NCT04808388

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
25

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Feb 2021

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 2, 2021

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

March 15, 2021

Completed
7 days until next milestone

First Posted

Study publicly available on registry

March 22, 2021

Completed
9 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 30, 2021

Completed
1 day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2021

Completed
Last Updated

September 16, 2021

Status Verified

September 1, 2021

Enrollment Period

11 months

First QC Date

March 15, 2021

Last Update Submit

September 14, 2021

Conditions

Paramyotonia CongenitaNondystrophic Myotonia

Outcome Measures

Primary Outcomes (1)

  • Contractile properties

    Contractility = strength (kg) divided with cross sectional area of the muscle (CCSA)

    1 year

Secondary Outcomes (2)

  • Muscle strength

    1 year

  • Cross sectional area (CCSA)

    1 year

Interventions

MRIOTHER

Using MRI for fat fraction and Biodex for isometric strength

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Paramyotonia congenita (prevalence 50-100)

You may qualify if:

  • years of age
  • Diagnosed with non-dystrophic myotonia

You may not qualify if:

  • MRI contraindications

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Neuromuscular Center Rigshospitalet

Copenhagen, Denmark

RECRUITING

Related Publications (1)

  • 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.

    PMID: 36782059DERIVED

MeSH Terms

Conditions

Myotonic DisordersNondystrophic myotonia

Condition Hierarchy (Ancestors)

Muscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System Diseases

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Student

Study Record Dates

First Submitted

March 15, 2021

First Posted

March 22, 2021

Study Start

February 2, 2021

Primary Completion

December 30, 2021

Study Completion

December 31, 2021

Last Updated

September 16, 2021

Record last verified: 2021-09

Locations

DK(1)