Clinical Trials Logo

Clinical Trial Summary

Fabry disease is genetic X linked disease, with annual incidence of 1 in 100,000 that is certainly underestimate the true prevalence of the disease. Renal biopsy in some patients does not allow determining the etiology of nephropathy. It is why investigators would like to evaluate the screening of Fabry patients from renal biopsy in patient with idiopathic nephropathy. Investigator hypothesize to detect one or more cases of patients with Fabry disease in local idiopathic nephropathy population with renal biopsy. That would allow reviewing and optimizing the target screening for Fabry Disease. The purpose would be to detect Fabry disease systematically in patients presenting a nephropathy of undetermined etiology in spite of the renal biopsy or presenting nonspecific histological characteristics. In Fabry disease with renal impairment, proteinuria is the first sign, usually occurring in the second decade. The evolution is progressively towards end-stage renal failure during the fourth decade. The presence of renal impairment is globally associated with a poor prognosis. Renal histology can be used to diagnose Fabry disease by revealing sphingolipid deposits identified by optical microscopy in the form of vacuoles in podocytes, distal tubule epithelial cells or in the media of the distal tubules. vascular walls. Resin inclusion with Toluidine blue staining is the staining of choice for visualizing lipid inclusions. However, this staining is not used as a first intention in routine. On the paraffin-fixed tissues, the vacuoles are less visible because they dissolve. Thus, the renal histological analysis sometimes reveals only non-specific damage to the various structures of the kidney and may not allow identification of very evocative inclusions. Under the effect of oxidative stress induced by sphingolipid deposits, lesions of tubulo-interstitial fibrosis settle quite early. At the level of the glomerulus, glycosphingolipids lead to the production of angiotensin II and TGF-β leading to an excess production of constituents of the glomerular basement membrane inducing its thickening and glomerulosclerosis. Arteries of all sizes are also the seat of intimal thickening and media accelerating the process of intrarenal ischemia. These lesions, which may appear isolated or synchronous, and nonspecific, are sometimes in the foreground and do not point in the first line to the etiological diagnosis of Fabry disease. Also, among the patients presenting a nephropathy of undetermined etiology in spite of the renal biopsy or presenting nonspecific histological characteristics, investigator propose to systematically detect the Fabry disease. Screening will be done in a selected population of renal biopsy patients using the dried blood spot kits.


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms


NCT number NCT03869554
Study type Interventional
Source University Hospital, Angers
Contact Jean-François AUGUSTO
Phone 02 41 35 82 02
Email jfaugusto@chu-angers.fr
Status Recruiting
Phase N/A
Start date February 3, 2020
Completion date August 2, 2025

See also
  Status Clinical Trial Phase
Active, not recruiting NCT03672110 - Slow and Low Start of a Tacrolimus Once Daily Immunosuppressive Regimen Phase 3
Completed NCT01545531 - Two-Point Measurement of Glomerular Filtration Rate by Iohexol Plasma Disappearance N/A
Recruiting NCT05700903 - Contributions to Hypertension With Androgen Deprivation Therapy Phase 4
Completed NCT03717883 - ADPKD Alterations in Hepatic Transporter Function
Withdrawn NCT04556721 - A Pharmacokinetic Study of Sugammadex in Dialysis Patients Phase 1
Active, not recruiting NCT04078750 - PLATO - Medication Adherence in Transplant Recipients N/A
Not yet recruiting NCT04531124 - Cardiovascular and Renal Outcomes of Integrated Management of Blood Pressure and Other Cardiometabolic Risks in Hypertensives
Completed NCT03107195 - Biokinetics Study of Tc-99m DMSA in Pediatric Molecular Imaging
Completed NCT03463148 - Validation of a Sensor for Non-Invasive Measurements
Recruiting NCT03578523 - Renal MR Feasibility in Renal Disease
Withdrawn NCT01468259 - A Multi-Center, Open-Label Study Phase 1
Completed NCT01256983 - Light for Renal Transplant Recipients Having a Sleep-Wake Dysregulation Phase 0
Completed NCT06070337 - H-Guard Pilot Safety Evaluation in Haemodialysis Patients N/A
Completed NCT05593211 - Assess Safety and Performance of the Kronos Electrocautery Device for Electrocautery Procedures Following Coaxial Biopsy Procedures N/A
Completed NCT03242343 - VasQ External Support for Arteriovenous Fistula N/A
Completed NCT03438123 - Data Collection Study for the Spectrum Dynamics Multi-purpose CZT SPECT Camera N/A
Completed NCT01334333 - Comparison of Medication Adherence Between Once and Twice Daily Tacrolimus in Stable Renal Transplant Recipients Phase 4
Recruiting NCT05443321 - Advancing Health Information Exchange (HIE) During Inter-hospital Transfer (IHT) to Improve Patient Outcomes N/A
Completed NCT04407182 - Safety and Efficacy of Viusid and Asbrip in Hospitalized Patients Infected by SARS-Cov-2 With COVID-19 Phase 2
Not yet recruiting NCT06419270 - Cardiovascular, Renal, and Skeletal Complications in Patients With Post-Surgical Hypoparathyroidism