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

NCT ID: NCT04808388

Last Updated: 2021-09-16

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 25 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-02-02
• Study Completion Date: 2021-12-31

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.

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.

Conditions

Paramyotonia Congenita; Nondystrophic Myotonia

Study Design

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

Interventions

MRI

Using MRI for fat fraction and Biodex for isometric strength

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• MRI contraindications

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Rigshospitalet, Denmark

OTHER

Sponsor Role: lead

Responsible Party

Jonas Jalili Pedersen

Student

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Neuromuscular Center Rigshospitalet

Copenhagen, , Denmark

Site Status: RECRUITING

Countries

Denmark

Facility Contacts

Jonas Pedersen, Student

Role: primary

Jalilijonas@gmail.com

+4522337712 ext. +45

Role: backup

+4522337712

References

Pedersen JJ, Stemmerik MG, Jacobsen LN, Skriver SV, Wilms GR, Duno M, Vissing J. Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders. Sci Rep. 2023 Feb 13;13(1):2538. doi: 10.1038/s41598-023-29759-7.

Reference Type: DERIVED

PMID: 36782059 (View on PubMed)

Other Identifiers

H-18023049(2)

Identifier Type: -

Identifier Source: org_study_id