Ignite Creation Date:
2025-12-26 @ 10:34 AM
Ignite Modification Date:
2025-12-29 @ 12:17 PM
Study NCT ID:
NCT01716728
Status:
UNKNOWN
Last Update Posted:
2013-08-13
First Post:
2012-10-26
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D015223', 'term': 'Wolman Disease'}, {'id': 'D015217', 'term': 'Cholesterol Ester Storage Disease'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}], 'ancestors': [{'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid 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': 'D007232', 'term': 'Infant, Newborn, Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D015183', 'term': 'Restriction Mapping'}], 'ancestors': [{'id': 'D020161', 'term': 'Physical Chromosome Mapping'}, {'id': 'D002874', 'term': 'Chromosome Mapping'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 60}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2012-08'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2013-08', 'lastUpdateSubmitDate': '2013-08-10', 'studyFirstSubmitDate': '2012-10-26', 'studyFirstSubmitQcDate': '2012-10-26', 'lastUpdatePostDateStruct': {'date': '2013-08-13', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2012-10-30', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2014-08', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'number of patients with previously undiagnosed GD identified Time Frame: up to 2 years Description: Safety Issue?: No number of patients with previously undiagnosed LALD identified', 'timeFrame': 'up to 2 years'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Lysosomal Acid Lipase Deficiency', 'Cholesterol Ester Storage Disease', 'Wolman Disease', 'Lysosomal Storage Disorder', 'Metabolic Disease', 'Recessive Inheritance'], 'conditions': ['Lysosomal Acid Lipase Deficiency', 'Cholesterol Ester Storage Disease']}, 'descriptionModule': {'briefSummary': 'Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities. We intend to utilize the PDR to identify groups of patient who are of high clinical suspicion for undiagnosed lysosomal acid lipase deficiency. A group of potential participants will be identified through the PDR. Detailed records will be requested to further narrow to ideal participants based upon previously existing diagnoses and symptoms. Participants will be invited to partake in the study via a letter from their Partners care provider with supporting study details. Study participants will be evaluated in a one-time visit. A complete family and medical history will be collected. A physical exam will be performed, and up to 20cc of blood will be drawn. All participants will be notified of their disease status via letter and phone call from the study staff. If the study participant is diagnosed with LALD through this evaluation, proper follow-up recommendations and referrals will be provided. Our intent is to determine if existing patient data can successfully be utilized to aid in the identification of patients with rare genetic disease.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Individuals must have records available in the Partners HealthCare Patient Data Registry\n\nExclusion Criteria:\n\n* Individuals must not have a diagnosis of Lysosomal Acid Lipase Deficiency'}, 'identificationModule': {'nctId': 'NCT01716728', 'briefTitle': 'Identification of Undiagnosed Lysosomal Acid Lipase Deficiency', 'organization': {'class': 'OTHER', 'fullName': 'Massachusetts General Hospital'}, 'officialTitle': 'Identification of Undiagnosed Lysosomal Acid Lipase Deficiency', 'orgStudyIdInfo': {'id': '2012P000418'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'NO_INTERVENTION', 'label': 'Enzyme analysis', 'description': 'Patients invited for evaluation will undergo lysosomal acid lipase enzyme analysis', 'interventionNames': ['Other: enzyme analysis']}], 'interventions': [{'name': 'enzyme analysis', 'type': 'OTHER', 'armGroupLabels': ['Enzyme analysis']}]}, 'contactsLocationsModule': {'locations': [{'zip': '02114', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': 'Massachusetts General Hospital', 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}], 'overallOfficials': [{'name': 'Katherine B Sims, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Massachusetts General Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Massachusetts General Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': 'Alexion Pharmaceuticals, Inc.', 'class': 'INDUSTRY'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Neurologist', 'investigatorFullName': 'Katherine Sims, MD', 'investigatorAffiliation': 'Massachusetts General Hospital'}}}}