Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence

NCT ID: NCT06917430

Last Updated: 2025-04-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

120 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-05-01

Study Completion Date

2035-01-01

Brief Summary

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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.

Detailed Description

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Conditions

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Becker Muscular Dystrophy FSHD - Facioscapulohumeral Muscular Dystrophy Hypokalemic Periodic Paralysis

Study Design

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Observational Model Type

OTHER

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Becker muscular dystrophy

MRI scans

No intervention

Intervention Type OTHER

No intervention.

HypoPP

MRI scans

No intervention

Intervention Type OTHER

No intervention.

FSHD

MRI scans

No intervention

Intervention Type OTHER

No intervention.

Interventions

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No intervention

No intervention.

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Rigshospitalet, Denmark

OTHER

Sponsor Role lead

Responsible Party

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Bjørk Teitsdóttir

Stud.med

Responsibility Role PRINCIPAL_INVESTIGATOR

Central Contacts

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Bjørk Teitsdóttir, Medical student

Role: CONTACT

+4535456135

John Vissing, Professor

Role: CONTACT

Other Identifiers

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115991

Identifier Type: -

Identifier Source: org_study_id

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