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.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
70
T1 mapping values to test the ability of the MRI sequence to detect Gb3 in kidney
Hopital Edouard Herriot
Lyon, France, France
RECRUITINGHopital Femme Mère Enfant
Bron, France
NOT_YET_RECRUITINGT1 value measured
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
Time frame: Day 1
Apparent diffusion coefficient (ADC) coefficient values
ADC coefficient values to measure the degree of fibrosis in Fabry nephropathy in Fabry disease patients compared with controls.
Time frame: Day 1
R2* coefficient values
R2\* values to measure the degree of renal alteration in Fabry nephropathy in Fabry disease patients compared with controls.
Time frame: Day 1
T2 value measured
Comparison of T2 values measured by T2 mapping MRI between patients with Fabry disease and controls. T2 mapping is a MRI sequence to estimate renal alteration
Time frame: Day 1
T1 mapping measurement Fabry disease
Comparison of T1 mapping values within 3 different subgroups of patients with Fabry disease (treated men, treated or untreated women)
Time frame: Day 1
In Fabry disease patients, evaluation of the association between the T1 values measured and concentration of plasma globotriaosylsphingosine (LysoGb3)
Time frame: Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and ADC value measured
ADC value measured by diffusion-weighted MRI
Time frame: Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and R2* value measured
R2\* value measured by blood oxygen level-dependent (BOLD) MRI
Time frame: Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and T2 value measured
T2 value measured by T2 mapping MRI
Time frame: Day 1
In Fabry disease patients, evaluation of the association between proteinuria and ADC value measured
ADC value measured by diffusion-weighted MRI
Time frame: Day 1
In Fabry disease patients, evaluation of the association between proteinuria and R2* value measured
R2\* value measured by BOLD MRI
Time frame: Day 1
In Fabry disease patients, evaluation of the association between proteinuria and T2 value measured
T2 value measured by T2 mapping MRI
Time frame: Day 1
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