Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
- Conditions
- Cholesterol Ester Storage DiseaseAcid Cholesteryl Ester Hydrolase Deficiency, Type 2Wolman Disease
- Interventions
- Other: There are no interventions in this study.
- Registration Number
- NCT01884220
- Lead Sponsor
- Children's Hospital Medical Center, Cincinnati
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 4
-
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
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Patients with Disease There are no interventions in this study. Patients with Wolman disease (WD), Cholesteryl Ester Storage Disease (CESD), or Lysosomal acid lipase (LAL) deficiency.
- Primary Outcome Measures
Name Time Method 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 Outcome Measures
Name Time Method 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.
Trial Locations
- Locations (1)
Cincinnati Children's Hospital Medical Center
🇺🇸Cincinnati, Ohio, United States