Ignite Creation Date:
2025-12-25 @ 2:28 AM
Ignite Modification Date:
2026-02-21 @ 6:46 PM
Study NCT ID:
NCT02843334
Status:
UNKNOWN
Last Update Posted:
2016-07-25
First Post:
2016-07-21
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of the Prevalence of Fabry Disease in French Dialysis Patients
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000795', 'term': 'Fabry Disease'}, {'id': 'D007676', 'term': 'Kidney Failure, Chronic'}], 'ancestors': [{'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D059345', 'term': 'Cerebral Small Vessel Diseases'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D051436', 'term': 'Renal Insufficiency, Chronic'}, {'id': 'D051437', 'term': 'Renal Insufficiency'}, {'id': 'D007674', 'term': 'Kidney Diseases'}, {'id': 'D014570', 'term': 'Urologic Diseases'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D002908', 'term': 'Chronic Disease'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': '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'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 6000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2016-05'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-07', 'completionDateStruct': {'date': '2017-05', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2016-07-21', 'studyFirstSubmitDate': '2016-07-21', 'studyFirstSubmitQcDate': '2016-07-21', 'lastUpdatePostDateStruct': {'date': '2016-07-25', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2016-07-25', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-05', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Prevalence of Fabry disease', 'timeFrame': 'during a hemodialysis session (Day 1)', 'description': 'Analysis for the diagnostic of FD will be performed on blood drops:\n\n* For men : alpha galactosidase A enzyme activity (positive test if \\< 1,2µmol/L/h)\n* 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.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Fabry disease', 'End Stage Renal Disease', 'chronic dialysis', 'alpha galactosidase A', 'Lyso-GB3', 'GLA mutation', 'Prevalence'], 'conditions': ['Fabry Disease', 'End Stage Renal Disease', 'Renal Dialysis']}, 'descriptionModule': {'briefSummary': '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.\n\nWe 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.\n\nIn 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.\n\nA 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.).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '70 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '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)', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Woman or men\n* Age between 18 to 70 years\n* 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 :\n* Primitive glomerulonephritis\n* Hypertension\n* Diabetic nephropathy with non type 1 diabetes\n* Vascular nephropathy\n* Pyelonephritis\n* Unknown or other\n* Informed consent signed\n\nExclusion Criteria:\n\n* IgA nephropathy confirmed by renal biopsy\n* Diabetic nephropathy with type 1 diabetes\n* Autosomal dominant polycystic kidney disease\n* Law-protected patient\n* Patient who doesn't belong to the national social security system, or similar system\n* Pregnant or lactating woman"}, 'identificationModule': {'nctId': 'NCT02843334', 'acronym': 'FABRYDIAL', 'briefTitle': 'Study of the Prevalence of Fabry Disease in French Dialysis Patients', 'organization': {'class': 'OTHER', 'fullName': 'Hospices Civils de Lyon'}, 'officialTitle': 'Study of the Prevalence of Fabry Disease in French Dialysis Patients', 'orgStudyIdInfo': {'id': '69HCL16_0271'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Population of adult patients undergoing chronic renal dialysis', 'description': '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)', 'interventionNames': ['Biological: Dried blood spot (DBS) sampling']}], 'interventions': [{'name': 'Dried blood spot (DBS) sampling', 'type': 'BIOLOGICAL', 'description': '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.', 'armGroupLabels': ['Population of adult patients undergoing chronic renal dialysis']}]}, 'contactsLocationsModule': {'locations': [{'zip': '33000', 'city': 'Bordeaux', 'state': 'Aquitaine', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Valérie De PRECIGOUT, MD', 'role': 'CONTACT', 'email': 'valerie.deprecigout@chu-bordeaux.fr', 'phone': '(0)556 795 831', 'phoneExt': '+33'}], 'facility': 'Hôpital Pellegrin Tripode, Service de néphrologie-Dialyse, place Amélie Rabat Léon', 'geoPoint': {'lat': 44.84124, 'lon': -0.58046}}, {'zip': '30029', 'city': 'Nîmes', 'state': 'Gard', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Olivier MORANNE, Pr', 'role': 'CONTACT', 'email': 'olivier.moranne@chu-nimes.fr', 'phone': '(0)466 683 256', 'phoneExt': '+33'}], 'facility': 'Hôpital Universitaire Carémeau, Service de Néphrologie, Place du Pr R. Debré', 'geoPoint': {'lat': 43.83665, 'lon': 4.35788}}, {'zip': '80054', 'city': 'Amiens', 'state': 'Nord Picardie', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Gabriel CHOUKROUN, Pr', 'role': 'CONTACT', 'email': 'choukroun.gabriel@chu-amiens.fr', 'phone': '(0)322 455 860', 'phoneExt': '+33'}], 'facility': "CHU d'Amiens, Site Sud, Service de néphrologie, D408", 'geoPoint': {'lat': 49.9, 'lon': 2.3}}, {'zip': '69437', 'city': 'Lyon', 'state': 'Rhones Alpes', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Laurent JUILLARD, Pr', 'role': 'CONTACT', 'email': 'Laurent.juillard@univ-lyon1.fr', 'phone': '(0)472 110 159', 'phoneExt': '+33'}, {'name': 'Laure GUITTARD', 'role': 'CONTACT', 'email': 'Laure.guittard@chu-lyon.fr', 'phone': '(0)472 112 801', 'phoneExt': '+33'}], 'facility': "Hospices Civils de Lyon, Hôpital E Herriot, Service de néphrologie, 5 place d'Arsonval", 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'zip': '75015', 'city': 'Paris', 'state': 'Île-de-France Region', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Bertrand KNEBELMANN, Pr', 'role': 'CONTACT', 'email': 'bertrand.knebelmann@nck.aphp.fr', 'phone': '(0)144 495 241', 'phoneExt': '+33'}], 'facility': 'Hôpital Necker, APHP Paris, Service de néphrologie-dialyse, 149 rue de Sèvres', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'centralContacts': [{'name': 'Laurent JUILLARD, Pr', 'role': 'CONTACT', 'email': 'Laurent.juillard@univ-lyon1.fr', 'phone': '(0)472 110 159', 'phoneExt': '+33'}, {'name': 'Florence SENS, MD', 'role': 'CONTACT', 'email': 'Florence.sens@chu-lyon.fr', 'phone': '(0)472 115 769', 'phoneExt': '+33'}], 'overallOfficials': [{'name': 'Laurent JUILLARD, Pr', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Hospices Civils de Lyon'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Hospices Civils de Lyon', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}