Using MRI in Patients With Non-dystrophic Myotonia to Access Muscle Contractility

September 14, 2021 updated by: Jonas Jalili Pedersen, Rigshospitalet, Denmark

Using MRI to Quantify Fatty Infiltration in Muscle Tissue, and Compare it to Isometric Muscle Strength Measurements and (2) Use Questionnaires, Systemic Interview and Simple Myotonic Bed-side Tests to Describe the Phenotype.

The aim of this project is (1) to investigate whether or not structural muscle abnormalities could be a consequence of the disorder and (2) to provide further clinical description of this rare phenotype. To do so, the investigators will (1) use Dixon MRI to quantify fatty infiltration in muscle tissue and compare it to muscle strength measurements from isometric dynamometry in order to access contractility and (2) describe the myotonic phenotype with simple squeeze test and questionnaires.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Non-dystrophic myotonias are rare genetic diseases in which the membrane excitability is altered by mutations in genes encoding muscle ion channels.

Patients suffer from myotonic stiffness, pain, fatigue and sometimes paralysis. Non-dystrophic myotonia is distinct from myotonic dystrophies with the absence of muscle degeneration.

Paramyotonica congenita is characterzied by paradoxial myotonia, which, in contrast to the more common myotonia congenita, is myotonic stiffness that worsens with activity. Typically, the first few contractions seem normal, whereas repetition leads to severe stiffness. Our hypophysis is that these patient might also suffer from muscle degeneration.

Study Type

Observational

Enrollment (Anticipated)

25

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
        • Recruiting
        • Neuromuscular Center Rigshospitalet
        • Contact:
        • Contact:
          • Phone Number: +4522337712

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

14 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Paramyotonia congenita (prevalence 50-100)

Description

Inclusion Criteria:

  • 18 years of age
  • Diagnosed with non-dystrophic myotonia

Exclusion Criteria:

  • MRI contraindications

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

  • Observational Models: Case-Control
  • Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Contractile properties
Time Frame: 1 year
Contractility = strength (kg) divided with cross sectional area of the muscle (CCSA)
1 year

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Muscle strength
Time Frame: 1 year
Peak torque (maximal contraction in kg) accessed from isometric dynamometry
1 year
Cross sectional area (CCSA)
Time Frame: 1 year
By using MRI to visualize the muscle
1 year

Collaborators and Investigators

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

Sponsor

Rigshospitalet, Denmark

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 (Actual)

February 2, 2021

Primary Completion (Anticipated)

December 30, 2021

Study Completion (Anticipated)

December 31, 2021

Study Registration Dates

First Submitted

March 15, 2021

First Submitted That Met QC Criteria

March 18, 2021

First Posted (Actual)

March 22, 2021

Study Record Updates

Last Update Posted (Actual)

September 16, 2021

Last Update Submitted That Met QC Criteria

September 14, 2021

Last Verified

September 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • H-18023049(2)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

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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