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NCT Number: NCT06917430

Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence

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.

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Key information

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Genetically verified diagnosis of neuromuscular diseases.
  • Age above 18 years

Exclusion criteria

  • 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

Treatment and study plan

No intervention

Other

No intervention.

Primary outcomes

  1. 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.

Secondary outcomes

  1. Correlation between Manual/AI outlining discrepancies and disease severity

    Time frame: The analysis of the MRI takes around an hour

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Bjørk Teitsdóttir, Medical student

CONTACT

[email protected]

+4535456135

John Vissing, Professor

CONTACT

Sponsors and collaborators

Lead sponsor

Rigshospitalet, Denmark

Other

Registry information

Important dates

Study start
2025
Primary completion
2035
Study completion
2035
First posted
Apr 8, 2025
Registry last updated
Apr 8, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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