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

NCT ID: NCT03018184

Last Updated: 2024-07-15

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 31 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-12-31
• Study Completion Date: 2018-05-31

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.

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.

Conditions

Inherited Muscle Diseases; Congenital Myopathy; RYR1-myopathy

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: CROSS_SECTIONAL

Interventions

MRI and Muscle Dynamometer

Intervention Type: OTHER

Eligibility 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.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Rigshospitalet, Denmark

OTHER

Sponsor Role: lead

Responsible Party

Anne-Sofie Vibæk Eisum

BSc Med.

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

John Vissing, MD DMSc

Role: PRINCIPAL_INVESTIGATOR

Copenhagen Neuromuscular Center, Rigshospitalet

Locations

Copenhagen Neuromuscular Center, Rigshospitalet

Copenhagen, , Denmark

Countries

Denmark

References

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

Reference Type: BACKGROUND

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

Reference Type: BACKGROUND

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

Reference Type: BACKGROUND

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.

Reference Type: BACKGROUND

PMID: 19020701 (View on PubMed)

Lokken 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.

Reference Type: BACKGROUND

PMID: 27463532 (View on PubMed)

Other Identifiers

H-16045346

Identifier Type: -

Identifier Source: org_study_id