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

June 10, 2024 updated by: University Hospital, Angers

Evaluation of a Screening Strategy of Fabry Disease in Patient With Renal Biopsy: Histo-Fab Study

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

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Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
100

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

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Study Contact Backup

Study Locations

  • France
      • Angers, France
        • Recruiting
        • CHU Angers
        • Contact:
          • Jean-François Augusto

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Experimental: Renal disease
detection of Fabry disease
Diagnostic test: Detection of Fabry disease
Systematic detection of Fabry disease

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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
1 month

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
Estimate the prevalence of Fabry disease
Time Frame: 12 months
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University Hospital, Angers

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
February 3, 2020

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
June 2, 2025

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
August 2, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
March 7, 2019

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 8, 2019

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
March 11, 2019

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
June 11, 2024

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 10, 2024

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
June 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 49RC19_0032

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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