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Study of the Prevalence of Fabry Disease in French Dialysis Patients (FABRYDIAL)

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ClinicalTrials.gov Identifier: NCT02843334
Recruitment Status : Unknown
Verified July 2016 by Hospices Civils de Lyon.
Recruitment status was:  Recruiting
First Posted : July 25, 2016
Last Update Posted : July 25, 2016
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

Brief Summary:

Fabry Disease (FD) is a rare genetic lysosomal storage disease including an X-linked mutation and characterized by an alpha-galactosidase A (GLA) deficiency. It causes globotriaosylceramide (GB3) accumulation within blood vessels, tissues and organs. This accumulation leads to multisystemic deficiency, such as progressive kidney insufficiency. Due to its low prevalence and non-specific symptoms, FD is under-diagnosed. Its estimated incidence is ranged from 1/40,000 to 1/120,000 live births. A review of the international literature suggests a higher prevalence among dialysis patients. Its diagnosis could lead to an enzyme replacement therapy, in order to avoid the occurrence or aggravation of other organs irreversible lesions, and to enhance the familial screening.

We aim to conduct a multicentric cross-sectional prevalence study in 5 areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard), involving biologic collection and genetic diagnosis test. Our objective is to measure the prevalence of FD among dialysis patients. Eligible patients will be included after signing the informed consent.

In the five participating areas, all of the dialysis centers will be asked for involvement. Nominative data of the French renal epidemiology and information network (REIN) registry will enable first patients screening for eligibility among prevalent dialysis patients. If needed (insufficient or absent data in the REIN registry), data will be completed with medical files.

A blood drop will be collected during a hemodialysis session (or the monthly test for peritoneal dialysis treated patients) and deposited on an anonymized blotting paper. For the diagnosis of FD, men will have a measure of the alpha-galactosidase activity, whereas screening in women will be established on the association of alpha-galactosidase activity and lyso-GB3 analysis. If results are compatible with FD, genetic mutation will be search in order to confirm the diagnosis for women, and, for all, to offer familial testing. Results will be transmitted to the nephrologist within the next 2 to 9 weeks. Patients diagnosed with FD will be managed in accordance with the guidelines of the French National Authority for Health (F.N.A.H.).


Condition or disease Intervention/treatment
Fabry Disease End Stage Renal Disease Renal Dialysis Biological: Dried blood spot (DBS) sampling

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Study Type : Observational
Estimated Enrollment : 6000 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Study of the Prevalence of Fabry Disease in French Dialysis Patients
Study Start Date : May 2016
Estimated Primary Completion Date : May 2017
Estimated Study Completion Date : May 2017

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Dialysis

Group/Cohort Intervention/treatment
Population of adult patients undergoing chronic renal dialysis
Population of adult patients undergoing chronic renal dialysis for end stage kidney disease in 5 French areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard)
Biological: Dried blood spot (DBS) sampling
DBS be collected during a hemodialysis session and deposited on an anonymized blotting paper. Laboratory ARCHIMED Life Science GmbH, based in Austria will perform all the biological analysis. For the diagnosis, men will have a measure of the alpha-galactosidase activity level, whereas screening in women will be established on the association of alpha-galactosidase activity and lyso-GB3 analyses. If results are compatible, genetic mutation will be searches in order to confirm the diagnosis for women.




Primary Outcome Measures :
  1. Prevalence of Fabry disease [ Time Frame: during a hemodialysis session (Day 1) ]

    Analysis for the diagnostic of FD will be performed on blood drops:

    • For men : alpha galactosidase A enzyme activity (positive test if < 1,2µmol/L/h)
    • For women : alpha galactosidase A enzyme activity (positive test if < 1,2µmol/L/h) and lyso-GB3 (positive test if > 6 ng/mL) analysis. If results are compatible, GLA mutation will be confirmed by genotyping.


Biospecimen Retention:   Samples With DNA
blood drops will be collected during a hemodialysis session and deposited on an anonymized blotting paper. Mutational analysis with sequencing of the whole GLA gene will be done to confirm the diagnosis of Fabry disease


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Population of adult patients undergoing chronic renal dialysis for end stage kidney disease in 5 French areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard)
Criteria

Inclusion Criteria:

  • Woman or men
  • Age between 18 to 70 years
  • Patient undergoing chronic renal dialysis with a confirmed diagnosis of FD or a diagnosis of nephropathy according to the French renal epidemiology and information network (REIN) registry classification :
  • Primitive glomerulonephritis
  • Hypertension
  • Diabetic nephropathy with non type 1 diabetes
  • Vascular nephropathy
  • Pyelonephritis
  • Unknown or other
  • Informed consent signed

Exclusion Criteria:

  • IgA nephropathy confirmed by renal biopsy
  • Diabetic nephropathy with type 1 diabetes
  • Autosomal dominant polycystic kidney disease
  • Law-protected patient
  • Patient who doesn't belong to the national social security system, or similar system
  • Pregnant or lactating woman

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): NCT02843334


Contacts
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Contact: Laurent JUILLARD, Pr (0)472 110 159 ext +33 Laurent.juillard@univ-lyon1.fr
Contact: Florence SENS, MD (0)472 115 769 ext +33 Florence.sens@chu-lyon.fr

Locations
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France
Hôpital Pellegrin Tripode, Service de néphrologie-Dialyse, place Amélie Rabat Léon Recruiting
Bordeaux, Aquitaine, France, 33000
Contact: Valérie De PRECIGOUT, MD    (0)556 795 831 ext +33    valerie.deprecigout@chu-bordeaux.fr   
Hôpital Universitaire Carémeau, Service de Néphrologie, Place du Pr R. Debré Recruiting
Nîmes, Gard, France, 30029
Contact: Olivier MORANNE, Pr    (0)466 683 256 ext +33    olivier.moranne@chu-nimes.fr   
Hôpital Necker, APHP Paris, Service de néphrologie-dialyse, 149 rue de Sèvres Recruiting
Paris, Ile de France, France, 75015
Contact: Bertrand KNEBELMANN, Pr    (0)144 495 241 ext +33    bertrand.knebelmann@nck.aphp.fr   
CHU d'Amiens, Site Sud, Service de néphrologie, D408 Recruiting
Amiens, Nord Picardie, France, 80054
Contact: Gabriel CHOUKROUN, Pr    (0)322 455 860 ext +33    choukroun.gabriel@chu-amiens.fr   
Hospices Civils de Lyon, Hôpital E Herriot, Service de néphrologie, 5 place d'Arsonval Recruiting
Lyon, Rhones Alpes, France, 69437
Contact: Laurent JUILLARD, Pr    (0)472 110 159 ext +33    Laurent.juillard@univ-lyon1.fr   
Contact: Laure GUITTARD    (0)472 112 801 ext +33    Laure.guittard@chu-lyon.fr   
Sponsors and Collaborators
Hospices Civils de Lyon
Investigators
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Principal Investigator: Laurent JUILLARD, Pr Hospices Civils de Lyon
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Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT02843334    
Other Study ID Numbers: 69HCL16_0271
First Posted: July 25, 2016    Key Record Dates
Last Update Posted: July 25, 2016
Last Verified: July 2016
Keywords provided by Hospices Civils de Lyon:
Fabry disease
End Stage Renal Disease
chronic dialysis
alpha galactosidase A
Lyso-GB3
GLA mutation
Prevalence
Additional relevant MeSH terms:
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Fabry Disease
Kidney Diseases
Kidney Failure, Chronic
Urologic Diseases
Renal Insufficiency, Chronic
Renal Insufficiency
Sphingolipidoses
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
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders