Inherited Muscle DiseasesNCT03018184
Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies
An observational study of Inherited Muscle Diseases and Congenital Myopathy, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
Trial summary
Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Inherited Muscle Diseases, Congenital Myopathy, RYR1-myopathy
- What is being tested?
- MRI and Muscle Dynamometer
- How many people
- 31 participants
- Where
- 1 siteDenmark
- Study dates
- Dec 2016to May 2018
- 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: Patients with verified inherited muscle disease.
Who may be able to join
- Verified inherited muscle disease.
- Age: Over 18 years old
Who cannot join
- Contraindications for an MRI.
- Claustrophobia.
- Pregnant or nursing women.
- Competing disorders (as arthritis) or other muscle disorders.
Trial locations and contacts
1 site in 1 country.
Denmark1 site
Copenhagen Neuromuscular Center, Rigshospitalet
Copenhagen, 2100
About this study
Official title: Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls
Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the thigh and calf in patients affected by inherited muscle diseases.
Read the detailed description
Patients with inherited muscle diseases can have several miscellaneous problems in their muscles, which can be both structural and metabolic. Depending on the specific disease multiple symptoms may be present. All the different diseases can affect the contractility of the muscles. Examples of inherited muscle diseases are congenital myopathies and RYR1-myopathy, afflicting the muscle fiber structure. They are the first subgroups of inherited muscle diseases to be investigated in this study. Congenital myopathies are hereditary and relatively non-progressive diseases. Hypotonia is the clinical characteristic of congenital myopathies and is often presented already in the neonatal period. Almost all patients have generalized muscle weakness and hypotonia. The various subtypes of congenital myopathy are a broad group of disorders defined by the predominance of particular and specific structural abnormalities shown in muscle biopsies. Based on genetic and morphological features, they can be divided into four main groups; one with central cores, one with central nuclei, one with minicores and one with nemaline bodies. RYR1-myopathy is caused by a mutation in the RYR-gene. The RYR1-protein is important in the making of RYR1-receptors and channels responsible for the transport of calcium atoms within muscle cells, particularly in muscle contractions. Patients typically present with limb weakness, decreased fetal movement and skeletal abnormalities. About 70% of patients with malignant hyperthermia have a mutation in the RYR1-gene. MRI findings often include involvement of different muscles in the thigh and the calf.
- Being tested
- MRI and Muscle Dynamometer
- Keywords
- MRI, CCSA, Contractile Cross Sectional Area, Strength
- Medical subject headings
- Myotonia Congenita
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MRI and Muscle DynamometerOther
What is being measured
The primary outcome is the main question the study is designed to answer.
Muscle CCSA, investigated by Dixon MRI techniques.
The MRI protocol include a whole body scan. The calf and thigh are chosen for qualitative analysis. Cross sectional area is calculated, the amount of adipose tissue is calculated, and the amount of adipose tissue is subtracted from the CSA, resulting in the CCSA.
Measured: MRI scan per subject lasts approximately 60 minutes.
Muscle strength, measured as peak torque, investigated by an isokinetic dynamometer (Biodex 4).
The dynamometer makes it possible to isolate particular muscle groups. It is possible to control the range of motion and thereby test in an area free of pain.
Measured: The tests takes less than an hour per subject.
Secondary outcomes (1)
Muscle Strength, MRC
Assessment of the muscle strength by a clinical test using "the Medical Research Council Scale for muscle strength" (MRC-scale).
Measured: The exam lasts less than 15 min per subject.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jan 2017 (estimated)
- Study startDec 2016
- Primary completionMay 2018
- Study completionMay 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Inherited Muscle DiseasesStudies 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 only
- Time perspective
- Cross-sectional
- Enrolment
- 31 participants (actual)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Anne-Sofie Vibæk Eisum, Copenhagen University Hospital, Rigshospitalet
- Investigators
- John Vissing, MD DMSc, Principal investigator, Copenhagen Neuromuscular Center, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03018184
- Sponsor's protocol ID
- H-16045346
- Status last verified
- Jul 2024
- First submitted
- 10 Jan 2017
- Last updated
- 15 Jul 2024
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No
Publications
Congenital Myopathies: Background, Pathophysiology, Epidemiology [Internet]. [henvist 18. oktober 2016]. Tilgængelig hos: http://emedicine.medscape.com/article/1175852-overview
Hilton-Jones D, Martin R. Turner. Oxford Textbook of Neuromuscular Disorders. I: Oxford Textbook of Neuromuscular Disorders. Oxford; s. 277-87.
Congenital Myopathies Clinical Presentation: History, Causes [Internet]. [henvist 18. oktober 2016]. Tilgængelig hos: http://emedicine.medscape.com/article/1175852-clinical
Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, Bittner C, Fialka-Moser V. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med. 2008 Aug;40(8):665-71. doi: 10.2340/16501977-0235.
PubMed 19020701Lokken N, Hedermann G, Thomsen C, Vissing J. Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I. Ann Neurol. 2016 Sep;80(3):466-71. doi: 10.1002/ana.24743. Epub 2016 Aug 10.
PubMed 27463532
Study at a glance
From the registry record, last updated by the sponsor on 15 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls
- ClinicalTrials.gov ID
- NCT03018184
- Acronym / sponsor ID
- H-16045346
- Keywords
- MRI, CCSA, Contractile Cross Sectional Area, Strength
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 31 participants (actual)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Study start
- Dec 2016
- Primary completion
- May 2018 (actual)
- Study completion
- May 2018 (actual)
- First posted
- 11 Jan 2017 (estimated)
- 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.
Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the thigh and calf in patients affected by inherited muscle diseases.
Detailed description
Patients with inherited muscle diseases can have several miscellaneous problems in their muscles, which can be both structural and metabolic. Depending on the specific disease multiple symptoms may be present. All the different diseases can affect the contractility of the muscles. Examples of inherited muscle diseases are congenital myopathies and RYR1-myopathy, afflicting the muscle fiber structure. They are the first subgroups of inherited muscle diseases to be investigated in this study. Congenital myopathies are hereditary and relatively non-progressive diseases. Hypotonia is the clinical characteristic of congenital myopathies and is often presented already in the neonatal period. Almost all patients have generalized muscle weakness and hypotonia. The various subtypes of congenital myopathy are a broad group of disorders defined by the predominance of particular and specific structural abnormalities shown in muscle biopsies. Based on genetic and morphological features, they can be divided into four main groups; one with central cores, one with central nuclei, one with minicores and one with nemaline bodies. RYR1-myopathy is caused by a mutation in the RYR-gene. The RYR1-protein is important in the making of RYR1-receptors and channels responsible for the transport of calcium atoms within muscle cells, particularly in muscle contractions. Patients typically present with limb weakness, decreased fetal movement and skeletal abnormalities. About 70% of patients with malignant hyperthermia have a mutation in the RYR1-gene. MRI findings often include involvement of different muscles in the thigh and the calf.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with verified inherited muscle disease.
Key inclusion criteria (2 listed)
- Verified inherited muscle disease.
- Age: Over 18 years old
Key exclusion criteria (4 listed)
- Contraindications for an MRI.
- Claustrophobia.
- Pregnant or nursing women.
- Competing disorders (as arthritis) or other muscle disorders.
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 |
|---|---|---|
| MRI and Muscle Dynamometer | Other | – |
Primary outcome
Muscle CCSA, investigated by Dixon MRI techniques.
Time frame: MRI scan per subject lasts approximately 60 minutes.
The MRI protocol include a whole body scan. The calf and thigh are chosen for qualitative analysis. Cross sectional area is calculated, the amount of adipose tissue is calculated, and the amount of adipose tissue is subtracted from the CSA, resulting in the CCSA.
Muscle strength, measured as peak torque, investigated by an isokinetic dynamometer (Biodex 4).
Time frame: The tests takes less than an hour per subject.
The dynamometer makes it possible to isolate particular muscle groups. It is possible to control the range of motion and thereby test in an area free of pain.
1 secondary outcome
Muscle Strength, MRC
Time frame: The exam lasts less than 15 min per subject.
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 15 Jul 2024.
- BackgroundCongenital Myopathies: Background, Pathophysiology, Epidemiology [Internet]. [henvist 18. oktober 2016]. Tilgængelig hos: http://emedicine.medscape.com/article/1175852-overview
- BackgroundHilton-Jones D, Martin R. Turner. Oxford Textbook of Neuromuscular Disorders. I: Oxford Textbook of Neuromuscular Disorders. Oxford; s. 277-87.
- BackgroundCongenital Myopathies Clinical Presentation: History, Causes [Internet]. [henvist 18. oktober 2016]. Tilgængelig hos: http://emedicine.medscape.com/article/1175852-clinical
- Background: PubMed 19020701Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, Bittner C, Fialka-Moser V. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med. 2008 Aug;40(8):665-71. doi: 10.2340/16501977-0235.
- Background: PubMed 27463532Lokken N, Hedermann G, Thomsen C, Vissing J. Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I. Ann Neurol. 2016 Sep;80(3):466-71. doi: 10.1002/ana.24743. Epub 2016 Aug 10.
- 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.
John Vissing, MD DMSc principal investigator
Copenhagen Neuromuscular Center, 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 Inherited Muscle Diseases and Congenital Myopathy, 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 15 Jul 2024. 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?
Muscle CCSA, investigated by Dixon MRI techniques. (time frame: MRI scan per subject lasts approximately 60 minutes.). The study lists 2 primary outcomes in all. 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 NCT03018184, which also lists 5 linked publications.
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 15 Jul 2024.