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

Sponsor

Rigshospitalet, Denmark (Other)

Overall Status

Recruiting

CT.gov ID

NCT04808388

Collaborator

(none)

Enrollment

Location

10.9

Anticipated Duration (Months)

2.3

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Paramyotonia Congenita Nondystrophic Myotonia	Other: MRI

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 Design

Study Type:

Observational

Anticipated Enrollment :

25 participants

Observational Model:

Case-Control

Time Perspective:

Cross-Sectional

Official Title:

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.

Actual Study Start Date :

Feb 2, 2021

Anticipated Primary Completion Date :

Dec 30, 2021

Anticipated Study Completion Date :

Dec 31, 2021

Outcome Measures

Primary Outcome Measures

Contractile properties [1 year]
Contractility = strength (kg) divided with cross sectional area of the muscle (CCSA)

Secondary Outcome Measures

Muscle strength [1 year]
Peak torque (maximal contraction in kg) accessed from isometric dynamometry
Cross sectional area (CCSA) [1 year]
By using MRI to visualize the muscle

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

18 years of age
Diagnosed with non-dystrophic myotonia

Exclusion Criteria:

MRI contraindications

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Neuromuscular Center Rigshospitalet	Copenhagen		Denmark

Sponsors and Collaborators

Rigshospitalet, Denmark

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Jonas Jalili Pedersen, Student, Rigshospitalet, Denmark

ClinicalTrials.gov Identifier:

NCT04808388

Other Study ID Numbers:

H-18023049(2)

First Posted:

Mar 22, 2021

Last Update Posted:

Sep 16, 2021

Last Verified:

Sep 1, 2021

Individual Participant Data (IPD) Sharing Statement:

Undecided

Plan to Share IPD:

Undecided

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Myotonic Disorders

Myotonia

Study Results

No Results Posted as of Sep 16, 2021