Clinical Trial

Official title:

Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03018184
• Other study ID #: H-16045346
• Status: Active, not recruiting
• Start date: December 2016
• Est. completion date: December 2026

Study information

• Verified date: April 2019
• Source: Rigshospitalet, Denmark
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 200
• Est. completion date: December 2026
• Est. primary completion date: August 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

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.

Related Conditions & MeSH terms

• Congenital Myopathy
• Inherited Muscle Diseases
• Muscular Diseases
• RYR1-myopathy

Intervention

Other:
• MRI and Muscle Dynamometer

Locations

Country	Name	City	State
Denmark	Copenhagen Neuromuscular Center, Rigshospitalet	Copenhagen

Sponsors (1)

Lead Sponsor	Collaborator
Rigshospitalet, Denmark

Country where clinical trial is conducted

Denmark, 

References & Publications (5)

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

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.

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Muscle CCSA, investigated by Dixon MRI techniques.	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.	MRI scan per subject lasts approximately 60 minutes.
Primary	Muscle strength, measured as peak torque, investigated by an isokinetic dynamometer (Biodex 4).	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.	The tests takes less than an hour per subject.
Secondary	Muscle Strength, MRC	Assessment of the muscle strength by a clinical test using "the Medical Research Council Scale for muscle strength" (MRC-scale).	The exam lasts less than 15 min per subject.