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

July 12, 2024 updated by: Anne-Sofie Vibæk Eisum, Rigshospitalet, Denmark

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

31

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Denmark
      • Copenhagen, Denmark, 2100
        • Copenhagen Neuromuscular Center, Rigshospitalet

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 80 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with verified inherited muscle disease.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
MRI scan per subject lasts approximately 60 minutes.
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.
The tests takes less than an hour per subject.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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).
The exam lasts less than 15 min per subject.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Rigshospitalet, Denmark

Investigators

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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

December 1, 2016

Primary Completion (Actual)

May 1, 2018

Study Completion (Actual)

May 1, 2018

Study Registration Dates

First Submitted

January 10, 2017

First Submitted That Met QC Criteria

January 10, 2017

First Posted (Estimated)

January 11, 2017

Study Record Updates

Last Update Posted (Actual)

July 15, 2024

Last Update Submitted That Met QC Criteria

July 12, 2024

Last Verified

July 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • H-16045346

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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