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".
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.
Study Type
OBSERVATIONAL
Enrollment
4
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
Change in Organ Measurements using Ultrasound Imaging
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.
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Organ Measurements using X-Ray Imaging
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.
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Organ Measurements using Computerized Tomography
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.
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Organ Measurements using Magnetic Resonance Imaging
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.
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Liver Function using Standardized Laboratory Liver Function Assessment
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.
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Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Pulmonary Function using Standardized Pulmonary Function Assessment
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.
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Subjects's Overall Health Status using Clinical Exam
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.
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in the Subject's Overall Health Status using Verbal Report
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.
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4