Non-Dystrophic MyotoniaNCT04799366
Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia
An observational study of Non-Dystrophic Myotonia and Myotonia Congenita, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Non-Dystrophic Myotonia, Myotonia Congenita
- How many people
- 36 participants
- Where
- 1 siteDenmark
- Study dates
- 1 Feb 2021to 1 Dec 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 40 patients (Thomsens MC, n=20; Beckers MC, n=20) will be included along with 20 healthy age- and gender-matched controls. Inclusion criteria are age >18 years, verified MC diagnosis. Exclusion criteria areknown competing disorders that can interfere with the results (ie. muscular diseases or arthritis) or MRI contraindications. Before participation patients are asked about medication status. Participants who are treated for their myotonic symptoms with either Mexiletin or Lamotrigin are asked to pause their medication four days prior to participation. All patients will be asked to evaluate the severity of their myotonic symptoms using the MBS (Myotonic Behaviour Scale) rating from 1 (least severe) to 6 (most severe).
Who may be able to join
- Age <18 years
- Molecularly verified MC (Thomsens or Beckers disease)
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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
- Medical subject headings
- Myotonia Congenita
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| MC | MC patients with either dominant (Thomsens) or recessive (Becker) myotonia. | |
| Healthy Controls | Healthy controls age- and gender matched. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Contractile properties
To investigate if contractile properties of the muscles are impaired in MC patients compared with healthy controls.
Measured: 1 year
Secondary outcomes (1)
Measuring muscle hypertrophy in upper and lower limbs
Visualizing and measuring hypertrophy on MRI of affected muscles in the forearm, thigh and calf of MC patients compared with muscles in healthy controls.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Mar 2021
- Study start1 Feb 2021
- Primary completion1 Dec 2021
- Study completion1 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Non-Dystrophic MyotoniaStudies of the same condition, open and under way.
- More trials run by Copenhagen University Hospital, RigshospitaletThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 36 participants (actual)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Laura Nørager Jacobsen, Copenhagen University Hospital, Rigshospitalet
- Investigators
- Laura Jacobsen, BSc, Principal investigator, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04799366
- Sponsor's protocol ID
- H-18023049-1
- Status last verified
- Mar 2023
- First submitted
- 11 Mar 2021
- Last updated
- 30 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia
- ClinicalTrials.gov ID
- NCT04799366
- Acronym / sponsor ID
- H-18023049-1
- Conditions
- Non-Dystrophic Myotonia, Myotonia Congenita
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 36 participants (actual)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Study start
- 1 Feb 2021 (actual)
- Primary completion
- 1 Dec 2021 (actual)
- Study completion
- 1 Dec 2021 (actual)
- First posted
- 16 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| MC | – | –MC patients with either dominant (Thomsens) or recessive (Becker) myotonia. |
| Healthy Controls | – | –Healthy controls age- and gender matched. |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 40 patients (Thomsens MC, n=20; Beckers MC, n=20) will be included along with 20 healthy age- and gender-matched controls. Inclusion criteria are age >18 years, verified MC diagnosis. Exclusion criteria areknown competing disorders that can interfere with the results (ie. muscular diseases or arthritis) or MRI contraindications. Before participation patients are asked about medication status. Participants who are treated for their myotonic symptoms with either Mexiletin or Lamotrigin are asked to pause their medication four days prior to participation. All patients will be asked to evaluate the severity of their myotonic symptoms using the MBS (Myotonic Behaviour Scale) rating from 1 (least severe) to 6 (most severe).
Key inclusion criteria (2 listed)
- Age <18 years
- Molecularly verified MC (Thomsens or Beckers disease)
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Contractile properties
Time frame: 1 year
To investigate if contractile properties of the muscles are impaired in MC patients compared with healthy controls.
1 secondary outcome
Measuring muscle hypertrophy in upper and lower limbs
Time frame: 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Mar 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laura Jacobsen, BSc principal investigator
Copenhagen University Hospital, Rigshospitalet
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Non-Dystrophic Myotonia and Myotonia Congenita, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 30 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Contractile properties (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Mar 2023.