Ignite Creation Date:
2025-12-25 @ 2:35 AM
Ignite Modification Date:
2026-04-09 @ 11:37 AM
Study NCT ID:
NCT00030134
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
2002-02-02
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Data Collection in Women With Fabry Disease
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': {'studyType': 'OBSERVATIONAL', 'enrollmentInfo': {'count': 60}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2002-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2003-02', 'completionDateStruct': {'date': '2003-02'}, 'lastUpdateSubmitDate': '2008-03-03', 'studyFirstSubmitDate': '2002-02-02', 'studyFirstSubmitQcDate': '2002-02-02', 'lastUpdatePostDateStruct': {'date': '2008-03-04', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2002-02-04', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['Natural History', 'Female Carrier', 'Alpha-Galactosidase', 'Lysosomal Disease', 'X-Linked', 'Fabry', 'Fabry Disease'], 'conditions': ['Fabry Disease']}, 'referencesModule': {'references': [{'pmid': '6808807', 'type': 'BACKGROUND', 'citation': "Ahlmen J, Hultberg B, Brynger H, Sjoblad S, Svalander C. Clinical and diagnostic considerations in Fabry's disease. Acta Med Scand. 1982;211(4):309-12. doi: 10.1111/j.0954-6820.1982.tb01952.x."}, {'pmid': '2996471', 'type': 'BACKGROUND', 'citation': "Aivazian AA, Trofimov IB, Seredniakova NI. [Ultrastructural changes in the skin of patients with Fabry's angiokeratoma]. Arkh Patol. 1985;47(7):60-3. Russian."}, {'pmid': '11441201', 'type': 'BACKGROUND', 'citation': 'Altarescu G, Moore DF, Pursley R, Campia U, Goldstein S, Bryant M, Panza JA, Schiffmann R. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke. 2001 Jul;32(7):1559-62. doi: 10.1161/01.str.32.7.1559.'}]}, 'descriptionModule': {'briefSummary': 'This protocol will collect information needed to design a clinical study for the symptoms and problems of women with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called a-galactosidase A, which normally breaks down fatty substances called glycolipids, does not function properly. The resulting accumulation of glycolipids in various tissues causes arm and leg pain, skin lesions, and problems with the kidneys, heart, nerves, and blood vessels. This protocol does not involve any experimental drug treatments, but participants may be offered enrollment in future studies and registries.\n\nWomen 18 years of age and older with Fabry disease who have not had enzyme replacement therapy may participate in this study. Pregnant women are eligible, but may be excluded from certain procedures, such as magnetic resonance imaging (MRI).\n\nParticipants will have the following tests and procedures over a 3-day period:\n\n* Personal and family medical history\n* Physical, neurological, and eye examinations\n* Blood and urine tests\n* Electrocardiogram (ECG) to measure electrical activity of the heart\n* Echocardiogram (ultrasound) to examine the heart muscles and pumping action\n* Magnetic resonance imaging (MRI) to examine the brain. This test uses a magnetic field and radio waves to produce images of the brain. The patient lies in a narrow cylinder (the MRI scanner) during the imaging and may talk with staff at any time during the procedure.\n* Magnetic resonance angiogram (MRA) to examine the blood vessels in the head and neck. This procedure is similar to MRI.\n* Genotyping to confirm the diagnosis of Fabry disease. DNA from a blood sample will be examined for the gene associated with Fabry disease.\n* Skin punch biopsy for microscopic examination of tissue. A piece of skin tissue about 1/8-inch thick is removed with a cookie cutter-like instrument.\n\nParticipants will also complete two questionnaires regarding pain and quality of life. They will be asked to stop taking pain medications for 7 days before completing the pain questionnaire, but may resume medications before 7 days if the pain is too intense. The questionnaire will be completed by telephone interview.\n\nPatients will also be asked to keep a diary of pain medications taken for 7 days while on the study.', 'detailedDescription': 'This is a study to collect normative data in female patients with Fabry disease. After signing informed consent, patients will complete various study evaluations. Serious adverse events will be monitored throughout the patients study participation (approximately 7 days).'}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': False, 'eligibilityCriteria': 'The patient must provide written informed consent prior to any study-related procedures being performed.\n\nPatients must be 18 years of age or older.\n\nPatients must have signs of symptoms consistent with Fabry disease with no prior treatment with any enzyme replacement therapy for Fabry Disease.\n\nPatients of childbearing potential must have a negative pregnancy test (urine beta-hCG) in order to complete all study tests.\n\nIf a patient is pregnant, they may still enter the trial but may not participate in MRI or MRA procedures.\n\nPatients who have received an investigational drug within 30 days prior to study enrollment or received prior treatment with any enzyme replacement therapy for Fabry disease will be excluded.\n\nPatients who have diabetic nephropathy or other confounding renal disorder will be excluded.\n\nPatients who have a clinically significant organic disease or an unstable condition that, in the opinion of the Investigator, would preclude participation in this protocol will be excluded.'}, 'identificationModule': {'nctId': 'NCT00030134', 'briefTitle': 'Data Collection in Women With Fabry Disease', 'organization': {'class': 'NIH', 'fullName': 'National Institutes of Health Clinical Center (CC)'}, 'officialTitle': 'A Study to Collect Normative Data in Female Patients With Fabry Disease', 'orgStudyIdInfo': {'id': '020116'}, 'secondaryIdInfos': [{'id': '02-N-0116'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'country': 'United States', 'facility': 'National Institute of Neurological Disorders and Stroke (NINDS)', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Institute of Neurological Disorders and Stroke (NINDS)', 'class': 'NIH'}}}}