Clinical trial NCT02843334: Study of the Prevalence of Fabry Disease in French Dialysis Patients
Official title: Study of the Prevalence of Fabry Disease in French Dialysis Patients
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Fabry Disease
End Stage Renal Disease
Renal Dialysis
Keywords: Fabry disease
End Stage Renal Disease
chronic dialysis
alpha galactosidase A
Lyso-GB3
GLA mutation
Prevalence
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2016-07-25
Enrollment: 6000
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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)

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.).


Eligibility 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

Primary outcomes:
measure: Prevalence of Fabry disease
timeFrame: during a hemodialysis session (Day 1)
Secondary outcomes:
Other outcomes:
Locations:
city: Bordeaux
country: France
facility: Hôpital Pellegrin Tripode, Service de néphrologie-Dialyse, place Amélie Rabat Léon
state: Aquitaine
city: Nîmes
country: France
facility: Hôpital Universitaire Carémeau, Service de Néphrologie, Place du Pr R. Debré
state: Gard
city: Paris
country: France
facility: Hôpital Necker, APHP Paris, Service de néphrologie-dialyse, 149 rue de Sèvres
state: Ile de France
city: Amiens
country: France
facility: CHU d'Amiens, Site Sud, Service de néphrologie, D408
state: Nord Picardie
city: Lyon
country: France
facility: Hospices Civils de Lyon, Hôpital E Herriot, Service de néphrologie, 5 place d'Arsonval
state: Rhones Alpes
Study officials:
affiliation: Hospices Civils de Lyon
name: Laurent JUILLARD, Pr
role: PRINCIPAL_INVESTIGATOR
References: