Ignite Creation Date:
2025-12-25 @ 4:08 AM
Ignite Modification Date:
2026-01-12 @ 9:22 AM
Study NCT ID:
NCT01884220
Status:
COMPLETED
Last Update Posted:
2015-07-28
First Post:
2013-03-13
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
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'}], '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': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D007232', 'term': 'Infant, Newborn, Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'NONE_RETAINED', 'description': 'No biospecimens will be collected specifically for this study. However, participants are encouraged to send left over biopsy material to the study site for analysis at a later date.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 4}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2010-11'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2015-07', 'completionDateStruct': {'date': '2014-05', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2015-07-27', 'studyFirstSubmitDate': '2013-03-13', 'studyFirstSubmitQcDate': '2013-06-19', 'lastUpdatePostDateStruct': {'date': '2015-07-28', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2013-06-21', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2014-05', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Change in Organ Measurements using Ultrasound Imaging', 'timeFrame': 'Baseline, Year 1, Year 2, Year 3, Year 4', 'description': 'Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using ultrasound imaging. Measurement using ultrasound imaging will only be completed if clinically indicated during clinical-care patient visits.'}], 'secondaryOutcomes': [{'measure': 'Change in Organ Measurements using X-Ray Imaging', 'timeFrame': 'Baseline, Year 1, Year 2, Year 3, Year 4', 'description': 'Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using X-rays. Measurement using X-ray imaging will only be completed if clinically indicated during clinical-care patient visits.'}, {'measure': 'Change in Organ Measurements using Computerized Tomography', 'timeFrame': 'Baseline, Year 1, Year 2, Year 3, Year 4', 'description': 'Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using Computerized Tomography. Measurement using Computerized Tomography imaging will only be completed if clinically indicated during clinical-care patient visits.'}, {'measure': 'Change in Organ Measurements using Magnetic Resonance Imaging', 'timeFrame': 'Baseline, Year 1, Year 2, Year 3, Year 4', 'description': 'Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using Magnetic Resonance Imaging. Measurement using Magnetic Resonance Imaging will only be completed if clinically indicated during clinical-care patient visits.'}, {'measure': 'Change in Liver Function using Standardized Laboratory Liver Function Assessment', 'timeFrame': 'Baseline, Year 1, Year 2, Year 3, Year 4', 'description': 'Measurement of the effect over time of LAL deficiency on the liver will be performed using standardized laboratory liver function assessments during clinical-care visits.'}, {'measure': 'Change in Pulmonary Function using Standardized Pulmonary Function Assessment', 'timeFrame': 'Baseline, Year 1, Year 2, Year 3, Year 4', 'description': 'Measurement of the effect over time of LAL deficiency on the lungs will be performed using standardized pulmonary function assessment during clinical care visits. Measurement using standardized pulmonary function assessment will only be completed if clinically indicated during clinical-care patient visits.'}, {'measure': "Change in Subjects's Overall Health Status using Clinical Exam", 'timeFrame': 'Baseline, Year 1, Year 2, Year 3, Year 4', 'description': "Measurement of the effect over time of LAL deficiency on the subject's physical health status will be performed using clinical physical exams during clinical-care visits."}, {'measure': "Change in the Subject's Overall Health Status using Verbal Report", 'timeFrame': 'Baseline, Year 1, Year 2, Year 3, Year 4', 'description': "Measurement of the effect over time of LAL deficiency on the subject's overall health status will be performed using patient's or parents' verbal report during clinical-care visits."}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Wolman Disease', 'Cholesteryl Ester Storage Disease', 'Enzyme deficiency', 'Natural History', 'Medical Records Review'], 'conditions': ['Wolman Disease', 'Cholesterol Ester Storage Disease', 'Acid Cholesteryl Ester Hydrolase Deficiency, Type 2']}, 'descriptionModule': {'briefSummary': 'The purpose of this study are: to characterize and understand the natural history of disease progression in WD and CESD, and to provide historical controls for WD and CESD for developing clinical treatment trials. The hypothesis is that the variability and clinical progression in WD and CESD is large and represents a continuum of severities from a lethal infantile to near normal adults with only "fatty livers".', 'detailedDescription': 'This is a single institution historical cohort study of patients with Wolman (WD) or Cholesteryl Ester Storage Disease (CESD). Retrospective data will be collected and abstracted from the medical records of both living and deceased patients. Additionally prospective data from living patients will be collected and abstracted annually until the end of the study. Literature sources will be used as secondary source data and will be screened to minimize/eliminate duplicative reports.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients will be recruited initially from the PIs patient population. Other physicians may refer their patients to this study for inclusion.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* male or female of any age;\n* a clinical diagnosis of WD or CESD as defined by:\n\n * documented LAL enzyme deficiency OR\n * LAL gene mutations OR\n * a clinical course and tissue biopsy consistent with CESD or WD;\n* written informed consent'}, 'identificationModule': {'nctId': 'NCT01884220', 'briefTitle': 'Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up', 'organization': {'class': 'OTHER', 'fullName': "Children's Hospital Medical Center, Cincinnati"}, 'officialTitle': 'A Historical Chart Review and Longitudinal Follow-Up of Identified Patients With Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency', 'orgStudyIdInfo': {'id': 'LDN6706'}, 'secondaryIdInfos': [{'id': 'U54NS065768', 'link': 'https://reporter.nih.gov/quickSearch/U54NS065768', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients with Disease', 'description': 'Patients with Wolman disease (WD), Cholesteryl Ester Storage Disease (CESD), or Lysosomal acid lipase (LAL) deficiency.', 'interventionNames': ['Other: There are no interventions in this study.']}], 'interventions': [{'name': 'There are no interventions in this study.', 'type': 'OTHER', 'armGroupLabels': ['Patients with Disease']}]}, 'contactsLocationsModule': {'locations': [{'zip': '45229', 'city': 'Cincinnati', 'state': 'Ohio', 'country': 'United States', 'facility': "Cincinnati Children's Hospital Medical Center", 'geoPoint': {'lat': 39.12711, 'lon': -84.51439}}], 'overallOfficials': [{'name': 'Gregory A Grabowski, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Children's Hospital Medical Center, Cincinnati"}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Children's Hospital Medical Center, Cincinnati", 'class': 'OTHER'}, 'collaborators': [{'name': 'Rare Diseases Clinical Research Network', 'class': 'NETWORK'}, {'name': 'National Center for Advancing Translational Sciences (NCATS)', 'class': 'NIH'}, {'name': 'National Institute of Neurological Disorders and Stroke (NINDS)', 'class': 'NIH'}, {'name': 'National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)', 'class': 'NIH'}], 'responsibleParty': {'type': 'SPONSOR'}}}}