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Evaluation of a Screening Strategy of Fabry Disease in Patient With Renal Biopsy (HISTOFAB)

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ClinicalTrials.gov Identifier: NCT03869554
Recruitment Status : Unknown
Verified March 2019 by University Hospital, Angers.
Recruitment status was:  Not yet recruiting
First Posted : March 11, 2019
Last Update Posted : March 11, 2019
Information provided by (Responsible Party):
University Hospital, Angers

Brief 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.

Condition or disease Intervention/treatment Phase
Renal Disease Diagnostic Test: Detection of Fabry disease Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Evaluation of a Screening Strategy of Fabry Disease in Patient With Renal Biopsy: Histo-Fab Study
Estimated Study Start Date : July 1, 2019
Estimated Primary Completion Date : July 1, 2020
Estimated Study Completion Date : August 1, 2020

Resource links provided by the National Library of Medicine

Arm Intervention/treatment
Experimental: Renal disease
detection of Fabry disease
Diagnostic Test: Detection of Fabry disease
Systematic detection of Fabry disease

Primary Outcome Measures :
  1. Assess the value of screening for Fabry's disease in patients with kidney disease whose etiology remains undetermined after renal biopsy [ Time Frame: 1 month ]
    number of patients diagnosed with Fabry's disease identified

Secondary Outcome Measures :
  1. Estimate the prevalence of Fabry disease [ Time Frame: 12 months ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Adult patient (> 18 years old)
  • Obtaining consent to participate in the study
  • Patients whose clinical presentation meets at least one of the following criteria:

    • Undetermined nephropathy despite renal biopsy,
    • Nephroangiosclerosis as the predominant lesion
    • Chronic tubulointerstitial nephropathy,
    • Glomerulosclerosis,
    • Segmental and focal hyalinosis.
    • Optically normal kidney or seat of minimal lesions

Exclusion Criteria:

  • Patient who has already been screened for Fabry Disease
  • At least one of the following criteria:

    • Nephrotic syndrome and/or Glomerular nephropathy
    • Histological diagnosis of certain nephropathies (specific kidney lesions)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03869554

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Contact: Jean-François AUGUSTO 02 41 35 82 02 ext +33 jfaugusto@chu-angers.fr
Contact: Béatrice GABLE 0241356825 ext +33 begable@chu-angers.fr

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CHU Angers
Angers, France
Contact: Jean-François Augusto         
Sponsors and Collaborators
University Hospital, Angers
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Responsible Party: University Hospital, Angers
ClinicalTrials.gov Identifier: NCT03869554    
Other Study ID Numbers: 49RC19_0032
First Posted: March 11, 2019    Key Record Dates
Last Update Posted: March 11, 2019
Last Verified: March 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders