Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease
Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY
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
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
View:
• Male and female individuals (≥18 years of age)
• Able to give informed consent
Locations
Other Locations
Denmark
Rigshospitalet
RECRUITING
Copenhagen
Contact Information
Primary
Caroline M Kistorp, Professor
caroline.michaela.kistorp@regionh.dk
35 45 96 42
Backup
Niels H Brandt-Jacobsen, MD, PhD
niels.hoeeg.brandt-jacobsen.01@regionh.dk
41 81 30 07
Time Frame
Start Date:2024-06-01
Estimated Completion Date:2026-06-01
Participants
Target number of participants:60
Treatments
Patients with Fabry Disease and impaired kidney function
Participants included in this group~* 18 years of age or above~* Fabry Disease as verified by genetic analysis prior to inclusion~* Impaired kidney function according to the KDIGO classification (UACR ≥ 30 mg/g and eGFR \< 60 ml/min/1.73m2 \[≥ CKD G3a/A2\])
Patients with Fabry Disease and normal kidney function
Participants included in this group~* 18 years of age or above~* Fabry Disease as verified by genetic analysis prior to inclusion~* Normal kidney function according to the KDIGO classification (UACR \< 30 mg/g and eGFR ≥ 60 will be included \[≤ CKD G2/A1\])
Healthy controls
Participants included in this group~* 18 years of age or above~* Normal kidney function according to the KDIGO classification (UACR \< 30 mg/g and eGFR ≥ 60 will be included \[≤ CKD G2/A1\])~Furthermore, healthy controls are excluded~* Suspected of Fabry Disease or verified by genetic analysis~* Related to a patient with Fabry Disease~* Have cancer with an expected influence on life expectancy~* Known apoplexia cerebri, heart failure or established kidney disease~* Recently initiated or have had recent changes in antihypertensive medication (within 3 months)