Paramyotonia CongenitaNCT04808388
Using MRI in Patients With Non-dystrophic Myotonia to Access Muscle Contractility
An observational study of Paramyotonia Congenita and Nondystrophic Myotonia, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Paramyotonia Congenita, Nondystrophic Myotonia
- What is being tested?
- MRI
- How many people
- 25 participants
- Where
- 1 siteDenmark
- Study dates
- 2 Feb 2021to 31 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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Paramyotonia congenita (prevalence 50-100)
Who may be able to join
- 18 years of age
- Diagnosed with non-dystrophic myotonia
Who cannot join
- MRI contraindications
Trial locations and contacts
1 site in 1 country.
Denmark1 site, 1 recruiting
- Recruiting
Neuromuscular Center Rigshospitalet
Copenhagen
Jonas Pedersen, Student, +4522337712 ext. +45, Jalilijonas@gmail.com
+4522337712
About this study
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.
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.
Read the 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
- Being tested
- MRI
- Medical subject headings
- Myotonic Disorders, Nondystrophic myotonia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MRIOther
Using MRI for fat fraction and Biodex for isometric strength
What is being measured
The primary outcome is the main question the study is designed to answer.
Contractile properties
Contractility = strength (kg) divided with cross sectional area of the muscle (CCSA)
Measured: 1 year
Secondary outcomes (2)
Muscle strength
Peak torque (maximal contraction in kg) accessed from isometric dynamometry
Measured: 1 year
Cross sectional area (CCSA)
By using MRI to visualize the muscle
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 posted22 Mar 2021
- Study start2 Feb 2021
- Primary completion30 Dec 2021 (estimated)
- Study completion31 Dec 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Paramyotonia CongenitaStudies 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
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jonas Jalili Pedersen, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04808388
- Sponsor's protocol ID
- H-18023049(2)
- Status last verified
- Sep 2021
- First submitted
- 15 Mar 2021
- Last updated
- 16 Sep 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 36782059
Study at a glance
From the registry record, last updated by the sponsor on 16 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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.
- ClinicalTrials.gov ID
- NCT04808388
- Acronym / sponsor ID
- H-18023049(2)
- Conditions
- Paramyotonia Congenita, Nondystrophic Myotonia
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Study start
- 2 Feb 2021 (actual)
- Primary completion
- 30 Dec 2021 (estimated)
- Study completion
- 31 Dec 2021 (estimated)
- First posted
- 22 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.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Paramyotonia congenita (prevalence 50-100)
Key inclusion criteria (2 listed)
- 18 years of age
- Diagnosed with non-dystrophic myotonia
Key exclusion criteria (1 listed)
- MRI contraindications
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MRIUsing MRI for fat fraction and Biodex for isometric strength | Other | – |
Primary outcome
Contractile properties
Time frame: 1 year
Contractility = strength (kg) divided with cross sectional area of the muscle (CCSA)
2 secondary outcomes
Muscle strength
Time frame: 1 year
Cross sectional area (CCSA)
Time frame: 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Sep 2021.
- Derived from this study: PubMed 36782059Pedersen 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.
- Individual participant dataSharing planned: Undecided
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.
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 Paramyotonia Congenita and Nondystrophic Myotonia, 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 1 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: status not confirmed, as of the sponsor's last update on 16 Sep 2021. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. 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?
On the ClinicalTrials.gov record for NCT04808388, which also lists 1 linked publication.
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 16 Sep 2021.