Becker Muscular DystrophyNCT06917430
Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence
An observational study of Becker Muscular Dystrophy and FSHD - Facioscapulohumeral Muscular Dystrophy, run by Copenhagen University Hospital, Rigshospitalet.
Trial summary
Background and aim: Neuromuscular diseases encompass a range of conditions affecting muscle cells, nerves, or the interaction between the two. A common pathological feature of these conditions is the pro-gressive replacement of muscle tissue with fat, which can be visualised using magnetic reso-nance imaging (MRI). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Becker Muscular Dystrophy, FSHD - Facioscapulohumeral Muscular Dystrophy, Hypokalemic Periodic Paralysis
- How many people
- 120 participants
- Where
- No sites listed yet
- Study dates
- 1 May 2025to 1 Jan 2035
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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
- No healthy volunteers
- Adult, Older adult
Study population: Patients will be recruited from Copenhagen Neuromuscular Centre.
Who may be able to join
- Genetically verified diagnosis of neuromuscular diseases.
- Age above 18 years
Who cannot join
- Contraindications to perform an MRI
- Competing disorders and other muscle disorders, which may alter measurements. The investigator will decide whether the competing disorder can significantly influence the results
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
John Vissing, Professor contact
About this study
Background and aim:
Neuromuscular diseases encompass a range of conditions affecting muscle cells, nerves, or the interaction between the two. A common pathological feature of these conditions is the pro-gressive replacement of muscle tissue with fat, which can be visualised using magnetic reso-nance imaging (MRI). MRI-based fat quantification serves as a key biomarker for disease characterisation, progression tracking, and treatment assessment. Currently, manual segmenta-tion of MRI scans for fat quantification is very time-consuming, requiring individual muscle delineation. Therefore, an artificial intelligence (AI) model is being developed to automate the segmentation. The aim of this study is to validate this AI model and assess its possibilities and limitations.
Read more
Method:
The study is ongoing. Retrospective MRI scans of patients with four different muscle diseases (anoctaminopathy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and hypokalemic periodic paralysis) are collected and manual delineation used for training the AI-model is being performed. The intramuscular fat fraction of individual muscles of the pelvis, thigh, and calf will be analysed using the AI model. The performance of the AI model will be compared to manual segmentation. The AI will be evaluated on metrics such as segmentation accuracy and time efficiency.
- Conditions
- Becker Muscular Dystrophy, FSHD - Facioscapulohumeral Muscular Dystrophy, Hypokalemic Periodic Paralysis
- Being tested
- No intervention
- Keywords
- AI, muscle delineation, automated segmentation, Becker muscular dystrophy, FSHD, HypoPP
- Medical subject headings
- Muscular Dystrophy, Duchenne, Muscular Dystrophy, Facioscapulohumeral, Hypokalemic Periodic Paralysis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
No intervention.
| Study group | Role | What they receive |
|---|---|---|
| Becker muscular dystrophy | MRI scans Receives: Other: No intervention | |
| HypoPP | MRI scans Receives: Other: No intervention | |
| FSHD | MRI scans Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Difference in fat fraction between manual and AI outlining.
The mean difference in MRI assessed intramuscular fat fraction in the lower back, thigh, and calf muscles between manual outlining and the outlining by the AI model.
Measured: Analysis of the muscle fat fraction takes 1 hour per patient.
Secondary outcomes (1)
Correlation between Manual/AI outlining discrepancies and disease severity
Investigate if the difference between manual outlining and AI outlining increases the more advanced stage the disease is. A correlation analysis will be made between manual/AI differences and fat fraction in lower back, thigh, and calf.
Measured: The analysis of the MRI takes around an hour
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Apr 2025
- Study start1 May 2025 (estimated)
- Primary completion1 Jan 2035 (estimated)
- Study completion1 Jan 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Becker Muscular DystrophyStudies 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
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 120 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Bjørk Teitsdóttir, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06917430
- Sponsor's protocol ID
- 115991
- Status last verified
- Apr 2025
- First submitted
- 1 Apr 2025
- Last updated
- 8 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence
- ClinicalTrials.gov ID
- NCT06917430
- Acronym / sponsor ID
- 115991
- Conditions
- Becker Muscular Dystrophy, FSHD - Facioscapulohumeral Muscular Dystrophy, Hypokalemic Periodic Paralysis
- Keywords
- AI, muscle delineation, automated segmentation, Becker muscular dystrophy, FSHD, HypoPP
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 120 participants (estimated)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Study start
- 1 May 2025 (estimated)
- Primary completion
- 1 Jan 2035 (estimated)
- Study completion
- 1 Jan 2035 (estimated)
- First posted
- 8 Apr 2025 (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.
Background and aim:
Neuromuscular diseases encompass a range of conditions affecting muscle cells, nerves, or the interaction between the two. A common pathological feature of these conditions is the pro-gressive replacement of muscle tissue with fat, which can be visualised using magnetic reso-nance imaging (MRI). MRI-based fat quantification serves as a key biomarker for disease characterisation, progression tracking, and treatment assessment. Currently, manual segmenta-tion of MRI scans for fat quantification is very time-consuming, requiring individual muscle delineation. Therefore, an artificial intelligence (AI) model is being developed to automate the segmentation. The aim of this study is to validate this AI model and assess its possibilities and limitations.
Method:
The study is ongoing. Retrospective MRI scans of patients with four different muscle diseases (anoctaminopathy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and hypokalemic periodic paralysis) are collected and manual delineation used for training the AI-model is being performed. The intramuscular fat fraction of individual muscles of the pelvis, thigh, and calf will be analysed using the AI model. The performance of the AI model will be compared to manual segmentation. The AI will be evaluated on metrics such as segmentation accuracy and time efficiency.
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Becker muscular dystrophy | – | Other: No interventionMRI scans |
| HypoPP | – | Other: No interventionMRI scans |
| FSHD | – | Other: No interventionMRI scans |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients will be recruited from Copenhagen Neuromuscular Centre.
Key inclusion criteria (2 listed)
- Genetically verified diagnosis of neuromuscular diseases.
- Age above 18 years
Key exclusion criteria (2 listed)
- Contraindications to perform an MRI
- Competing disorders and other muscle disorders, which may alter measurements. The investigator will decide whether the competing disorder can significantly influence the results
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 |
|---|---|---|
| No interventionNo intervention. | Other | Becker muscular dystrophy, FSHD, HypoPP |
Primary outcome
Difference in fat fraction between manual and AI outlining.
Time frame: Analysis of the muscle fat fraction takes 1 hour per patient.
The mean difference in MRI assessed intramuscular fat fraction in the lower back, thigh, and calf muscles between manual outlining and the outlining by the AI model.
1 secondary outcome
Correlation between Manual/AI outlining discrepancies and disease severity
Time frame: The analysis of the MRI takes around an hour
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2025.
- Individual participant dataSharing planned: Undecided
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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.
John Vissing, Professor contact
Questions about this trial
What is this clinical trial studying?
An observational study of Becker Muscular Dystrophy and FSHD - Facioscapulohumeral Muscular Dystrophy, run by Copenhagen University Hospital, Rigshospitalet.
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 2 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: opening soon, as of the sponsor's last update on 8 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Bjørk Teitsdóttir, Medical student (+4535456135, bjoerk.teitsdottir@regionh.dk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Difference in fat fraction between manual and AI outlining. (time frame: Analysis of the muscle fat fraction takes 1 hour per patient.). 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 8 Apr 2025.