Vincenten Sanne C C, Teeselink Sjan, Mul Karlien, Heskamp Linda, Kan Hermien E, Heerschap Arend, Cameron Donnie, Tasca Giorgio, Leung Doris G, Voermans Nicol C, van Engelen Baziel G M, van Alfen Nens
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Neuromuscul Disord. 2025 Feb;47:105274. doi: 10.1016/j.nmd.2025.105274. Epub 2025 Jan 9.
Clinical trial readiness is an important topic in the field of facioscapulohumeral muscular dystrophy (FSHD). As FSHD is a slowly progressive and clinically heterogeneous disease, imaging biomarkers have been proposed to complement clinical outcome measures. Muscle magnetic resonance imaging (MRI), ultrasound and dual energy X-ray absorptiometry (DEXA) have been used to measure disease severity, activity and progression. We conducted a scoping review of the literature on these imaging modalities to assess gaps in knowledge and subsequently collaborated with a panel of neuromuscular imaging experts to generate recommendations on the road ahead. We systematically searched PubMed, EMBASE and Cochrane Library databases. Three-hundred and twenty-eight studies were screened and one hundred and five studies were included. MRI indices related to intramuscular fat content, STIR positivity and T2 are used as diagnostic as well as prognostic and monitoring biomarkers. Ultrasound echogenicity can be used as a diagnostic and potentially as a prognostic and monitoring biomarker. DEXA lean muscle mass may be used as an additional monitoring biomarker. Each imaging modality has its own benefits but also challenges. Based on our expert opinions, we propose a roadmap to address these challenges, ensuring the optimal use of each modality in multi-center clinical trials in FSHD.
临床试验准备就绪是面肩肱型肌营养不良症（FSHD）领域的一个重要话题。由于FSHD是一种进展缓慢且临床异质性的疾病，因此有人提出使用影像生物标志物来补充临床结局指标。肌肉磁共振成像（MRI）、超声和双能X线吸收法（DEXA）已被用于测量疾病的严重程度、活动情况和进展。我们对有关这些成像方式的文献进行了范围综述，以评估知识空白，随后与一组神经肌肉成像专家合作，就未来的发展方向提出建议。我们系统地检索了PubMed、EMBASE和Cochrane图书馆数据库。共筛选出328项研究，纳入105项研究。与肌内脂肪含量、短T1反转恢复序列（STIR）阳性和T2相关的MRI指标被用作诊断、预后和监测生物标志物。超声回声可作为诊断生物标志物，也可能用作预后和监测生物标志物。DEXA瘦肌肉量可作为额外的监测生物标志物。每种成像方式都有其自身的优点，但也存在挑战。基于我们的专家意见，我们提出了一个路线图来应对这些挑战，以确保在FSHD的多中心临床试验中优化使用每种成像方式。
