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One-Year Longitudinal Assessment of Patients With CMT1A Using Quantitative MRI.

Etienne Fortanier¹, Marc Adrien Hostin¹, Constance Michel¹

¹From the Reference Center for Neuromuscular Diseases and ALS (E.F., E.D., S.A.), La Timone University Hospital, Center for Magnetic Resonance in Biology and Medicine (M.A.H., C.M., M.G., D.B.), UMR CNRS 7339, UMR 7286 (E.D.), Medicine Faculty, CNRS, LIS (M.A.H.,M.-E.B.), and Inserm (S.A.), GMGF, Aix-Marseille University, France.

|April 17, 2024

Summary

Quantitative MRI (qMRI) shows increasing intramuscular fat fraction (FF) in Charcot-Marie-Tooth type 1A (CMT1A) patients over time. This FF metric strongly correlates with disease severity, supporting its use in clinical trials.

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Area of Science:

Biomedical Imaging
Neurology
Quantitative MRI

Background:

Charcot-Marie-Tooth type 1A (CMT1A) is a progressive peripheral neuropathy.
Intramuscular fat fraction (FF) measured by quantitative MRI (qMRI) is a sensitive outcome measure for CMT1A.
Longitudinal tracking of qMRI biomarkers is crucial for clinical trial development in CMT1A.

Purpose of the Study:

To evaluate the relevance of multiple qMRI biomarkers for tracking longitudinal changes in CMT1A.
To assess correlations between qMRI metrics and clinical parameters in CMT1A patients.

Main Methods:

Quantitative MRI (qMRI) was performed on CMT1A patients at two time points, one year apart.
Metrics including proton density (PD), magnetization transfer ratio (MTR), and intramuscular fat fraction (FF) were extracted from 3D volumes of interest in the thigh and leg.
Disease severity was assessed using the Charcot Marie Tooth Neurologic Score (CMTNSv2), Overall Neuropathy Limitation Scale, and Medical Research Council (MRC) muscle strength.

Main Results:

Intramuscular fat fraction (FF) significantly increased in both thigh (+1.04%) and leg (+1.36%) 3D volumes over one year.
A length-dependent gradient of FF was observed, with higher values in the leg compared to the thigh.
Significant correlations were found between FF and clinical measures: CMTNSv2 (ρ = 0.656) and lower limb MRC strength (ρ = -0.877).

Conclusions:

Quantitative MRI (qMRI), particularly intramuscular fat fraction (FF), is a promising biomarker for monitoring longitudinal disease progression in CMT1A.
Three-dimensional volume analysis is more suitable than single-slice analysis due to varied FF distribution and muscle-specific changes.
The minimal annual changes observed necessitate careful data extraction methods for reliable clinical trial application.