PDF(Pubmed)
Abstract：
Background/Objectives: Gaucher disease type 1 (GD1) is characterized by hepatosplenomegaly, thrombocytopenia, and disabling bone manifestations requiring regular MRI monitoring. The EIROS study assessed the real-world impact of velaglucerase alfa on GD1 bone disease, using MRI data collected in French clinical practice. Methods: MRIs collected retrospectively from treatment initiation and prospectively during follow-up (12-months) were analyzed centrally by a blinded expert radiologist to evaluate bone infiltration using the Bone Marrow Burden (BMB) score and a qualitative method (stable, improved or worsened for the spine and femur). Abdominal MRIs were also centrally analyzed to assess hepatosplenomegaly. Bone manifestations, hepatosplenomegaly, and hematologic parameters were analyzed from medical records. Results: MRI data were available for 20 patients: 6 treatment-naive patients and 14 patients who switched to velaglucerase alfa from another GD treatment. Interpretable MRIs for BMB scoring were available for seven patients for the spine and one patient for the femur. Qualitative assessments (n = 18) revealed stability in spine and femur infiltration in 100.0% and 84.6% of treatment-switched patients (n = 13), respectively, and improvements in 80.0% and 60.0% of treatment-naive patients (n = 5), respectively; no worsening of bone infiltration was observed. Liver, spleen, and hematologic parameters improved in treatment-naive patients and remained stable in treatment-switched patients. Conclusions: The qualitative real-world data support findings from clinical trials suggesting the long-term effectiveness of velaglucerase alfa on GD1 bone manifestations. When MRI assessment by radiologists with experience of GD is not possible, a simplified qualitative assessment may be sufficient in clinical practice for monitoring bone disease progression and treatment response.
摘要：
背景/目标：戈谢病1型（GD1）的特征是肝脾肿大，血小板减少症,和需要定期MRI监测的致残骨表现。EIROS研究评估了velaglucerasealfa对GD1骨病的实际影响，使用法国临床实践中收集的MRI数据。方法：从治疗开始和随访（12个月）期间回顾性收集的MRI，由失明的放射科专家进行集中分析，以使用骨髓负担（BMB）评分和定性方法（稳定，脊柱和股骨改善或恶化）。还对腹部MRI进行了集中分析以评估肝脾肿大。骨表现,肝脾肿大,从病历中分析血液学参数.结果：20例患者的MRI数据可用：6例未接受过治疗的患者和14例从另一种GD治疗转为velaglucerasealfa的患者。可解释的MRIBMB评分可用于7例脊柱患者和1例股骨患者。定性评估（n=18）显示100.0%和84.6%的患者（n=13）脊柱和股骨浸润的稳定性，分别,80.0%和60.0%的未接受治疗的患者(n=5)有所改善，分别；没有观察到骨浸润的恶化。肝脏,脾,脾首次接受治疗的患者的血液学参数有所改善，而转换治疗的患者的血液学参数保持稳定。结论：真实的定性数据支持临床试验的发现，表明velaglucerasealfa对GD1骨表现的长期有效性。当具有GD经验的放射科医师无法进行MRI评估时，在临床实践中,简化的定性评估可能足以监测骨骼疾病进展和治疗反应.
