Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence

Rigshospitalet

Status: Not yet enrolling

Conditions: FSHD - Facioscapulohumeral Muscular Dystrophy; Hypokalemic Periodic Paralysis; Becker Muscular Dystrophy

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT06917430

115991

Details and patient eligibility

About

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.

Enrollment: 120 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

120 participants in 3 patient groups

Becker muscular dystrophy

Description:

MRI scans

Treatment:

Other: No intervention

HypoPP

Description:

MRI scans

Treatment:

Other: No intervention

FSHD

Description:

MRI scans

Treatment:

Other: No intervention