T1 Mapping in Diagnosis and Follow up of Fabry Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 70
- 试验地点
- 1
- 主要终点
- T1 value measured
研究概览
简要总结
Fabry disease (OMIM-301500, FD) is a lysosomal storage disease with X-linked inheritance secondary to mutations in the α-galactosidase A gene (GLA), which cause absence or decreased activity of the lysosomal hydrolase a-galactosidase A (a-gal A). The accumulation of globotriaosylceramide (Gb3) leads to multiple organs dysfunction, especially in three key organs: kidney, heart and cerebrovascular system. Progressive nephropathy is one of the main features of Fabry disease and is marked by an insidious development. The investigators are facing different current challenges about treatment initiation in non-classic phenotype patients, optimal dose after treatment initiation, and treatments monitoring in Fabry nephropathy. That is even more important that the enzyme replacement therapy is expensive and a lifelong commitment.
Functional magnetic resonance imaging (MRI) is now able to provide T1 mapping sequence. In Fabry disease, T1 mapping is currently used to assess the degree of myocardial involvement. The MRI for assessement of Fabry Cardiomyopathy is now recommended by the 2022 national diagnostic and care protocol (PNDS) in France. However there is no data about T1 mapping values in kidney in Fabry's disease The main Objective is to describe renal performance through multi-parametric MRI in Fabry nephropathy and the primary outcome will be the quantification of renal T1 in Fabry patients.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient with confirmed Fabry disease Or Control patients: Patients undergoing renal functional exploration for a reason other than Fabry disease, amyloidosis, hemochromatosis
- •Adult patient
- •Patient informed of the study and agree to participate
- •Patient affiliated to a social security or beneficiaries of a similar scheme
排除标准
- •Weight > 130 kg
- •kidney transplant,
- •polycystic kidney disease,
- •Pregnant, parturient or breastfeeding
- •Contraindications to MRI
- •Subject participating in another research including an exclusion period still in progress at inclusion
- •Persons deprived of their liberty by a judicial or administrative decision,
- •Adults subject to a legal protection measure (safeguard measure, guardianship, curators)
研究组 & 干预措施
Fabry disease
干预措施: T1 mapping measurement (Diagnostic Test)
Patients undergoing renal functional exploration
Patients undergoing renal functional exploration for a reason other than Fabry disease, amyloidosis, hemochromatosis
干预措施: T1 mapping measurement (Diagnostic Test)
结局指标
主要结局
T1 value measured
时间窗: Day 1
Difference in the measurement of T1 mapping by MRI in Fabry disease patients compared with controls. T1 mapping is a MRI sequence to estimate renal fibrosis
次要结局
- In Fabry disease patients, evaluation of the association between proteinuria and R2* value measured(Day 1)
- Apparent diffusion coefficient (ADC) coefficient values(Day 1)
- In Fabry disease patients, evaluation of the association between the T1 values measured and concentration of plasma globotriaosylsphingosine (LysoGb3)(Day 1)
- In Fabry disease patients, evaluation of the association between glomerular filtration rate and T2 value measured(Day 1)
- In Fabry disease patients, evaluation of the association between proteinuria and T2 value measured(Day 1)
- R2* coefficient values(Day 1)
- In Fabry disease patients, evaluation of the association between proteinuria and ADC value measured(Day 1)
- T2 value measured(Day 1)
- T1 mapping measurement Fabry disease(Day 1)
- In Fabry disease patients, evaluation of the association between glomerular filtration rate and ADC value measured(Day 1)
- In Fabry disease patients, evaluation of the association between glomerular filtration rate and R2* value measured(Day 1)