146P Investigation of bone health in a large cohort of naïve SMA patients

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-10-01 DOI:10.1016/j.nmd.2024.07.053

C. Panicucci , N. Brolatti , S. Casalini , G. Coratti , M. Pedemonte , F. Ricci , T. Mongini , V. Sansone , M. Filosto , L. Bello , E. Pegoraro , I. Bruno , L. Verriello , G. Ricci , A. D'Amico , E. Mercuri , M. Maghnie , N. Di Iorgi , C. Bruno , working group ITASMAC

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引用次数: 0

Abstract

SMA patients have a high risk of osteoporosis although limited data are available, and bone fragility management is not fully integrated in the standard of care. This multicenter, retrospective, cross-sectional study aims to evaluate fracture prevalence and bone mineral density (BMD Z-score) in naïve SMA patients included in the ITASMAC registry data, by using hospital charts and dual-energy X-ray absorptiometry (DXA) measurements. Data were available in 148 SMA patients from 11 National referral center for SMA (6.1% SMA1, 42.6% SMA2, and 51.3% SMA3). Overall, 46/148 (31.1%) patients presented at least 1 fragility fracture, 2/9 SMA1 (22.2%), 20/63 SMA2 (32.3%), and 24/76 SMA3 (31.6%), at a mean age of 12 years for SMA1 and SMA2, and 31 for SMA3. Long bone fractures were the most prevalent (93%), and only 4/46 (9%) of fractured patients were treated with bisphosphonates. DXA scans before the first fracture were available in 82 patients, performed at median age of 5 years for SMA1 (n= 3), 15 for SMA2 (n=37), and 27 for SMA3 (n=42). Pathologic BMD Z-scores were observed in 3/3 (100%) SMA1, 35/37 (95%) SMA2, and 21/42 (50%) SMA3. The lowest median BMD Z-scores were registered at femur (-2.9), followed by total body (-2.5) and lumbar spine (-2.2). In conclusion, we detected an overall fractures prevalence of 30%, without significant differences between SMA types. BMD Z-scores were significantly lower in SMA1 and SMA2 compared to SMA3. This baseline analysis of bone health in naïve SMA patients, provides a starting point for longitudinal studies to determine SMA treatment effects on bone in this condition.

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146P 对一大批天真无邪的 SMA 患者骨骼健康的调查

SMA 患者罹患骨质疏松症的风险很高，但相关数据有限，而且骨脆性管理尚未完全纳入标准护理中。这项多中心、回顾性、横断面研究旨在通过使用医院病历和双能 X 射线吸收测量法（DXA）测量数据，评估 ITASMAC 登记数据中未接受治疗的 SMA 患者的骨折发生率和骨矿物质密度（BMD Z-score）。来自 11 个国家 SMA 转诊中心的 148 名 SMA 患者（6.1% SMA1、42.6% SMA2 和 51.3% SMA3）的数据可用。总体而言，46/148（31.1%）名患者至少出现过一次脆性骨折，其中 SMA1 患者为 2/9（22.2%），SMA2 患者为 20/63（32.3%），SMA3 患者为 24/76（31.6%），SMA1 和 SMA2 患者的平均年龄为 12 岁，SMA3 患者的平均年龄为 31 岁。长骨骨折最为常见（93%），只有 4/46 （9%）名骨折患者接受了双磷酸盐治疗。82 名患者在首次骨折前接受了 DXA 扫描，SMA1 患者的中位年龄为 5 岁（3 人），SMA2 患者为 15 岁（37 人），SMA3 患者为 27 岁（42 人）。3/3（100%）例 SMA1、35/37（95%）例 SMA2 和 21/42 （50%）例 SMA3 观察到病理性 BMD Z-scores。股骨（-2.9）的 BMD Z 值中位数最低，其次是全身（-2.5）和腰椎（-2.2）。总之，我们发现骨折的总体发生率为 30%，不同 SMA 类型之间没有明显差异。与 SMA3 相比，SMA1 和 SMA2 的 BMD Z 值明显较低。这项对新SMA患者骨骼健康状况的基线分析为纵向研究提供了一个起点，以确定SMA治疗对骨骼的影响。

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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.