Ignite Creation Date:
2025-12-24 @ 1:39 PM
Ignite Modification Date:
2026-02-08 @ 7:36 PM
Study NCT ID:
NCT02778295
Status:
WITHDRAWN
Last Update Posted:
2023-02-13
First Post:
2016-05-18
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Biomarker for Patients With Fabry Disease (BioFabry)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['Algeria', 'Brazil', 'Egypt', 'Serbia']}, 'conditionBrowseModule': {'meshes': [{'id': 'D000794', 'term': 'Angiokeratoma'}, {'id': 'D051436', 'term': 'Renal Insufficiency, Chronic'}, {'id': 'D034381', 'term': 'Hearing Loss'}, {'id': 'D000795', 'term': 'Fabry Disease'}], 'ancestors': [{'id': 'D009383', 'term': 'Neoplasms, Vascular Tissue'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'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'}, {'id': 'D006311', 'term': 'Hearing Disorders'}, {'id': 'D004427', 'term': 'Ear Diseases'}, {'id': 'D010038', 'term': 'Otorhinolaryngologic Diseases'}, {'id': 'D012678', 'term': 'Sensation Disorders'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'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': '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_WITH_DNA', 'description': 'For the development of the new biomarkers using the technique of Mass-spectrometry, a blood sample will be taken via using a dry blood spot filter card. To proof the correct Fab-ry diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Fabry disease will be done.The analyses will done at:\n\nCentogene AG Am Strande 7 18055 Rostock Germany'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 0}, 'patientRegistry': False}, 'statusModule': {'whyStopped': 'Transition into BioMetabol', 'overallStatus': 'WITHDRAWN', 'startDateStruct': {'date': '2018-08-20', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-02', 'completionDateStruct': {'date': '2021-02-28', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-02-09', 'studyFirstSubmitDate': '2016-05-18', 'studyFirstSubmitQcDate': '2016-05-18', 'lastUpdatePostDateStruct': {'date': '2023-02-13', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2016-05-19', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2021-02-28', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Sequencing of the Fabry disease related gene', 'timeFrame': '4 weeks', 'description': 'Next-Generation Sequencing (NGS) of the GLA gene will be performed. The mutation will be confirmed by Sanger sequencing.'}], 'secondaryOutcomes': [{'measure': 'The Fabry disease specific biomarker candidates finding', 'timeFrame': '24 months', 'description': 'The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Fabry Disease', 'Biomarker'], 'conditions': ['Angiokeratomas', 'Chronic Kidney Disease', 'Ocular Abnormalities', 'Hearing Loss']}, 'descriptionModule': {'briefSummary': 'Development of a new mass spectrography-based biomarker for the early and sensitive diagnosis of Fabry disease from the blood', 'detailedDescription': 'Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.\n\nAnnual incidence is reported to be 1 in 80,000 live births but this figure may underestimate disease prevalence. When late-onset variants of the disease are considered, a prevalence of approximately 1 in 3,000 has been suggested. Fabry disease is pan-ethnic.\n\nFabry disease is a disorder of glycosphingolipid metabolism caused by deficient or absent lysosomal alpha-galactosidase A activity related to mutations in the GLA gene (Xq21.3-q22) encoding the alpha-galactosidase A enzyme. Deficient activity results in accumulation of globotriaosylceramide (Gb3) within lysosomes, believed to trigger a cascade of cellular events.\n\nFabry disease is transmitted as an X-linked trait. The existence of atypical, late-onset, variants and the availability of specific therapy complicate genetic counseling.\n\nThe clinical picture covers a wide spectrum ranging from mild cases in heterozygous females, to severe cases in classically affected hemizygous males with no residual alpha-galactosidase A activity. These patients may have all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular (hearing loss and vertigo) and cerebrovascular (transient ischemic attacks, strokes) symptoms of the disease.\n\nFemale patients may have very mild to severe symptoms. Pain is a common early symptom of Fabry disease (chronic pain characterized by burning and tingling paresthesia and occasional episodic crises characterized by agonizing burning pain). Pain may resolve in adulthood.\n\nAnhidrosis or hypohidrosis may occur causing heat and exercise intolerance. Other signs include corneal changes ("cornea verticilata"), Definitive laboratory diagnosis involves demonstration of marked enzyme deficiency in hemizygous males. Enzyme analysis may occasionally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation, making molecular testing (genotyping) of females mandatory.\n\nWith age, progressive damage to vital organ systems develops, possibly leading to organ failure. End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit the life-expectancy .\n\nNew methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.\n\nTherefore it is the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '2 Months', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with Fabry disease or high-grade suspicion for Fabry disease', 'healthyVolunteers': False, 'eligibilityCriteria': 'INCLUSION CRITERIA:\n\n* Informed consent will be obtained from the patient or the parents before any study related procedures.\n* Patients of both genders older than 2 months\n* The patient has a diagnosis of Fabry disease or a high-grade suspicion for Fabry disease\n* High-grade suspicion present, if one or more inclusion criteria are valid:\n\n * Positive family anamnesis for Fabry disease\n * Pin and burning in the hands and feet\n * Angiokeratomas\n * Gastrointestinal problems\n * Heart problems\n * Kidney problems\n\nEXCLUSION CRITERIA:\n\n* No Informed consent from the patient or the parents before any study related procedures.\n* Patients of both gender younger than 2 months\n* No diagnosis of Fabry disease or no valid criteria for profound suspicion of Fabry disease'}, 'identificationModule': {'nctId': 'NCT02778295', 'acronym': 'BioFabry', 'briefTitle': 'Biomarker for Patients With Fabry Disease (BioFabry)', 'organization': {'class': 'INDUSTRY', 'fullName': 'CENTOGENE GmbH Rostock'}, 'officialTitle': 'Biomarker for Fabry Disease: BioFabry AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL', 'orgStudyIdInfo': {'id': 'BFA 06-2018'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Observation', 'description': 'Patients with Fabry disease or high-grade suspicion for Fabry disease'}]}, 'contactsLocationsModule': {'locations': [{'zip': '18055', 'city': 'Rostock', 'country': 'Germany', 'facility': 'Centogene GmbH', 'geoPoint': {'lat': 54.0887, 'lon': 12.14049}}, {'zip': '400705', 'city': 'Mumbai', 'country': 'India', 'facility': 'NIRMAN-University of Mumbai-Institute of Research in Mental and Neurological handicap', 'geoPoint': {'lat': 19.07283, 'lon': 72.88261}}, {'zip': '00800c', 'city': 'Colombo', 'country': 'Sri Lanka', 'facility': 'Lady Ridgeway Hospital for Children', 'geoPoint': {'lat': 6.93548, 'lon': 79.84868}}], 'overallOfficials': [{'name': 'Peter Bauer, Prof.', 'role': 'STUDY_CHAIR', 'affiliation': 'Centogene GmbH'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'CENTOGENE GmbH Rostock', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}