302PWhole-body fat-referenced MRI measures disease progression in patients with spinal and bulbar muscular atrophy

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-09-01 DOI:10.1016/j.nmd.2025.105550

M. Karlsson , P. Widholm , A. Ahlgren , P. Hatsis , C. Gentry , C. Grunseich , A. Gharib , A. Kokkinis , A. AlQahtani , P. Fratta , L. Zampedri , D. Jayaseelan , H. McKenzie , S. Wastling , M. Katsuno , S. Yamada , Y. Kishimoto , T. Kawase , T. Taoka , V. Vigiletta

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Abstract

More sensitive outcome measures in spinal bulbar muscular atrophy (SBMA) clinical trials are needed. Fat-referenced MRI has been successful in characterizing muscle atrophy and fat replacement in other neuromuscular diseases. We aimed to investigate the ability of fat-referenced MRI to assess changes in muscle composition and track disease progression in SBMA and the association to clinical outcomes. Whole-body Dixon MRI of 25 SBMA patients with mild-to-moderate disease severity were analyzed using AMRA Researcher, quantifying lean muscle volume (LMV), muscle fat fraction (MFF), and muscle fat infiltration (MFI) in 38 muscle groups. Muscles were classified as Normal Appearing, Intermediate, or End-Stage based on baseline fat content. Muscle measurements were combined into composites. Responsiveness was assessed using standardized response mean (SRM). Composites were correlated to SBMA functional rating scale (SBMAFRS), modified SBMAFRS (leg and trunk), and 2-minute-walk-test (2MWT) at baseline. The mean±SD age was 57.6±7.1 years, SBMAFRS 40.6±3.9, CAG Repeats 45.3±3.7, BMI 26.3±3.8 kg/m2. Patients had median (min,max) 5 (0,30) Normal Appearing, 26 (8,34) Intermediate, and 2 (0,13) End-Stage muscles. 12-month change in whole-body composite LMV/MFF/MFI was mean±SD (SRM) -4.38±2.48% (-1.76), 2.49±1.38 p.p. (1.81), and 0.79±0.51 p.p. (1.55) respectively (p<0.001). Change in thigh composite was -4.97±3.50% (-1.42), 2.81±1.65 p.p. (1.70), and 1.05±0.76 p.p. (1.38) (p<0.001). There were moderate correlations to SBMAFRS (r: 0.46/-0.41/-0.51), modified SBMAFRS (r: 0.50/-0.63/-0.67), and 2MWT (r: 0.73/-0.53/-0.55). Whole-body MRI captures muscle composition in SBMA patients and shows good responsiveness in describing 12-month natural progression. Baseline MRI assessments reflect disease severity as measured by SBMAFRS and 2MWT.

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302p全身脂肪参考MRI测量脊髓和球性肌萎缩患者的疾病进展

脊髓球性肌萎缩症（SBMA）临床试验需要更敏感的结果测量。脂肪相关MRI已成功表征肌肉萎缩和脂肪替代在其他神经肌肉疾病。我们的目的是研究脂肪相关MRI评估肌肉成分变化和跟踪SBMA疾病进展的能力及其与临床结果的关系。采用AMRA Researcher对25例轻中度SBMA患者的全身Dixon MRI进行分析，量化38个肌肉组的瘦肌体积（LMV）、肌肉脂肪分数（MFF）和肌肉脂肪浸润（MFI）。根据基线脂肪含量将肌肉分为正常状态、中间状态和终末状态。肌肉测量结果被组合成复合材料。采用标准化反应均值（SRM）评估反应性。复合材料与SBMA功能评定量表（SBMAFRS）、改进的SBMAFRS（腿部和躯干）以及基线2分钟步行测试（2MWT）相关。平均±SD年龄57.6±7.1岁，SBMAFRS 40.6±3.9岁，CAG Repeats 45.3±3.7岁，BMI 26.3±3.8 kg/m2。患者的中位肌群（最小，最大）为正常肌群5(0,30)，中期肌群26(8,34)，终末期肌群2（0,13）。全身复合LMV/MFF/MFI 12个月变化均值±SD （SRM）分别为-4.38±2.48%（-1.76）、2.49±1.38 p.p（1.81）和0.79±0.51 p.p (1.55) （p<0.001）。大腿综合指数的变化分别为-4.97±3.50%（-1.42）、2.81±1.65 p.p（1.70）和1.05±0.76 p.p (1.38) （p<0.001）。与SBMAFRS （r: 0.46/-0.41/-0.51）、改良SBMAFRS （r: 0.50/-0.63/-0.67）和2MWT （r: 0.73/-0.53/-0.55）存在中度相关性。全身MRI捕获SBMA患者的肌肉组成，并在描述12个月的自然进展方面表现出良好的反应性。基线MRI评估反映了SBMAFRS和2MWT测量的疾病严重程度。

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.