The overall objective of this study is to investigate Fabry-associated renal organ involvement by using a novel magnetic resonance imaging (MRI) approach, focusing on changes in renal oxygen levels by blood oxygenation-level dependent (BOLD) imaging. Furthermore, to correlate renal oxygenation to the phenotypic presentation of patients with Fabry-associated nephropathy regarding circulating and imaging-derived biomarkers of kidney inflammation, fibrosis and injury as compared with healthy age- and sex-matched controls.
The study will achieve this by:
1\) Using a non-invasive, contrast-free MRI protocol focusing on parameters of oxygenation, inflammation, fibrosis, and injury in the kidney.
2\) Using an extensive, in-depth biomarker blood panel to investigate the pathological pathways associated with Fabry disease and Fabry-associated nephropathy.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
Accepted
Fabry patients:
Inclusion Criteria:
* Male and female individuals (≥18 years of age)
* Able to give informed consent
Exclusion Criteria:
* Any contraindication for magnetic resonance imaging according to standard checklist used in clinical routine, including claustrophobia or metallic foreign bodies, metallic implants, internal electrical devices, or permanent makeup/tattoos that cannot be declared MR compatible.
* Pregnancy
Control group Inclusion criteria
* Male and female individuals (≥18 years of age)
* Able to give informed consent Exclusion criteria
* A genetically-verified diagnosis of Fabry disease.
* Family member to a patient with a genetically-verified diagnosis of Fabry disease
* Cancer expected to influence life expectancy.
* Known heart failure, previous apoplexia or previously established kidney disease.
* Initiation or change of antihypertensive therapy within 3 months of enrolment
* Renal impairment as depicted by the CKD-EPI classification (≥ CKD G2/A1)
* Any contraindication for MRI according to standard checklist used in clinical routine, including claustrophobia or metallic foreign bodies, metallic implants, internal electrical devices, or permanent makeup/tattoos that cannot be declared MR compatible.
* Pregnancy
Primary outcome measure(s)
Renal hypoxia (Fabry patients according to renal impairment) — At baseline A between-group difference in renal hypoxia (R\*) evaluated by BOLD MRI when comparing the groups of patients with Fabry disease.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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