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

Paramyotonia Congenita Clinical Trial

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.

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04808388
• Other study ID #: H-18023049(2)
• Status: Recruiting
• Start date: February 2, 2021
• Est. completion date: December 31, 2021

Study information

• Verified date: September 2021
• Source: Rigshospitalet, Denmark
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 25
• Est. completion date: December 31, 2021
• Est. primary completion date: December 30, 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• MRI contraindications

Related Conditions & MeSH terms

• Myotonia
• Myotonic Disorders
• Nondystrophic Myotonia
• Paramyotonia Congenita

Intervention

Other:
• MRI
Using MRI for fat fraction and Biodex for isometric strength

Locations

Country	Name	City	State
Denmark	Neuromuscular Center Rigshospitalet	Copenhagen

Sponsors (1)

Lead Sponsor	Collaborator
Rigshospitalet, Denmark

Country where clinical trial is conducted

Denmark, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Contractile properties	Contractility = strength (kg) divided with cross sectional area of the muscle (CCSA)	1 year
Secondary	Muscle strength	Peak torque (maximal contraction in kg) accessed from isometric dynamometry	1 year
Secondary	Cross sectional area (CCSA)	By using MRI to visualize the muscle	1 year