ChiCTR2100053107尚未招募Unknown
Natural History in Fabry Disease with IVS4+919G>A Mutations: A Longitudinal Study
适应症
干预措施
试验速览
- 阶段
- Unknown
- 状态
- 尚未招募
- 试验地点
- 1
- 主要终点
- 1. To evaluate disease progression in cardiac structural and functional remodeling in Fabry disease (FD) (treated and untreated) using advanced imaging techniques of CMR (including native T1 and late gadolinium enhancement) and echocardiography (including 3D echo and strain imaging).
研究概览
简要总结
Primary Objectives
- To evaluate disease progression in cardiac structural and functional remodeling in Fabry disease (FD) (treated and untreated) using advanced imaging techniques of CMR (including native T1 and late gadolinium enhancement) and echocardiography (including 3D echo and strain imaging).
- To evaluate the relationship among left ventricular hypertrophy, inflammation, fibrosis, myocardial deformation, and cardiac function.
Secondary Objectives
- To assess the family penetrance of later onset FD and its cardiac manifestation.
- To evaluate disease progression in other organs/systems (renal, neurological, dermatological).
研究设计
- 研究类型
- Observational
入排标准
- 性别
- All
入选标准
- •ERT-naive group:
- •Aged >=18-year-old;
- •East Asian ethnicities;
- •Not on ERT;
- •Capable of giving signed informed consent
- •IVS4+919G>A GLA mutation AND at least ONE of the followings*:
- •An increase of plasma LysoGb3 level;
- •Demonstration of characteristic storage in the affected organ (e.g. heart, kidney).
- •Based on the Diagnostic criteria for a definite diagnosis of FD recommended by the European Fabry Working Group (25)
- •ERT comparator group:
- •Aged >=18-year-old;
- •Capable of giving signed informed consent;
- •East Asian ethnicities;
- •On ERT or planned to start ERT;
- •IVS4+919G>A mutation;
- •Therapies participants will be receiving is agalsidase-beta, based on the clinical decision of physicians.
排除标准
- •Known infiltrative cardiomyopathy including amyloidosis;
- •Known genetic (e.g. sarcomeric, metabolic mutations) hypertrophic cardiomyopathy;
- •Pregnancy or suspected pregnancy.
- •Patients with contraindications to CMR and/or gadolinium contrast will be eligible for the study, but will not undergo CMR.
研究组 & 干预措施
main group of FD patients
干预措施: main group of FD patients
结局指标
主要结局
1. To evaluate disease progression in cardiac structural and functional remodeling in Fabry disease (FD) (treated and untreated) using advanced imaging techniques of CMR (including native T1 and late gadolinium enhancement) and echocardiography (including 3D echo and strain imaging).
次要结局
未报告次要终点
研究者
研究点 (1)
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