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Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI
Louise Iterbeke1, Lotte Huysmans2,3, Kobe Bamps4,5
1Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven Brain Institute (LBI) and Leuven Institute for Rare Diseases (L.IRD), Belgium.
Quantitative MRI measures like proton density fat fraction (PDFF) can detect Charcot-Marie-Tooth neuropathy type 1A (CMT1A) progression in the distal leg within 12 months. These imaging biomarkers, along with the Motor Function Measure (MFM32) and Individualized Neuromuscular Quality of Life (INQoL), offer sensitive endpoints for clinical trials.
Area of Science:
- Biomedical Imaging
- Neurology
- Clinical Trials
Background:
- Charcot-Marie-Tooth neuropathy type 1A (CMT1A) is a progressive demyelinating neuropathy characterized by distal muscle weakness and atrophy.
- Objective and sensitive outcome measures are crucial for evaluating therapeutic interventions in CMT1A clinical trials.
Purpose of the Study:
- To identify responsive imaging and clinical biomarkers for tracking CMT1A progression over a 24-month period.
- To establish sensitive endpoints for future clinical trials in adult CMT1A patients.
Main Methods:
- A prospective, monocentric natural history study involving ambulatory adults with CMT1A and healthy controls.
- Quantitative muscle MRI was used to measure proton density fat fraction (PDFF) and water T2 (T2H2O) in leg muscles.
- A comprehensive suite of clinical assessments, including the CMTNSv2, MFM32, 6MWD, and patient-reported outcomes like INQoL, were administered.
Main Results:
- Elevated baseline PDFF in CMT1A patients' leg muscles, with significant increases in distal leg PDFF at 12 and 24 months.
- Distal leg T2H2O also increased over 24 months, indicating disease activity.
- The MFM32 score declined, and INQoL scores worsened significantly within 12 months, while the 9HPT and CMTNSv2 showed deterioration at 24 months.
Conclusions:
- Distal leg PDFF, assessed via 3D whole-muscle segmentation MRI, effectively detects CMT1A progression within 12 months.
- The combination of PDFF, MFM32, and INQoL provides sensitive 12-month endpoints for clinical trials in CMT1A.
- These findings support the use of advanced imaging and functional measures in evaluating new CMT1A treatments.
