Ignite Creation Date:
2025-12-24 @ 11:16 PM
Ignite Modification Date:
2026-02-11 @ 1:03 AM
Study NCT ID:
NCT01457456
Status:
WITHDRAWN
Last Update Posted:
2023-02-13
First Post:
2011-10-21
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Biomarker for Morquio Disease (BioMorquio)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['Algeria', 'Brazil', 'Pakistan', 'Saudi Arabia', 'Serbia']}, 'conditionBrowseModule': {'meshes': [{'id': 'D009085', 'term': 'Mucopolysaccharidosis IV'}], 'ancestors': [{'id': 'D009083', 'term': 'Mucopolysaccharidoses'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D017520', 'term': 'Mucinoses'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'For the development of the new biomarkers using the technique of mass-spectometry 10 ml EDTA blood and a dry blood spot filter card are used. To prove the correct Morquio diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Morquio will be done as routine diagnostic sequencing.\n\nThe analyses will done in the Centogene AG Am Strande 7 18055 Rostock Germany'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 0}}, 'statusModule': {'whyStopped': 'Transition to BioMetabol', 'overallStatus': 'WITHDRAWN', 'startDateStruct': {'date': '2018-08-20', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-02',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': '2011-10-21', 'studyFirstSubmitQcDate': '2011-10-21', 'lastUpdatePostDateStruct': {'date': '2023-02-13', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2011-10-24', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2021-02-28', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from blood (plasma)', 'timeFrame': '24 month', 'description': 'New 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.'}], 'secondaryOutcomes': [{'measure': 'Testing for clinical robustness, specificity and long-term stability of the biomarker', 'timeFrame': '36 months', 'description': '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'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Biomarker', 'Morquio Disease'], 'conditions': ['Morquio Syndrome', 'Accumulation of Mucopolysaccharides', 'Morquio Syndrome A', 'Morquio B Disease']}, 'descriptionModule': {'briefSummary': 'Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from plasma', 'detailedDescription': 'Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, individuals with Morquio syndrome have normal intelligence. The clinical features of MPS IV-B are less severe than those associated with MPS IV-A. Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees or genu valgum), flat feet, abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis), abnormal development of the growing ends of the long bones (epiphyses) resulting in dwarfism, and/or a prominent breast bone (pectus carinatum) as well as bell shaped chest. Though the CNS and peripheral nerves are primarily not affected the bone defects may result in neurological symptoms such as spinal cord compression. Hearing loss, weakness of the legs, and/or additional abnormalities may also occur.\n\nThe mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes lead to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. There are several different types and subtypes of mucopolysaccharidosis. These disorders, with one exception, are inherited as autosomal recessive traits and all vary in their clinical phenotype. Within our clinical trial we focus on MPS type IV.\n\nNew methods, like mass-spectrometry give a good chance to characterize in the blood (plasma) of affected patents specific metabolic alterations that allow to diagnose in the future the disease earlier, with a higher sensitivity and specificity. Therefore it is the goal of the study to develop new biochemical markers from the plasma of the affected patients helping to benefit the patient by an early diagnose and thereby with an earlier treatment.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '12 Months', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with Morquio 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 older than 12 months\n* The patient has a diagnosis of Morquio disease\n\nEXCLUSION CRITERIA:\n\n* No Informed consent from the patient or the parents before any study related procedures.\n* Patients younger than 12 months\n* The patient has no diagnosis of Morquio disease'}, 'identificationModule': {'nctId': 'NCT01457456', 'acronym': 'BioMorquio', 'briefTitle': 'Biomarker for Morquio Disease (BioMorquio)', 'organization': {'class': 'INDUSTRY', 'fullName': 'CENTOGENE GmbH Rostock'}, 'officialTitle': 'Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL', 'orgStudyIdInfo': {'id': 'BM 06-2018'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Observation', 'description': 'Patients with Morquio disease'}]}, 'contactsLocationsModule': {'locations': [{'zip': '89075', 'city': 'Cairo', 'country': 'Egypt', 'facility': "Children's Hospital, Faculty of Medicine, Ain Shams University", 'geoPoint': {'lat': 30.06263, 'lon': 31.24967}}, {'zip': '18055', 'city': 'Rostock', 'country': 'Germany', 'facility': 'Centogene AG', 'geoPoint': {'lat': 54.0887, 'lon': 12.14049}}, {'zip': '682041', 'city': 'Kochi', 'state': 'Kerala', 'country': 'India', 'facility': 'Amrita Institute of Medical Sciences & Research Centre', 'geoPoint': {'lat': 9.93988, 'lon': 76.26022}}, {'zip': '400705', 'city': 'Mumbai', 'country': 'India', 'facility': 'Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)', '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'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'CENTOGENE GmbH Rostock', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}