An observational study in Becker Muscular Dystrophy, FSHD - Facioscapulohumeral Muscular Dystrophy and Hypokalemic Periodic Paralysis, sponsored by Copenhagen University Hospital, Rigshospitalet. Not yet recruiting. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-04-08.
Sponsored by Copenhagen University Hospital, Rigshospitalet · Observational
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.
480 studies on the registry are indexed under Muscular Dystrophy, Duchenne; 109 are open to participants now.
This study's planned enrollment of 120 is above the median of 60 across 134 observational studies indexed under Muscular Dystrophy, Duchenne.
Browse Muscular Dystrophy, Duchenne studies →Copenhagen University Hospital, Rigshospitalet is the lead sponsor of 35 studies on the registry; 11 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients will be recruited from Copenhagen Neuromuscular Centre.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
MRI scans
Other: No intervention
MRI scans
Other: No intervention
MRI scans
Other: No intervention
No intervention.
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.
Time frame: Analysis of the muscle fat fraction takes 1 hour per patient.
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.
Time frame: The analysis of the MRI takes around an hour
No study locations are listed for this record.
Plan to share: Undecided
No publications or documents are linked to this record.
Start is estimated for May 2025; primary completion for Jan 2035, 116 months later.
How these figures are worked out, and which studies are left out of them.
This study is not yet recruiting, as verified in Apr 2025. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Muscular Dystrophy, Duchenne →
Copenhagen University Hospital, Rigshospitalet