Acid Cholesteryl Ester Hydrolase Deficiency, Type 2, Cholesterol Ester Storage Disease, Wolman Disease
Conditions
Keywords
Wolman Disease, Cholesteryl Ester Storage Disease, Enzyme deficiency, Natural History, Medical Records Review
Brief summary
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.
Detailed description
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.
Interventions
Sponsors
Rare Diseases Clinical Research Network
National Center for Advancing Translational Sciences (NCATS)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Children's Hospital Medical Center, Cincinnati
Study design
Observational model
COHORT
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* male or female of any age; * a clinical diagnosis of WD or CESD as defined by: * documented LAL enzyme deficiency OR * LAL gene mutations OR * a clinical course and tissue biopsy consistent with CESD or WD; * written informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in Organ Measurements using Ultrasound Imaging | Baseline, Year 1, Year 2, Year 3, Year 4 | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in Organ Measurements using X-Ray Imaging | Baseline, Year 1, Year 2, Year 3, Year 4 | 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. |
| Change in Organ Measurements using Computerized Tomography | Baseline, Year 1, Year 2, Year 3, Year 4 | 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. |
| Change in Organ Measurements using Magnetic Resonance Imaging | Baseline, Year 1, Year 2, Year 3, Year 4 | 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. |
| Change in Liver Function using Standardized Laboratory Liver Function Assessment | Baseline, Year 1, Year 2, Year 3, Year 4 | 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. |
| Change in Pulmonary Function using Standardized Pulmonary Function Assessment | Baseline, Year 1, Year 2, Year 3, Year 4 | 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. |
| Change in Subjects's Overall Health Status using Clinical Exam | Baseline, Year 1, Year 2, Year 3, Year 4 | 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. |
| Change in the Subject's Overall Health Status using Verbal Report | Baseline, Year 1, Year 2, Year 3, Year 4 | 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. |
Countries
United States
Outcome results
None listed