Ignite Creation Date:
2025-12-24 @ 10:16 PM
Ignite Modification Date:
2026-04-08 @ 6:13 AM
Study NCT ID:
NCT02120235
Status:
UNKNOWN
Last Update Posted:
2017-04-04
First Post:
2014-04-17
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Investigating Lysosomal Storage Diseases in Minority Groups
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D005776', 'term': 'Gaucher Disease'}, {'id': 'D000795', 'term': 'Fabry Disease'}, {'id': 'D006009', 'term': 'Glycogen Storage Disease Type II'}, {'id': 'D009542', 'term': 'Niemann-Pick Diseases'}], 'ancestors': [{'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'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': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'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': 'D006008', 'term': 'Glycogen Storage Disease'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D015616', 'term': 'Histiocytosis, Non-Langerhans-Cell'}, {'id': 'D015614', 'term': 'Histiocytosis'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 20000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2014-02'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-04', 'completionDateStruct': {'date': '2018-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2017-04-03', 'studyFirstSubmitDate': '2014-04-17', 'studyFirstSubmitQcDate': '2014-04-21', 'lastUpdatePostDateStruct': {'date': '2017-04-04', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2014-04-22', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2018-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of patients identified with lysosomal storage disorders', 'timeFrame': '2 years'}]}, 'conditionsModule': {'keywords': ['Lysosomal storage disorders', 'LSD', 'Gaucher disease', 'Fabry disease', 'Pompe disease', 'Niemann-Pick disease'], 'conditions': ['Lysosomal Storage Disorders', 'Gaucher Disease', 'Fabry Disease', 'Pompe Disease', 'Niemann-Pick Disease']}, 'descriptionModule': {'briefSummary': 'Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '100 Years', 'minimumAge': '1 Day', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'The study population will comprise of patients of healthcare institutions in the Washington, D.C. metro area .', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Subject is greater than or equal to 1 day of age and less than or equal to 100 years of age\n* Subject is managed by a physician in the Washington, D.C metro area\n* Subject is getting blood work as part of standard clinical care and there is at least 60 uL blood remained in a tube after all clinical tests were run\n\nExclusion Criteria:\n\n* Absolute contraindication for blood drawing\n* Subject cannot be traced back by the referring physician upon a positive screening result'}, 'identificationModule': {'nctId': 'NCT02120235', 'briefTitle': 'Investigating Lysosomal Storage Diseases in Minority Groups', 'organization': {'class': 'OTHER', 'fullName': 'O & O Alpan LLC'}, 'orgStudyIdInfo': {'id': '14-CFCT-11'}}, 'contactsLocationsModule': {'locations': [{'zip': '22030', 'city': 'Fairfax', 'state': 'Virginia', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Ozlem Goker-Alpan, M.D.', 'role': 'CONTACT', 'email': 'ogokeralpan@oandoalpan.com', 'phone': '571-308-1900'}, {'name': 'Shiwei Song, MD', 'role': 'CONTACT', 'email': 'ssong@oandoalpan.com', 'phone': '571-308-1909'}], 'facility': 'O&O Alpan, LLC', 'geoPoint': {'lat': 38.84622, 'lon': -77.30637}}], 'centralContacts': [{'name': 'Ozlem Goker-Alpan, M.D.', 'role': 'CONTACT', 'email': 'ogokeralpan@oandoalpan.com', 'phone': '571-308-1900'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'O & O Alpan LLC', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}