Study of the Prevalence of Fabry Disease in French Dialysis Patients

NCT ID: NCT02843334

Last Updated: 2016-07-25

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 6000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-05-31
• Study Completion Date: 2017-05-31

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.).

Conditions

Fabry Disease; End Stage Renal Disease; Renal Dialysis

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

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)

Dried blood spot (DBS) sampling

Intervention Type: BIOLOGICAL

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.

Interventions

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.

Intervention Type: BIOLOGICAL

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

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 70 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hospices Civils de Lyon

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Laurent JUILLARD, Pr

Role: PRINCIPAL_INVESTIGATOR

Hospices Civils de Lyon

Locations

Hôpital Pellegrin Tripode, Service de néphrologie-Dialyse, place Amélie Rabat Léon

Bordeaux, Aquitaine, France

Site Status: RECRUITING

Hôpital Universitaire Carémeau, Service de Néphrologie, Place du Pr R. Debré

Nîmes, Gard, France

Site Status: RECRUITING

CHU d'Amiens, Site Sud, Service de néphrologie, D408

Amiens, Nord Picardie, France

Site Status: RECRUITING

Hospices Civils de Lyon, Hôpital E Herriot, Service de néphrologie, 5 place d'Arsonval

Lyon, Rhones Alpes, France

Site Status: RECRUITING

Hôpital Necker, APHP Paris, Service de néphrologie-dialyse, 149 rue de Sèvres

Paris, Île-de-France Region, France

Site Status: RECRUITING

Countries

France

Central Contacts

Laurent JUILLARD, Pr

Role: CONTACT

Laurent.juillard@univ-lyon1.fr

(0)472 110 159 ext. +33

Florence SENS, MD

Role: CONTACT

Florence.sens@chu-lyon.fr

(0)472 115 769 ext. +33

Facility Contacts

Valérie De PRECIGOUT, MD

Role: primary

valerie.deprecigout@chu-bordeaux.fr

(0)556 795 831 ext. +33

Olivier MORANNE, Pr

Role: primary

olivier.moranne@chu-nimes.fr

(0)466 683 256 ext. +33

Gabriel CHOUKROUN, Pr

Role: primary

choukroun.gabriel@chu-amiens.fr

(0)322 455 860 ext. +33

Laurent JUILLARD, Pr

Role: primary

Laurent.juillard@univ-lyon1.fr

(0)472 110 159 ext. +33

Laure GUITTARD

Role: backup

Laure.guittard@chu-lyon.fr

(0)472 112 801 ext. +33

Bertrand KNEBELMANN, Pr

Role: primary

bertrand.knebelmann@nck.aphp.fr

(0)144 495 241 ext. +33

Other Identifiers

69HCL16_0271

Identifier Type: -

Identifier Source: org_study_id