Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative…

Cohort studyNeurology· Aug 2026

Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.

Louise Iterbeke, Lotte Huysmans, Kobe Bamps … Kristl G Claeys

NeuromuscularCohort studyClinical practiceQ1IF 3.8

Distal leg muscle fat fraction increases within 12 months in Charcot-Marie-Tooth neuropathy type 1A

Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.

Louise Iterbeke … Kristl G Claeys

Neurology · Aug 2026 · Q1 in Neurology

Background

Charcot-Marie-Tooth neuropathy type 1A (CMT1A) is a slowly progressive demyelinating neuropathy with distal muscle weakness and atrophy.

Purpose

We aimed to identify responsive imaging and clinical biomarkers in CMT1A over 24 months.

Methods

In this prospective, monocentric natural history study, ambulatory adults with genetically confirmed CMT1A and healthy controls were enrolled for 3 visits (baseline, 12, and 24 months).

n = 33 controls

Results

distal leg muscle fat content rises within a year, signaling disease progression

MD 1.10 (95% CI 0.70 to 1.40)

CI excludes the null - significant

More results

At baseline, PDFF (%) was elevated in CMT1A across all leg muscles ( p < 0.001).

Proximal leg PDFF (%) and T2 H2O remained largely stable.

The MFM32 total score declined at 12 months (-3.4%, 95% CI -4.1 to -2.6, p < 0.001) and 24 months (-5.8%, 95% CI -6.9 to -4.7, p < 0.001).

More results

Individualized Neuromuscular Quality of Life scores worsened at 12 months (+15.1, 95% CI 10.0-20.2, p < 0.001) and 24 months (+23.6, 95% CI 18.8-28.7, p < 0.001).

“

Conclusion

Combined with the MFM32 and Individualized Neuromuscular Quality of Life, these measures enable sensitive 12-month endpoints for future clinical trials in adults with CMT1A.

Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.

Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.

Related papers