Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia

NCT ID: NCT04799366

Last Updated: 2023-03-30

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 36 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-02-01
• Study Completion Date: 2021-12-01

Brief Summary

In myotonia congenita (MC), mutations in the CLCN1 gene coding a key chloride channel expressed in muscle cells cause myotonia. On examination, the myotonia can be demonstrated as delayed muscle relaxation of muscle contractions after mechanical stimulations. Existing literature describe no muscle weakness in MC patients, however a recent muscle MRI study in non-dystrophic myotonia patients found structural abnormalities in affected muscles when examined using T1 and STIR imaging. The question remains whether the signs of structural changes in the muscle are merely due to the myotonia, or long-term effects of elevated stress of the tissue, and if so, whether those changes lead to clinically significant loss of contractile properties of the muscle.

This study examines if the contractile properties of myotonic muscles are impaired in MC patients. 40 patients with Thomsens disease (n=20) and Beckers disease (n=20), respectively, will be included along with 20 healthy controls. Peak muscle torque is measured in the hand by hand dynamometer and in the thigh and calf muscles with a Biodex System 4 Pro Dynamometer and the cross-sectional area of the muscles are examined on T1-weighed and Dixon-MRI-scan. With the obtained data peak torque in strength tests, muscle hypertrophy, fat fraction in muscle tissue and contractility of the muscles, compared with healthy controls, will be assessed.

Conditions

Non-Dystrophic Myotonia; Myotonia Congenita

Study Design

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

Study Groups

MC

MC patients with either dominant (Thomsens) or recessive (Becker) myotonia.

No interventions assigned to this group

Healthy Controls

Healthy controls age- and gender matched.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Age <18 years
• Molecularly verified MC (Thomsens or Beckers disease)

Exclusion Criteria

• Conditions that may impair results of the study, evaluated by the investigator
• Clausphobia
• Pregnancy or breastfeeding
• Metallic objects in and around the body that are not MR-compatible

• 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

Laura Nørager Jacobsen

BSc

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Laura Jacobsen, BSc

Role: PRINCIPAL_INVESTIGATOR

Rigshospitalet, Denmark

Locations

Rigshospitalet

Copenhagen, , Denmark

Countries

Denmark

Other Identifiers

H-18023049-1

Identifier Type: -

Identifier Source: org_study_id