Ignite Creation Date:
2025-12-24 @ 9:14 PM
Ignite Modification Date:
2025-12-28 @ 9:34 PM
Study NCT ID:
NCT00455104
Status:
RECRUITING
Last Update Posted:
2024-02-15
First Post:
2007-03-30
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Canadian Fabry Disease Initiative (CFDI) National Registry
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000795', 'term': 'Fabry Disease'}], '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'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'Biomarker samples'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 600}, 'targetDuration': '10 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2007-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-02', 'completionDateStruct': {'date': '2029-10', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-02-14', 'studyFirstSubmitDate': '2007-03-30', 'studyFirstSubmitQcDate': '2007-03-30', 'lastUpdatePostDateStruct': {'date': '2024-02-15', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2007-04-03', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2029-10', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': '(1) To maintain an established national database for the identification and monitoring of all patients with Fabry disease in Canada.', 'timeFrame': '2019'}], 'secondaryOutcomes': [{'measure': '2) To identify the clinical outcomes of patients with Fabry disease including those on various treatments.', 'timeFrame': '2019'}, {'measure': '3) To determine if urine and Gb3 and lysoGb3 and their analogues can be biomarkers for Fabry disease and can predict clinical outcomes.', 'timeFrame': '2019'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['Fabry Disease', 'National Registry'], 'conditions': ['Fabry Disease']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://www.garrod.ca', 'label': 'Fabry Disease: recommendations for diagnosis, management, and enzyme replacement therapy in Canada Nov 2005'}]}, 'descriptionModule': {'briefSummary': 'CFDI NATIONAL REGISTRY\n\nFabry disease is a rare, inherited, genetic condition due to a deficiency of an enzyme called alpha-galactosidase A. This enzyme deficiency causes the small blood vessels to accumulate a substance called glycolipid. Without sufficient levels of the enzyme, alpha-galactosidase A, persons with Fabry Disease develop severe neuropathic pain, kidney disease, heart disease, stroke and/or premature death; often before the age of 60.\n\nFabry Disease is estimated to affect approximately one out of every 40,000 males and up to twice as many females in Canada. We do not have the exact number of persons in Canada who have this disease. A common problem in studying rare conditions is the difficulty in identifying the majority of people suffering from such a disease. Gathering their health information in order to better understand the natural disease progression and its response to treatment is difficult.\n\nEarly ERT studies involving humans had small numbers of subjects and the studies were of short duration. The results of these clinical studies did lead to approval of the therapy in many countries around the world including Canada. To date though, evidence of the usefulness of ERT and its direct impact on the natural course of Fabry disease has been limited, while its cost continues to be very high. As a result of these issues, there will need to be continued and long-term collection of information related to the effectiveness of ERT and other treatments to better document its true clinical outcomes in Canadian people with Fabry disease.\n\nThe Canadian Fabry Disease Initiative National Registry (CFDI-NR) is an observational, voluntary registry designed to collect outcomes data on Fabry disease from people living in Canada.', 'detailedDescription': 'CFDI NATIONAL REGISTRY: Canada-Wide Patient Recruitment\n\nThere are over 600 people in Canada known to have Fabry Disease. For more details about Fabry Disease, please refer to the "Brief Summary."\n\nThe goals of this nation-wide study are as follows:\n\n1. To maintain an established national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada;\n2. To determine clinical outcomes of patients with Fabry disease including those on treatment;\n3. To determine if urine and plasma Gb3 and globotriasylsphingosine (LysoGb3) and their analogues can be biomarkers for Fabry disease and can predict clinical outcomes.\n\nData will be collected at baseline and every 12 months, as follows:\n\n* Medical History\n* Physical examination\n* Neurological exam\n* Electrocardiogram (ECG) - an electrical tracing of one\'s heart rhythm\n* Echocardiogram (ultrasound of the heart)\n* Holter monitor\n* Magnetic Resonance Imaging (MRI) or CT Scan of the head\n* Lab tests (including alpha-galactosidase levels)\n* Review of current medications\n* 24-hour urine collection or a random spot urine test\n* Biomarker samples\n\nTo date though, evidence of the usefulness of ERT and its direct impact on the natural course of Fabry disease has been limited, while its cost continues to be very high (approximately $300,000 CDN per year per patient). As a result of these issues, there will need to be continued and long-term collection of information related to the effectiveness of ERT and other treatments to better document its true clinical outcomes in Canadian people with Fabry disease.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '85 Years', 'minimumAge': '5 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Individuals with Fabry disease living in Canada.', 'healthyVolunteers': False, 'eligibilityCriteria': 'INCLUSION CRITERIA:\n\n* Age 5 years and older, up to \\& including age 85 years; and\n* Able to give informed consent; and\n* A clinical diagnosis of Fabry disease; and\n* Compliance with all the clinic visits, interviews and assessments during the study period; and\n* A Canadian citizen or a landed immigrant\n\nEXCLUSION CRITERIA:\n\n* Inability to give informed consent; or\n* Problem complying with all the clinic visits, interviews and assessments during the study period; or\n* An estimated life expectancy of less than 12 months\n* Under 5 years of age\n* Non-disease causing mutation'}, 'identificationModule': {'nctId': 'NCT00455104', 'acronym': 'CFDI-NR', 'briefTitle': 'Canadian Fabry Disease Initiative (CFDI) National Registry', 'organization': {'class': 'NETWORK', 'fullName': 'Canadian Fabry Research Consortium'}, 'officialTitle': 'Canadian Fabry Disease Initiative National Registry: Outcomes of Rare Disease Therapeutics and Cardiovascular Risk Factor Modification', 'orgStudyIdInfo': {'id': 'CFDI 001 - NR'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'National Registry', 'description': 'To maintain an established national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada.', 'interventionNames': ['Other: No intervention']}], 'interventions': [{'name': 'No intervention', 'type': 'OTHER', 'description': 'This is an observational, voluntary registry.', 'armGroupLabels': ['National Registry']}]}, 'contactsLocationsModule': {'locations': [{'zip': 'T2T 5C7', 'city': 'Calgary', 'state': 'Alberta', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Aneal Khan, MD', 'role': 'CONTACT', 'email': 'aneal.khan@albertahealthservices.ca', 'phone': '403-955-7211'}, {'name': 'Colleen McNeil', 'role': 'CONTACT', 'email': 'colleen.mcneil@albertahealthservices.ca', 'phone': '403-955-7941'}, {'name': 'Aneal Khan, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Alberta Children's Hospital", 'geoPoint': {'lat': 51.05011, 'lon': -114.08529}}, {'zip': 'V5Z 1M9', 'city': 'Vancouver', 'state': 'British Columbia', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Anna Lehman, MD', 'role': 'CONTACT', 'email': 'anna.lehman@vch.ca', 'phone': '604-875-5965'}, {'name': 'Caroline Selvage, RN', 'role': 'CONTACT', 'email': 'caroline.selvage@vch.ca', 'phone': '604-875-5965'}, {'name': 'Anna Lehman, MD, FRCPC', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Vancouver General Hospital Adult Metabolic Diseases Clinic', 'geoPoint': {'lat': 49.24966, 'lon': -123.11934}}, {'zip': 'B3H 1V8', 'city': 'Halifax', 'state': 'Nova Scotia', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Michael L West, MD', 'role': 'CONTACT', 'email': 'mlwest@dal.ca', 'phone': '902-473-4023'}, {'name': 'Laurie Kay, RN', 'role': 'CONTACT', 'email': 'laurie.kay@cdha.nshealth.ca', 'phone': '902-473-2082'}, {'name': 'Michael L West, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Queen Elizabeth II Health Sciences Centre', 'geoPoint': {'lat': 44.64269, 'lon': -63.57688}}, {'zip': 'M5T 2S8', 'city': 'Toronto', 'state': 'Ontario', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Mark R. Iwanochko, MD, FRCPC', 'role': 'CONTACT', 'email': 'robertmark.iwanochko@uhn.on.ca', 'phone': '416-603-5236'}, {'name': 'Syed Wasim', 'role': 'CONTACT', 'email': 'syed.wasim@sickkids.ca', 'phone': '416-586-4800', 'phoneExt': '4231'}, {'name': 'Mark R Iwanochko, MD, FRCPC', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Toronto Western Hospital', 'geoPoint': {'lat': 43.70643, 'lon': -79.39864}}, {'city': 'Montreal', 'state': 'Quebec', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Daniel Bichet, MD', 'role': 'CONTACT', 'email': 'daniel.bichet@umontreal.ca', 'phone': '514-338-2222', 'phoneExt': '2173'}, {'name': 'Carole Fortier, RN', 'role': 'CONTACT', 'email': 'c-fortier@crhsc.rtss.qc.ca', 'phone': '514-338-2222', 'phoneExt': '3110'}, {'name': 'Daniel Bichet, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'University of Montreal, Department of Medicine', 'geoPoint': {'lat': 45.50884, 'lon': -73.58781}}], 'centralContacts': [{'name': 'Michael L. West, MD', 'role': 'CONTACT', 'email': 'mlwest@dal.ca', 'phone': '902-473-4023'}, {'name': 'Kaye Le Moine, RN', 'role': 'CONTACT', 'email': 'kaye.lemoine@cdha.nshealth.ca', 'phone': '902-473-5770'}], 'overallOfficials': [{'name': 'Michael L West, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Canadian Fabry Research Consortium', 'class': 'NETWORK'}, 'collaborators': [{'name': 'Nova Scotia Health Authority', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}