FABRYDIAL: Study of the Prevalence of Fabry Disease in French Dialysis Patients
Study Details
Study Description
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 | Phase |
|---|---|---|
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Study Design
Arms and Interventions
| Arm | 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.
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Outcome Measures
Primary Outcome Measures
- Prevalence of Fabry disease [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.
Eligibility Criteria
Criteria
Inclusion Criteria:
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Woman or men
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Age between 18 to 70 years
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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 :
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Primitive glomerulonephritis
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Hypertension
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Diabetic nephropathy with non type 1 diabetes
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Vascular nephropathy
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Pyelonephritis
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Unknown or other
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Informed consent signed
Exclusion Criteria:
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IgA nephropathy confirmed by renal biopsy
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Diabetic nephropathy with type 1 diabetes
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Autosomal dominant polycystic kidney disease
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Law-protected patient
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Patient who doesn't belong to the national social security system, or similar system
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Pregnant or lactating woman
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Hôpital Pellegrin Tripode, Service de néphrologie-Dialyse, place Amélie Rabat Léon | Bordeaux | Aquitaine | France | 33000 |
| 2 | Hôpital Universitaire Carémeau, Service de Néphrologie, Place du Pr R. Debré | Nîmes | Gard | France | 30029 |
| 3 | Hôpital Necker, APHP Paris, Service de néphrologie-dialyse, 149 rue de Sèvres | Paris | Ile de France | France | 75015 |
| 4 | CHU d'Amiens, Site Sud, Service de néphrologie, D408 | Amiens | Nord Picardie | France | 80054 |
| 5 | Hospices Civils de Lyon, Hôpital E Herriot, Service de néphrologie, 5 place d'Arsonval | Lyon | Rhones Alpes | France | 69437 |
Sponsors and Collaborators
- Hospices Civils de Lyon
Investigators
- Principal Investigator: Laurent JUILLARD, Pr, Hospices Civils de Lyon
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 69HCL16_0271