Ignite Creation Date:
2025-12-24 @ 11:33 PM
Ignite Modification Date:
2025-12-25 @ 9:21 PM
Study NCT ID:
NCT00351156
Status:
COMPLETED
Last Update Posted:
2010-08-19
First Post:
2006-07-10
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D005776', 'term': 'Gaucher Disease'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}], 'ancestors': [{'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': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood'}, 'studyType': 'OBSERVATIONAL', 'enrollmentInfo': {'count': 50}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2006-07'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2010-08', 'dispFirstSubmitDate': '2010-08-17', 'completionDateStruct': {'date': '2007-03', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2010-08-17', 'studyFirstSubmitDate': '2006-07-10', 'dispFirstSubmitQcDate': '2010-08-17', 'studyFirstSubmitQcDate': '2006-07-10', 'dispFirstPostDateStruct': {'date': '2010-08-19', 'type': 'ESTIMATED'}, 'lastUpdatePostDateStruct': {'date': '2010-08-19', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2006-07-12', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2007-03', 'type': 'ACTUAL'}}, 'conditionsModule': {'keywords': ['Gaucher Disease', 'Gaucher Disease, Type 1', 'Gaucher Disease, Type 2', 'Gaucher Disease, Type 3', 'Neuronopathic Gaucher Disease', 'Non-Neuronopathic Gaucher Disease', 'Lysosomal Storage Disease', 'Metabolism, Inborn Errors', 'Metabolic Diseases', 'Sphingolipidoses', 'Genetic Diseases, Inborn'], 'conditions': ['Gaucher Disease']}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different between people who have Gaucher disease and people who do not have Gaucher disease. This information may be useful in the future to help find new treatments for Gaucher disease.', 'detailedDescription': 'This study is designed to evaluate the ex vivo response to pharmacological chaperone therapy by testing blood samples from previously treated and untreated patients with Gaucher disease. The study will include patients with non-neuropathic Gaucher disease (type I) and neuropathic Gaucher disease (types II and/or III).\n\nAll subjects will participate in one study visit. Clinical information will be collected retrospectively from medical records. Information collected will include Gaucher disease diagnosis and history, medical history, family history, assessments of clinical severity, and genotype. A blood sample will be collected and various cells will be isolated for laboratory testing and research.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with Gaucher disease', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Willing and able to provide written informed consent by subject or legal guardian\n2. Male or female of any age\n3. Confirmed diagnosis of Gaucher disease with known genotype\n4. Clinically stable and either treatment naïve or on a stable dose of enzyme replacement therapy and/or substrate reduction therapy for at least 6 months prior to study entry\n5. Available medical records for collection of retrospective clinical information\n\nExclusion Criteria:\n\n1. Received any investigational product within 30 days prior to study entry\n2. Other significant disease or be otherwise unsuitable for the study, as determined by the investigator'}, 'identificationModule': {'nctId': 'NCT00351156', 'briefTitle': 'Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease', 'organization': {'class': 'INDUSTRY', 'fullName': 'Amicus Therapeutics'}, 'officialTitle': 'A Multicenter Study to Evaluate and Characterize the Ex Vivo Effect of Pharmacological Chaperone Therapy in Blood Cell Lines Derived From Patients With Gaucher Disease', 'orgStudyIdInfo': {'id': 'GAU-CL-001'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Blood sample', 'type': 'PROCEDURE'}]}, 'contactsLocationsModule': {'locations': [{'zip': '94143', 'city': 'San Francisco', 'state': 'California', 'country': 'United States', 'facility': 'University of California - San Francisco', 'geoPoint': {'lat': 37.77493, 'lon': -122.41942}}, {'zip': '33065', 'city': 'Coral Springs', 'state': 'Florida', 'country': 'United States', 'facility': 'University Research Foundation for Lysosomal Storage Diseases, Inc.', 'geoPoint': {'lat': 26.27119, 'lon': -80.2706}}, {'zip': '30033', 'city': 'Decatur', 'state': 'Georgia', 'country': 'United States', 'facility': 'Emory University Lysosomal Storage Disease Center', 'geoPoint': {'lat': 33.77483, 'lon': -84.29631}}, {'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'country': 'United States', 'facility': 'National Institute of Neurological Disorders and Stroke, NIH', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}, {'zip': '10016', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'New York University School of Medicine, Neurogenetics Department', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '45229', 'city': 'Cincinnati', 'state': 'Ohio', 'country': 'United States', 'facility': "Lysosomal Disease Center, Cincinnati Children's Hospital", 'geoPoint': {'lat': 39.12711, 'lon': -84.51439}}, {'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'country': 'United States', 'facility': "Children's Hospital of Philadelphia", 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}], 'overallOfficials': [{'name': 'Karin Ludwig, M.D.', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Amicus Therapeutics, Inc.'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Amicus Therapeutics', 'class': 'INDUSTRY'}}}}